[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"hereditary-spastic-paraplegia\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:hereditary-spastic-paraplegia":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,16,0,[8,40,61,92,137,169,211,240,260,304,327,356,379,415,437,464],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":22,"briefSummary":24,"conditions":25,"keywords":4,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":28,"lastUpdatePostDateStruct":29,"startDateStruct":32,"completionDateStruct":34,"leadSponsor":36,"locationsCount":39},"100625077","neuromodulation-to-enhance-motor-function-in-hsp-100625077",false,"NCT07417943","Neuromodulation to Enhance Motor Function in HSP","Noninvasive Spinal Cord Neuromodulation to Enhance Motor Function in Individuals With Hereditary Spastic Paraplegia","Inclusion Criteria:\n\n* Clinical diagnosis of hereditary spastic paraplegia (genetic confirmation if available).\n* Stable medications for spasticity and other neurologic symptoms for =4 weeks prior to enrollment.\n* Able to participate in study visits and assessments with or without assistive devices.\n* If ambulatory: able to walk at least 10 meters with or without an assistive device.\n* If wheelchair user: able to perform seated mobility tasks and transfers required for assessments.\n* Capacity to provide informed consent and follow study procedures, with an ability to communicate and understand instructions in English\n\nExclusion Criteria:\n\n* Implanted electronic devices (e.g., pacemaker, deep brain stimulator, intrathecal pumps).\n* Severe cardiopulmonary disease that would make participation unsafe.\n* Open skin lesions or severe dermatologic conditions at electrode sites.\n* Pregnancy or plans to become pregnant during the intervention period.\n* Diagnosed with Primary Lateral Sclerosis (PLS) or another neurological condition that affects walking, such as stroke, multiple sclerosis (MS), or a recent surgery on legs.\n* Unable to participate in basic movement or mobility assessments, even with their usual mobility device (such as a wheelchair, walker, or cane). People who use wheelchairs or other mobility aids can participate if they can complete the study's mobility assessments in their usual way.\n* Cognitive or psychiatric conditions that make it difficult to give informed consent or follow study instructions.\n* Diagnosed with Urinary Tract Infection (UTI), either acute or ongoing, before or at the time of study enrollment.\n* Diagnosed with epilepsy.\n* Participation in another interventional clinical trial that could affect mobility or spasticity during the study.\n* A recent change (within the last 4 weeks) in medications or treatments that affect spasticity or movement (for example: baclofen, tizanidine, botulinum toxin injections).\n* Expect to start or change treatments for spasticity or mobility during the study period.\n* Any condition judged by the investigator to pose excess risk or confound outcomes.","ALL","18 Years",{"count":19,"type":20},15,"ESTIMATED","INTERVENTIONAL",[23],"NA","Hereditary spastic paraplegia (HSP) is a rare neurological condition that causes stiffness, weakness, and difficulty walking due to damage in the nerves that control movement. This study will test whether a noninvasive form of spinal cord stimulation, called transcutaneous spinal cord stimulation (tSCS), can improve walking and reduce muscle stiffness in adults with HSP.\n\nIn this study, participants will receive tSCS twice a week for 8 weeks. The stimulation is delivered through self-adhesive electrodes placed on the skin over the lower back and does not require surgery. Each session will last about one hour. After the treatment period, participants will be followed for an additional 8 weeks without stimulation to see whether any improvements are maintained. Researchers will measure walking speed, walking endurance, muscle stiffness, and overall disease severity. Additional tests will explore changes in bladder and bowel function and muscle strength.",[26],"Hereditary Spastic Paraplegia","RECRUITING","2026-04-17",{"date":30,"type":31},"2026-04-22","ACTUAL",{"date":33,"type":31},"2026-04-09",{"date":35,"type":20},"2028-02-01",{"name":37,"class":38},"Rahul Sachdeva","OTHER",1,{"id":41,"slug":42,"hasResults":11,"nctId":43,"briefTitle":44,"officialTitle":44,"acronym":4,"eligibilityCriteria":45,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":46,"targetDuration":48,"studyType":49,"phases":4,"briefSummary":50,"conditions":51,"keywords":4,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":52,"lastUpdatePostDateStruct":53,"startDateStruct":55,"completionDateStruct":57,"leadSponsor":59,"locationsCount":39},"100560046","stop-hspnet-a-registry-for-hereditary-spastic-paraplegia-as-an-integration-tool-for-future-therapeutic-strategies-100560046","NCT06572046","STOP-HSP.Net: a Registry for Hereditary Spastic Paraplegia as an Integration Tool for Future Therapeutic Strategies","Inclusion Criteria:\n\n* clinical diagnosis of pure or complex HSP\u002Fspastic ataxia, even in the absence of a known genetic diagnosis\n* participants\u002Fparents\u002Flegal guardians will have to give informed consent for enrollment in the registry and privacy data management\n\nExclusion Criteria:\n\n* subjects affected by secondary forms of HSP\n* presenting comorbidities that affect the general clinical picture according to clinical judgment\n* lack of informed consent",{"count":47,"type":20},500,"15 Years","OBSERVATIONAL","Our goal is to create a solid and harmonious disease registry of patient affected by hereditary spastic paraplegia (HSP) that facilitates the collection and management of patients' data over time encouraging the research and the development of future clinical trials. In-depth clinical phenotyping will develop significant clinical outcome measures that can be used in clinical trials and will allow the phenotypic complexity of the disease to be captured with the use of validated clinical scales, biomarkers and so-called patient reported outcomes (PROs).",[26],"2026-03-23",{"date":54,"type":31},"2026-03-27",{"date":56,"type":31},"2024-01-24",{"date":58,"type":20},"2029-12-31",{"name":60,"class":38},"IRCCS Fondazione Stella Maris",{"id":62,"slug":63,"hasResults":11,"nctId":64,"briefTitle":65,"officialTitle":66,"acronym":67,"eligibilityCriteria":68,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":69,"targetDuration":71,"studyType":49,"phases":4,"briefSummary":72,"conditions":73,"keywords":4,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":82,"lastUpdatePostDateStruct":83,"startDateStruct":85,"completionDateStruct":87,"leadSponsor":89,"locationsCount":91},"100558657","spastic-paraplegia---centers-of-excellence-research-network-100558657","NCT06553976","Spastic Paraplegia - Centers of Excellence Research Network","Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN) - Natural History Study Pilot","SP-CERN","Inclusion Criteria:\n\n* Male or female patients of all ages with a clinical and molecular diagnosis of hereditary spastic paraplegia type 4 (SPG4, SPAST) or hereditary spastic paraplegia type 5A (SPG5A, CYP7B1).