[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"batten-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:batten-disease":31},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,8,0,[8,96,129,159,218,248,283,336],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":17,"sex":18,"minAge":4,"maxAge":4,"enrollmentInfo":19,"targetDuration":22,"studyType":23,"phases":4,"briefSummary":24,"conditions":25,"keywords":54,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":84,"lastUpdatePostDateStruct":85,"startDateStruct":88,"completionDateStruct":90,"leadSponsor":92,"locationsCount":95},"100242565","inherited-retinal-degenerative-disease-registry-100242565",false,"NCT02435940","Inherited Retinal Degenerative Disease Registry","Foundation Fighting Blindness My Retina Tracker Registry","MRTR","Inclusion Criteria:\n\n* Diagnosed with an inherited retinal degenerative disease OR\n\nExclusion Criteria:\n\n* Glaucoma only\n* Diabetic retinopathy only\n* Non-retinal disease\n* Not heritable retinal disease",true