\n\nExclusion Criteria:\n\n* Not having such a diagnosis and\u002For not being related to such individual.",{"count":70,"type":20},100,"2 Years","The Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN) is a collaborative research consortium dedicated to advancing the understanding, diagnosis, and treatment of hereditary spastic paraplegia (HSP) and primary lateral sclerosis (PLS). Aims of the consortium are to a) perform natural history studies of HSP subtypes, b) discover and validate biomarkers and clinician- and patient-reported outcome measures, c) uncover HSP's molecular pathophysiology and develop rational therapeutic targets, and d) perform sufficiently powered clinical trials. The current pilot study is aimed at enrolling 100 individuals with hereditary spastic paraplegia type 4 (SPG4) or hereditary spastic paraplegia type 5A (SPG5A).",[26,74,75,76,77,78,79,80,81],"Primary Lateral Sclerosis","SPG4","SPG5A","Spastic Paraplegia 4","Spastic Paraplegia 5A","Early Onset Hereditary Spastic Paraplegia","Neuromuscular Diseases","Spastic Paraplegia, Hereditary","2026-03-16",{"date":84,"type":31},"2026-03-18",{"date":86,"type":31},"2024-06-04",{"date":88,"type":20},"2027-06-04",{"name":90,"class":38},"Boston Children's Hospital",11,{"id":93,"slug":94,"hasResults":11,"nctId":95,"briefTitle":96,"officialTitle":97,"acronym":4,"eligibilityCriteria":98,"healthyVolunteers":11,"sex":16,"minAge":99,"maxAge":100,"enrollmentInfo":101,"targetDuration":103,"studyType":49,"phases":4,"briefSummary":104,"conditions":105,"keywords":111,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":82,"lastUpdatePostDateStruct":131,"startDateStruct":132,"completionDateStruct":134,"leadSponsor":136,"locationsCount":39},"100466506","hereditary-spastic-paraplegia-genomic-sequencing-initiative-hspseq-100466506","NCT05354622","Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)","Investigating the Genetic Basis of Hereditary Spastic Paraplegia","Inclusion Criteria:\n\n* Clinical diagnosis of progressive spasticity","1 Month","30 Years",{"count":102,"type":20},200,"5 Years","The purpose of the HSP Sequencing Initiative is to better understand the role of genetics in hereditary spastic paraplegia (HSP) and related disorders. The HSPs are a group of more than 80 inherited neurological diseases that share the common feature of progressive spasticity. Collectively, the HSPs present the most common cause of inherited spasticity and associated disability, with a combined prevalence of 2-5 cases per 100,000 individuals worldwide.\n\nIn childhood-onset forms, initial symptoms are often non-specific and many children may not receive a diagnosis until progressive features are recognized, often leading to a significant diagnostic delay. Genetic testing in children with spastic paraplegia is not yet standard practice. In this study, the investigators hope to identify genetic factors related to HSP. By identifying different genetic factors, the investigators hope that over time we can develop better treatments for sub-categories of HSP based on cause.",[26,106,107,108,109,110],"Neurodegenerative Diseases","Pediatric Disorder","Spasticity, Muscle","Motor Neuron Disease","Movement Disorders",[26,112,113,114,75,115,116,117,118,119,120,121,122,123,124,125,126,127,128,129,130],"Neurodegenerative disease","Spasticity","SPG3a","SPG11","SPG15","SPG26","SPG47","SPG50","SPG51","SPG52","Complex hereditary spastic paraplegia","Early Onset hereditary spastic paraplegia","Movement disorder","Adaptor protein complex 4","Neurogenetic disorder","Genetic Disease","Muscle Spasticity","Neurodevelopmental disorders","Musculoskeletal Disease",{"date":84,"type":31},{"date":133,"type":31},"2022-04-25",{"date":135,"type":20},"2027-04-29",{"name":90,"class":38},{"id":138,"slug":139,"hasResults":11,"nctId":140,"briefTitle":141,"officialTitle":142,"acronym":143,"eligibilityCriteria":144,"healthyVolunteers":145,"sex":16,"minAge":4,"maxAge":100,"enrollmentInfo":146,"targetDuration":148,"studyType":49,"phases":4,"briefSummary":149,"conditions":150,"keywords":153,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":82,"lastUpdatePostDateStruct":163,"startDateStruct":164,"completionDateStruct":166,"leadSponsor":168,"locationsCount":39},"100417217","registry-and-natural-history-study-for-early-onset-hereditary-spastic-paraplegia-100417217","NCT04712812","Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia","Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP)","HSP","Inclusion Criteria:\n\n* Onset of hereditary spastic paraplegia symptoms before the age of 18 years\n* Under the age of 30 years old\n* Must have a genetically confirmed variant in HSP-related genes and a relative of an individual with a confirmed diagnosis (if applicable).\n\nExclusion Criteria:\n\n* Not having such a diagnosis and\u002For not being related to such individual",true,{"count":147,"type":20},700,"4 Years","The Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP) is focused on gathering longitudinal clinical data as well as biological samples (skin and\u002For blood and\u002For saliva) from male and female patients, under the age of 30, who exhibited early onset symptoms of HSP with (1) a clinical diagnosis of hereditary spastic paraplegia and (2) the presence of variants in HSP related genes and\u002For be a relative of a person with such a diagnosis. Currently, the treatment for this disorder is generally symptomatic and available therapies improve quality of life, but are grossly inefficient in slowing the disease progression. Access to the registry information will be limited to the study staff who are responsible for recruitment and maintenance of the registry. We hope that recruitment into the registry for studies will advance knowledge of the causes, clinical course, diagnosis, and treatment of these conditions.",[26,118,119,120,121,151,79,75,152,116,115],"AP4-related Hereditary Spastic Paraplegia","SPG3A",[154,155,156,157,158,159,160,143,161,162],"AP4-HSP","AP4","SPG","AP-4","AP-4-HSP","Spastic Paraplegia","Adapter Protein 4","Early onset","Early onset HSP",{"date":84,"type":31},{"date":165,"type":31},"2020-04-27",{"date":167,"type":20},"2030-12-31",{"name":90,"class":38},{"id":170,"slug":171,"hasResults":11,"nctId":172,"briefTitle":173,"officialTitle":174,"acronym":4,"eligibilityCriteria":175,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":176,"targetDuration":4,"studyType":21,"phases":178,"briefSummary":179,"conditions":180,"keywords":197,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":202,"lastUpdatePostDateStruct":203,"startDateStruct":205,"completionDateStruct":207,"leadSponsor":209,"locationsCount":39},"100629707","effects-of-whole-body-electrical-muscle-stimulation-exercise-on-adults-with-neuromuscular-disease-100629707","NCT07478172","Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease","Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults withNeuromuscular Disease","Inclusion Criteria:\n\n* Age 18 or older\n* Diagnosed with one or more of the following neuromuscular conditions: Amyotrophic lateral sclerosis, primary lateral sclerosis, progressive muscle atrophy, spinal muscular atrophy, postpolio syndrome, inclusion body myositis, pompedisease, fascioscapulohumeral muscular dystrophy, charcot marie tooth disease, chronic inflammatory demyelinating polyneuropathy, hereditary spastic paraplegia, myasthenia gravis, lambert-eaton myasthenic syndrome, postural orthostatic tachycardia syndrome, mitochondrial myopathy, nemaline myopathy, centronuclear myopathy, lumbar radiculopathy, non-specific low back pain.\n* Ability to stand for approximately 15 minutes continuously with or without an assistive device (i.e. the length of time to stand to take a shower, complete meal preparation, wait in line at the bank, etc.)\n* At least some anti-gravity strength in major muscle groups as assessed by manual muscle testing (i.e. 2+\u002F5 strength or better)\n* Medical clearance to participate in an exercise program\n* Ability to provide informed consent\n* Ability to conform to the requirements of the study (i.e. attendance at assessment and intervention visits, maintain current level of non-study physical activity for the duration of the study, no intention to relocate mid-study)\n\nExclusion Criteria:\n\n* Diagnosed with one of the following neuromuscular conditions: Becker's muscular dystrophy, Duchenne muscular dystrophy, limb-girdle muscular dystrophy, myotonic dystrophy type 1 or 2, Freidrich's ataxia, any other NMD with known or suspected cardiac involvement or muscle fiber structural integrity defects.\n* Concurrent participation in another interventional research study\n* Unable to tolerate 15 minutes of continuous standing with or without an assistive device\n* Presence of a pacemaker, metal implants, or other implanted medical devices that could impact participant safety during WB-EMS intervention\n* Presence of cochlear implant, cortical stimulator, deep brain stimulator, ventriculoperitoneal shunt, recent skull defect, seizure in the past 12 months while taking anti-epilepsy medication, or previous serious adverse event with TMS, which could impact participant safety during TMS testing\n* Presence of unstable acute or chronic disease (i.e. renal failure, rheumatologic disease, cardia arrhythmia, neoplasm, uncontrolled hypertension)\n* Known pregnancy at time of screening; verbal screening will occur throughout the study.\n* Presence of a terminal disease (i.e. receiving hospice services)\n* Current or previous use of any drugs known to influence muscle mass or performance within 6 months; these may include but are not limited to anabolic steroids, IGF01, growth hormone, replacement androgen therapy, anti-androgen therapy\n* Presence of an additional neurologic conditions affecting somatosensory or motor function\u002Fcontrol (i.e. Parkinson's disease, Multiple Sclerosis, h\u002Fo stroke, TBI, SCI, ataxia, apraxia, hemiplegia, etc.)\n* Musculoskeletal condition or surgery in the past year that would confound results of exercise interventions (i.e. TKA, THA, RTC repair, spinal fusion)\n* Other medical conditions, signs, or symptoms that would interfere with study conductor interpretation of results as determined by an investigator",{"count":177,"type":20},50,[23],"This single-arm pilot study evaluates the effects of whole-body electrical muscle stimulation (WB-EMS) exercise on neuromuscular and physical function in adults with neuromuscular disease (NMD). Due to motor unit impairments, NMD patients often cannot tolerate traditional exercise. WB-EMS bypasses voluntary activation limits by directly stimulating muscle contractions. Up to 50 adults with conditions like ALS, SMA, and MG will undergo 20-minute supervised WB-EMS sessions (1-2 times weekly for 4-8 weeks) using the Katalyst system. Outcomes include neural excitability (TMS), motor unit behavior (EMG, NCS), functional tests (walk, balance, strength), and patient-reported fatigue, pain, and quality of life. Strict safety monitoring and exclusion criteria are in place. This study will provide preliminary data on WB-EMS as a potential exercise modality for NMD.",[181,182,183,184,74,185,186,187,188,189,190,191,192,193,194,26,195,196],"Neuromuscular Diseases (NMD)","Amyotrophic Lateral Sclerosis","Myasthenia Gravis","Lambert-eaton Myasthenic Syndrome","Spinal Muscular Atrophy","Charcot Marie Tooth Disease (CMT)","Fascioscapulohumeral Muscular Dystrophy","Inclusion Body Myositis","Mitochondrial Myopathy","Nemaline Myopathy","Centronuclear Myopathy","Postpolio Syndrome","Pompe Disease (Late-onset)","Chronic Inflammatory Demyelinating Polyneuropathy","Postural Orthostatic Tachycardia Syndrome (POTS)","Progressive Muscular Atrophy",[198,199,200,201],"Neuromuscular Disease","Electrical Stimulation","Whole Body stimulation","Exercise intervention","2026-03-12",{"date":204,"type":31},"2026-03-17",{"date":206,"type":31},"2026-03-10",{"date":208,"type":20},"2031-01-07",{"name":210,"class":38},"University of Missouri-Columbia",{"id":212,"slug":213,"hasResults":11,"nctId":214,"briefTitle":215,"officialTitle":215,"acronym":216,"eligibilityCriteria":217,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":218,"targetDuration":4,"studyType":21,"phases":220,"briefSummary":221,"conditions":222,"keywords":4,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":231,"lastUpdatePostDateStruct":232,"startDateStruct":234,"completionDateStruct":236,"leadSponsor":238,"locationsCount":39},"100603463","gait-analysis-parameter-and-upper-limb-evaluation-in-adult-patients-with-neurological-or-metabolic-pathology-100603463","NCT07136844","Gait Analysis Parameter and Upper Limb Evaluation in Adult Patients With Neurological or Metabolic Pathology","Acti-Adult","Inclusion Criteria:\n\n* Ambulant patients (i.e. able to walk 10 meters without assistance)\n* Confirmed diagnosis by the investigator based on current gold standard in his\u002Fher disease (genetic testing, clinical criteria, etc.)\n\n  * Myotonic dystrophy type 1 (DM1) and Charcot-Marie-Tooth (CMT) patients should present sensitive of motor signs on physical examination.\n  * Myasthenic patients should be seropositive, and Myasthenia Gravis Foundation of America (MGFA) class II to IV.\n  * Patient with morbid obesity (Body Mass Index\\> or = 35 at inclusion visit).\n* Signed informed consent form by patient him\u002Fherself and patient willing and able to comply with all study procedures.\n\nExclusion Criteria:\n\n* Non-ambulant patients\n* Patients with extreme cognitive disorders that limit their understanding of the exercises to be performed\n* Patients who have undergone a surgical procedure or who have experienced recent trauma (within fewer than 6 months) affecting the upper or lower limbs\n* A concomitant chronic or acute neurological, endocrine, infectious, allergic, or inflammatory pathology within the 3-week period immediately prior to inclusion\n* Patients who are participating in an interventional clinical trial\n* Pregnant or breastfeeding women",{"count":219,"type":20},300,[23],"The ActiLiège-Adult study is a prospective, longitudinal, observational study designed to collect natural history data on adult patients with neurological or metabolic diseases affecting movement. Conducted at the Centre de Référence Liégeois des Maladies Neuromusculaires in Liège, Belgium, the study will enroll 300 ambulant patients, including individuals with neuromuscular disorders and obesity. Using the Syde® wearable device, the study aims to continuously monitor motor function in real-life settings over a period of up to two years. The primary objective is to evaluate the utility of digital mobility outcomes, such as the 95th centile of stride velocity (SV95C), as reliable and objective endpoints for future clinical trials.",[80,223,224,225,186,226,227,183,228,229,26,230],"Obesity (Disorder)","Myotonic Dystrophy 1","Myasthenic Syndrome","Glycogen Storage Disease Type II Pompe Disease","Facio-Scapulo-Humeral Dystrophy","Huntington Disease","Progressive Supranuclear Palsy (PSP)","Ataxia, Spinocerebellar","2025-08-14",{"date":233,"type":31},"2025-08-22",{"date":235,"type":31},"2024-03-29",{"date":237,"type":20},"2030-12",{"name":239,"class":38},"Centre Hospitalier Universitaire de Liege",{"id":241,"slug":242,"hasResults":11,"nctId":243,"briefTitle":244,"officialTitle":245,"acronym":4,"eligibilityCriteria":246,"healthyVolunteers":11,"sex":16,"minAge":148,"maxAge":247,"enrollmentInfo":248,"targetDuration":4,"studyType":49,"phases":4,"briefSummary":249,"conditions":250,"keywords":4,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":251,"lastUpdatePostDateStruct":252,"startDateStruct":254,"completionDateStruct":256,"leadSponsor":258,"locationsCount":39},"100572093","robot-assisted-walking-treatment-in-hereditary-spastic-paraplegia-hsp-100572093","NCT06728787","Robot-assisted Walking Treatment in Hereditary Spastic Paraplegia (HSP)","Efficacy of Robot-assisted Walking Treatment on Gait Biomechanics, Functional Outcomes, and Quality of Life in Subjects With Hereditary Spastic Paraplegia (HSP)","Inclusion Criteria:\n\n* genetic or clinical diagnosis of HSP.\n* age greater than 4 years and less than 70\n* femur length \\> 23 cm\n* ability to walk independently indoors, with or without walking aids.\n\nExclusion Criteria:\n\n* botulinum toxin injection or lower limb surgery in the previous 6 months\n* severe lower limb muscle retractions\n* severe osteoporosis\n* unhealed skin lesions in lower limbs\n* cardiovascular instability\n* acute or progressive neurological disorders\n* behavioral problemS","70 Years",{"count":177,"type":20},"Patients will undergo a combined rehabilitation treatment consisting of 15 sessions on Lokomat and 15 sessions of physical therapy over three weeks for a total of 30 sessions. Two sessions\u002Fday for 5 days a week. The same subjects will conduct clinical-functional assessments before, at the end of treatment, and after a 3-month follow-up:\n\n3D Gait Analysis with defined protocol (BTSBioenginner); Spastic Paraplegia Rating Scale (SPRS); Six-Minute Walk Test (6MWT), Ten Meters Walk Test (10MWT), Gross Motor Function Measure-88 (GMFM-88) and Berg Balance Scale (BBS); Quality of life questionnaires: Medical Outcome Survey Short Form (SF-36) and ad hoc questionnaire for subjective assessment of symptoms during walking (HSP-SNAP).\n\nThis study is part of normal clinical practice and does not involve any changes to the current rehabilitation course for patients.",[26],"2025-04-30",{"date":253,"type":31},"2025-05-04",{"date":255,"type":31},"2012-01-01",{"date":257,"type":20},"2026-12-31",{"name":259,"class":38},"IRCCS Eugenio Medea",{"id":261,"slug":262,"hasResults":11,"nctId":263,"briefTitle":264,"officialTitle":265,"acronym":4,"eligibilityCriteria":266,"healthyVolunteers":11,"sex":16,"minAge":267,"maxAge":268,"enrollmentInfo":269,"targetDuration":4,"studyType":21,"phases":271,"briefSummary":274,"conditions":275,"keywords":285,"overallStatus":293,"whyStopped":4,"lastUpdateSubmitDate":294,"lastUpdatePostDateStruct":295,"startDateStruct":297,"completionDateStruct":299,"leadSponsor":301,"locationsCount":39},"100588946","phase-1-safety-and-efficacy-of-aav9ap4b1-bfb-101-for-patients-with-ap4b1-related-hereditary-spastic-paraplegia-type-47-spg47-100588946","NCT06948019","Safety and Efficacy of AAV9\u002FAP4B1 (BFB-101) For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47)","Safety and Efficacy of AAV9\u002FAP4B1 For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47): A Phase 1\u002F2 Single-Center, Open-Label Study of Stereotactic Intra-cisterna Magna Administration","Inclusion Criteria:\n\n1. Male and females between the ages of 12 months - 5 years at the time of treatment\n2. A molecularly confirmed diagnosis of SPG47 (confirmed by a CLIA certified, CE-marked, or equivalent lab): Genomic DNA mutation analysis demonstrating bi-allelic pathogenic variants in the AP4B1 gene.\n3. Proband must have features of neurologic dysfunction by clinical history and physical examination.\n4. Stable doses of concomitant medications such as anti-spasticity medications, anti-epileptic medications, behavioral management medications, sleep medications, and special diets, supplements or nutritional support for at least 3 months prior to Screening. If recent changes (\\\u003C 3 months) in medications, the participant may be allowed per Investigator judgement.\n5. Proband must be fully vaccinated per Centers for Disease Control recommendations for childhood vaccinations.\n6. Two competent custodial parents\u002Fguardians with legal capacity (legally acceptable representatives) to execute an Institutional Review Board\u002FIndependent Ethics Committee (IRB\u002FIEC) approved consent for medical research must be able to participate in the consent process. If only one parent has sole custody to consent for medical research, then that parent must be able to actively participate in the consent process.\n7. Legally acceptable representatives must be able to attend all scheduled study visits and provide feedback regarding the participant's symptoms and performance as described in the protocol.\n8. Legally acceptable representatives agree not to post any of the participant's personal medical data or information related to the study on any website or social media site (e.g., Facebook, Instagram, Twitter, YouTube, etc.) until notified that the study is completed.\n9. Proband and the proband's family must demonstrate ability to travel to the study center. For the first 30 days post treatment probands will need to stay within a 100-mile radius from the treatment center.\n\nExclusion Criteria:\n\n1. Inability to participate in the clinical evaluation as determined by the principal investigator.\n2. Clinically significant abnormal laboratory values (hemoglobin \\\u003C 8 or \\> 20 g\u002FdL; white blood cell \\> 20,000 per cmm, platelets count \\\u003C 100,000 per cmm; international normalized ratio \\[INR\\] \\> upper limit of normal \\[ULN\\]; gamma-glutamyl transferase \\[GGT\\], alanine aminotransferase \\[ALT\\], and aspartate aminotransferase \\[AST\\] or total bilirubin \\> 1.5 × ULN, creatinine\n\n   ≥ 1.5 mg\u002FdL) prior to gene replacement therapy.\n3. Presence of a concomitant medical condition that precludes a cisterna magna or lumbar puncture or use of anesthetics for sedated procedures.\n4. Bleeding disorder or any other medical condition or circumstance in which a cisterna magna or lumbar puncture is contraindicated according to local institutional policy.\n5. Documented cardiomyopathy or significant congenital heart abnormalities.\n6. Inability to be safely sedated in the opinion of the clinical anesthesiologist.\n7. History of severe\u002Flife-threatening allergic reaction to sirolimus, tacrolimus, corticosteroids, or gadolinium.\n8. Any known history and\u002For family history of hemophagocytic lymphohistiocytosis (HLH) or multisystem inflammatory syndrome (MIS)\n9. Concomitant illness or requirement for chronic drug treatment that in the opinion of the investigator creates unnecessary risks for gene transfer.\n10. Concomitant chronic drug treatment that would cause clinically significant interactions with immunosuppressive agents used in the study.\n11. Any item which would exclude the participant from being able to undergo magnetic resonance imaging (MRI) according to local institutional policy.\n12. Any other situation that would exclude the participant from undergoing any other procedure required in this study.\n13. Visual or hearing impairment sufficient to preclude cooperation with neurodevelopmental testing.\n14. The presence of significant non-SPG47 related central nervous system (CNS) impairment or behavioral disturbances that would confound the scientific rigor or interpretation of results of the study.\n15. Recent or planned elective surgical procedures that would confound the scientific rigor or interpretation of results of the study, as determined by the Investigator\u002Fstudy team.\n16. Failure to obtain appropriate informed consent.\n17. Reason to believe that the participant or parents\u002Fguardians of the participant will not comply with the study procedures outlined in the study protocol.\n18. Receiving a live vaccine within 30 days prior to gene transfer.\n19. Receiving an investigational drug within 30 days prior to screening or plan to receive an investigational drug (other than gene therapy) during the study.\n20. Enrollment and participation in another interventional clinical trial.","12 Months","60 Months",{"count":270,"type":20},5,[272,273],"PHASE1","PHASE2","Safety and Efficacy of AAV9\u002FAP4B1 For Patients with AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47): A Phase 1\u002F2 Single-Center, Open-Label Study of Stereotactic Intra-cisterna Magna Administration.\n\nThe goal of this clinical trial is to evaluate whether a gene therapy can safely treat children with SPG47, a rare genetic condition that causes progressive spasticity and developmental delays. The main questions it aims to answer are:\n\n* Is the gene therapy safe and well tolerated?\n* Does the gene therapy improve motor function and developmental outcomes?\n\nParticipants will:\n\n* Undergo screening assessments to confirm eligibility\n* Receive a single dose of the gene therapy vector\n* Attend follow-up visits for safety monitoring and developmental assessments over the course of five years",[143,26,276,277,278,279,280,118,281,282,283,110,284],"Hereditary Spastic Paraparesis","Hereditary Spastic Paraplegia Type 50","Hereditary Spastic Paraplegia Type 47","Hereditary Spastic Paraplegia Type 51","Hereditary Spastic Paraplegia Type 52","AP4B1","Neurogenetic Disorders","Neurodevelopmental Conditions","Gene Therapy",[143,26,277,278,279,280,276,113,284,286,118,281,287,288,289,290,291,292],"AAV9","AP4M1","AP4E1","AP4S1","movement disorders","neurogenetic conditions","neurodevelopmental conditions","NOT_YET_RECRUITING","2025-04-22",{"date":296,"type":31},"2025-04-28",{"date":298,"type":20},"2025-08",{"date":300,"type":20},"2032-08",{"name":302,"class":303},"BlackfinBio Ltd","INDUSTRY",{"id":305,"slug":306,"hasResults":11,"nctId":307,"briefTitle":308,"officialTitle":309,"acronym":143,"eligibilityCriteria":310,"healthyVolunteers":11,"sex":16,"minAge":311,"maxAge":312,"enrollmentInfo":313,"targetDuration":71,"studyType":49,"phases":4,"briefSummary":314,"conditions":315,"keywords":316,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":318,"lastUpdatePostDateStruct":319,"startDateStruct":321,"completionDateStruct":323,"leadSponsor":325,"locationsCount":39},"100588036","a-prospective-cohort-study-of-surgical-treatment-for-foot-deformities-in-hsp-100588036","NCT06936163","A Prospective Cohort Study of Surgical Treatment for Foot Deformities in HSP","Surgical Outcomes of Foot Deformities in Hereditary Spastic Paraplegia: A Prospective Cohort Study","Inclusion Criteria:\n\n1. Age: 10 to 45 years old.\n2. Clinically and molecular genetically confirmed diagnosis of hereditary spastic paraparesis (HSP) with either isolated Achilles tendon contracture or equinovarus cavus deformity.\n3. Radiographic (X-ray) or computed tomography (CT) evidence confirming the presence of isolated Achilles tendon contracture or equinovarus cavus deformity.\n4. Signed informed consent form by patients\u002Flegal guardians for voluntary participation in the clinical study, with full comprehension of and commitment to study protocols .\n5. Suboptimal response to standard conservative treatments (pharmacotherapy and\u002For rehabilitative exercise programs) with progressive worsening of gait abnormalities and foot deformities .\n6. Functional impairment secondary to isolated Achilles tendon contracture or equinovarus cavus deformity, manifesting as ambulatory pain, frequent falls, and significant quality-of-life limitations.\n7. Ability to ambulate barefoot for 10 meters independently or with assistive devices.\n\nExclusion Criteria:\n\n1. Prior history of foot and ankle orthopedic surgery.\n2. Severe cognitive impairment or an inability to adhere to postoperative protocols and functional assessments.\n3. Isolated Achilles tendon contracture or equinovarus cavus deformity resulting from definitive etiologies (e.g., diabetes mellitus, infectious arthritis, or inflammatory arthropathy).\n4. Significant peripheral vascular disease or clinically significant unstable medical conditions, including malignancies, hematologic disorders, and cardiopulmonary, hepatic, or renal insufficiency.\n5. Coexisting neurodegenerative or neuromuscular disorders that are unrelated to hereditary spastic paraplegia (HSP).\n6. Poor compliance with study requirements or other contraindications to participation in clinical trials.","10 Years","45 Years",{"count":70,"type":20},"Through a prospective cohort study, we aim to dynamically evaluate the long-term benefits and risks associated with surgical interventions for hereditary spastic paraparesis (HSP) accompanied by foot deformities. Our goal is to systematically summarize clinical experiences to guide practice and ultimately optimize patient outcomes.\n\nThe core research objectives include elucidating:\n\n1. the long-term efficacy of foot deformity correction procedures;\n2. the optimal timing for surgical intervention;\n3. the establishment of objective evaluation criteria to guide therapeutic decision-making.",[26],[26,317],"foot deformities","2025-04-13",{"date":320,"type":31},"2025-04-20",{"date":322,"type":31},"2025-03-01",{"date":324,"type":20},"2027-04-30",{"name":326,"class":38},"Shanghai 6th People's Hospital",{"id":328,"slug":329,"hasResults":11,"nctId":330,"briefTitle":331,"officialTitle":332,"acronym":4,"eligibilityCriteria":333,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":334,"targetDuration":4,"studyType":49,"phases":4,"briefSummary":335,"conditions":336,"keywords":341,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":347,"lastUpdatePostDateStruct":348,"startDateStruct":350,"completionDateStruct":352,"leadSponsor":354,"locationsCount":39},"100504435","natural-history-study-of-patients-with-hpdl-mutations-100504435","NCT05848271","Natural History Study of Patients with HPDL Mutations","A Patient Registry and Natural History Study of Patients with Biallelic HPDL Mutations","Inclusion Criteria:\n\n* Any individuals diagnosed with HPDL variants\n* Clinical diagnosis can include:\n\n  * HPDL-related hereditary spastic paraplegia (HSP)\n  * HPDL-related neonatal mitochondrial encephalopathy\n  * Spastic paraplegia -83 (SPG83)\n  * Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA)\n\nExclusion Criteria:\n\n* Any known genetic abnormality (other than HPDL mutation)\n* Any condition that, in the opinion of the Site Investigator, could put the participant at undue risk and\u002For would ultimately prevent the completion of study procedures",{"count":177,"type":20},"This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations",[337,26,159,338,339,340,127],"Mitochondrial Encephalomyopathies","White Matter Disease","Neonatal Encephalopathy","Mutation",[342,343,344,345,346],"HPDL","HPDL related neonatal mitochondrial encephalopathy","HPDL related hereditary spastic paraplegia","Spastic paraplegia-83","Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities","2025-03-25",{"date":349,"type":31},"2025-03-30",{"date":351,"type":31},"2023-05-18",{"date":353,"type":20},"2027-12-31",{"name":355,"class":38},"University of California, San Diego",{"id":357,"slug":358,"hasResults":11,"nctId":359,"briefTitle":360,"officialTitle":361,"acronym":362,"eligibilityCriteria":363,"healthyVolunteers":11,"sex":16,"minAge":364,"maxAge":247,"enrollmentInfo":365,"targetDuration":366,"studyType":49,"phases":4,"briefSummary":367,"conditions":368,"keywords":369,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":371,"lastUpdatePostDateStruct":372,"startDateStruct":374,"completionDateStruct":376,"leadSponsor":378,"locationsCount":39},"100581009","a-prospective-cohort-study-of-itb-treatment-for-hsp-100581009","NCT06844734","A Prospective Cohort Study of ITB Treatment for HSP","Intrathecal Baclofen for the Management of Hereditary Spastic Paraparesis: a Prospective Cohort Study","ITB-HSP","Inclusion Criteria:\n\n* Patients meet the clinical and genetic diagnostic criteria of hereditary spastic paraplegia (HSP);\n* Age: 14 to 70 years old\n* Modified Ashworth Score for lower limbs: ≥2 joints with muscle tone ≥grade 3\n* Patients are willing to participate in clinical trials and able to understand and comply with the research program\n\nExclusion Criteria:\n\n* Patients are allergic to the baclofen\n* Other neurological diseases likely affecting the evaluation of study treatment\n* Other medical conditions such as: heart disease, tumor, blood disease, liver disease, kidney disease, etc. in the past 1 year\n* Pregnancy or lactating women or subjects who are unable to use appropriate contraception during the trial\n* Participating in another study drug trial and used the investigational drug in the past 30 days\n* Subjects have poor compliance or other factors that are not suitable for participating in the clinical trial","14 Years",{"count":177,"type":20},"3 Years","The investigators conduct a prospective cohort study to explore the treatment effectiveness of continuous infusion of intrathecal baclofen (ITB) for hereditary spastic paraplegia (HSP) in China, delve into the optimal timing for starting treatment, and investigate the response differences among different subtypes. The ultimate goal is to provide clinical evidence and guidance for the application of ITB in treating HSP in China, as well as improve the life expectancy and quality of life for HSP patients. The main questions it aims to answer are:\n\n1. Changes in gait and motor function, as well as spasticity levels, compared to pre-surgery and control group after ITB surgery.\n2. Changes in quality of life, pain, psychological and emotional status, and cognition compared to pre-surgery and control group after ITB surgery.\n3. Complications following ITB surgery.\n4. Impact of ITB surgery on the occurrence and progression of skeletal deformities.\n5. Subgroup analysis: comparing surgical outcomes between different genotypes and between simple versus complex types.\n6. Determine the optimal timing for ITB intervention.",[26],[276,370],"Intrathecal baclofen","2025-02-24",{"date":373,"type":31},"2025-02-26",{"date":375,"type":31},"2025-01-01",{"date":377,"type":20},"2028-03-01",{"name":326,"class":38},{"id":380,"slug":381,"hasResults":11,"nctId":382,"briefTitle":383,"officialTitle":384,"acronym":385,"eligibilityCriteria":386,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":387,"targetDuration":4,"studyType":21,"phases":389,"briefSummary":390,"conditions":391,"keywords":392,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":406,"lastUpdatePostDateStruct":407,"startDateStruct":409,"completionDateStruct":411,"leadSponsor":413,"locationsCount":414},"100573162","flexibility-resistance-aerobic-movement-execution-training-in-adults-with-hereditary-spastic-paraplegia-100573162","NCT06742697","Flexibility, Resistance, Aerobic, Movement Execution Training in Adults With Hereditary Spastic Paraplegia","Flexibility, Resistance, Aerobic, Movement Execution (FRAME) Training Program to Improve Gait Capacity in Adults With Hereditary Spastic Paraplegia: Protocol for a Single-cohort Feasibility Trial","FRAME","Inclusion Criteria:\n\n* Adults diagnosed with Hereditary Spastic Paraplegia.\n* Presence of any functional deficit in the lower limbs that affects walking, such as muscle weakness, hypertonia, or balance issues.\n* Ability to walk without the need for physical contact with another person, as defined by a Functional Ambulation Category score of 3 or higher.\n* Ability to understand simple instructions, comprehend the purpose of the study, willingness to participate and undergo at least 10 treatment sessions, eligible and willing to sign the informed consent.\n\nExclusion Criteria:\n\n* Botulinum toxin or surgery to treat lower limb hypertonia in the six months prior to enrollment in the study.\n* Contraindications for moderate physical activity, such as stretching exercises, muscle strength training, and aerobic capacity training.",{"count":388,"type":20},20,[23],"Hereditary Spastic Paraplegia (HSP) is a diverse group of genetic neurological conditions causing progressive weakness and spasticity in the lower limbs, severely reducing balance and gait capabilities. There is currently a lack of structured neurorehabilitation programs aimed at improving gait in adults with HSP. This protocol seeks to assess the feasibility and effectiveness of a structured training approach focusing on flexibility, muscle strength, motor control, balance, and aerobic capacity.\n\nTo this end, twenty adults diagnosed with HSP will engage in 10 to 16 sessions, each lasting 60 to 120 minutes, guided by a therapist once or twice a week, depending on individual preferences. At the end of the program, participants will receive a transfer package, including written instructions (a manual) and video tutorials, to encourage ongoing exercise at home. Assessments will occur before the intervention (T0), immediately after (T1), and three months later (T2). The primary outcomes will measure the feasibility of the program, including recruitment, retention, adherence, the absence of adverse events, and patient satisfaction. Secondary outcomes will focus on improvements in gait capabilities such as gait endurance and gait speed.",[26],[393,394,395,396,397,398,399,400,401,402,403,404,405],"feasibility","gait","endurance","speed","balance","neurorehabilitation","hereditary spastic paraplegia","motor learning","aerobic exercise","high intensity interval training","resistance training","flexibility training","gait training","2025-01-28",{"date":408,"type":31},"2025-01-30",{"date":410,"type":31},"2024-12-23",{"date":412,"type":20},"2027-04",{"name":259,"class":38},2,{"id":416,"slug":417,"hasResults":11,"nctId":418,"briefTitle":419,"officialTitle":420,"acronym":421,"eligibilityCriteria":422,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":423,"targetDuration":4,"studyType":21,"phases":425,"briefSummary":427,"conditions":428,"keywords":4,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":429,"lastUpdatePostDateStruct":430,"startDateStruct":432,"completionDateStruct":434,"leadSponsor":436,"locationsCount":39},"100552834","early-phase-1-calcium-folinate-treatment-of-spastic-paraplegia-56-100552834","NCT06478238","Calcium Folinate Treatment of Spastic Paraplegia 56","A Prospective Single Arm Clinical Trial of Calcium Folinate in the Treatment of Spastic Paraplegia 56","CFT-SPG56","Inclusion Criteria:\n\n1. Patients meet the clinical diagnostic standard of hereditary spastic paraplegia (HSP);\n2. Spastic paraplegia type 56 (SPG56) was diagnosed by CYP2U1 pathogenic mutation;\n3. Patients are willing to participate in clinical trials and able to understand and comply with the research program.\n\nExclusion Criteria:\n\n1. Patients are allergic to the drugs involved in the study;\n2. Other neurological diseases likely affecting the evaluation of study treatment;\n3. Other medical conditions such as: heart disease, tumor, blood disease, liver disease, kidney disease, etc. in the past 1 year;\n4. Pregnancy or lactating women or subjects who are unable to use appropriate contraception during the trial;\n5. Participating in another study drug trial and used the investigational drug in the past 30 days;\n6. Subjects have poor compliance or other factors that are not suitable for participating in the clinical trial.",{"count":424,"type":20},10,[426],"EARLY_PHASE1","SPG56 is one of the complicated and early-onset HSP subtypes caused by genetic mutations in CYP2U1. So far, there is no standardized and specific clinical therapy for SPG56. The goal of this clinical trial is to explore the efficacy and safety of calcium folinate in the treatment of SPG56 patients.\n\nThis study is prospective, open-label and single arm and this trial will last for 6 years. A total of 10 patients will participate and they will receive calcium folinate treatment and professional clinical evaluation regularly.",[26],"2024-06-21",{"date":431,"type":31},"2024-06-27",{"date":433,"type":20},"2024-07-01",{"date":435,"type":20},"2030-05-31",{"name":326,"class":38},{"id":438,"slug":439,"hasResults":11,"nctId":440,"briefTitle":441,"officialTitle":442,"acronym":4,"eligibilityCriteria":443,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":247,"enrollmentInfo":444,"targetDuration":4,"studyType":21,"phases":445,"briefSummary":446,"conditions":447,"keywords":449,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":455,"lastUpdatePostDateStruct":456,"startDateStruct":458,"completionDateStruct":460,"leadSponsor":462,"locationsCount":39},"100301599","the-prespg4-study---studying-the-prodromal-and-early-phase-of-spg4-100301599","NCT03206190","The preSPG4 Study - Studying the Prodromal and Early Phase of SPG4","Studying the Prodromal and Early Phase of Hereditary Spastic Paraplegia Type 4 (SPG4)","Inclusion Criteria:\n\n* First degree relatives (parents, offspring, and sibs) of SPG4 patients or symptomatic individuals with known SPAST mutation\n* Age 18 to 70 years\n* Written, informed consent (patient)\n\nExclusion Criteria:\n\n* No known SPAST-mutation within the family\n* Manifest spastic gait (subclinical signs like increased deep tendon reflexes, positive Babinski sign are allowed)\n* Participation in interventional trials",{"count":102,"type":20},[23],"Study goals\n\n1. Prospective longitudinal data on progression in the natural course of SPG4 in presymptomatic mutation carriers prior to clinical disease onset and in early stages of disease\n2. Biomarkers providing objective measures of disease activity",[26,448],"Hereditary, Spastic Paraplegia, Autosomal Dominant",[75,450,451,452,453,454],"presymptomatic","at risk","mutation carriers","biomarkers","longitudinal progression","2022-08-18",{"date":457,"type":31},"2022-08-23",{"date":459,"type":31},"2018-07-01",{"date":461,"type":20},"2031-12",{"name":463,"class":38},"University Hospital Tuebingen",{"id":465,"slug":466,"hasResults":11,"nctId":467,"briefTitle":468,"officialTitle":468,"acronym":469,"eligibilityCriteria":470,"healthyVolunteers":145,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":471,"targetDuration":473,"studyType":49,"phases":4,"briefSummary":474,"conditions":475,"keywords":476,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":480,"lastUpdatePostDateStruct":481,"startDateStruct":483,"completionDateStruct":485,"leadSponsor":487,"locationsCount":489},"100361063","phenotypes-biomarkers-and-pathophysiology-in-hereditary-spastic-paraplegias-and-related-disorders-100361063","NCT03981276","Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders","HSP-PBP","Inclusion criteria:\n\n* One of the following:\n\n  1. Primary participant: Clinical or genetic diagnosis of HSP or a related disorder\n  2. Secondary participant: Unaffected family member (1st or 2nd degree relative) of primary participant (with the above-mentioned restrictions for special populations) able to give informed consent\n  3. Unrelated healthy control able to give informed consent\n\n     AND\n* Written informed consent\n\nAND\n\n\\- Participants are willing and able to comply with study procedures\n\nExclusion criteria:\n\n* Missing informed consent of primary or secondary participant\u002F healthy control\u002F legal representatives\n* For controls: evidence of a neurodegenerative disease or movement disorders; inability to give informed consent",{"count":472,"type":20},2000,"20 Years","The aim of this study is to determine the clinical spectrum and natural progression of Hereditary Spastic Paraplegias (HSP) and related disorders in a prospective multicenter natural history study, identify digital, imaging and molecular biomarkers that can assist in diagnosis and therapy development and study the genetic etiology and molecular mechanisms of these diseases.",[26],[26,477,478,479],"Biomarker","Genetic etiology","Molecular mechanisms","2021-05-18",{"date":482,"type":31},"2021-05-19",{"date":484,"type":31},"2019-10-14",{"date":486,"type":20},"2041-08",{"name":488,"class":38},"Dr. Rebecca Schule",13]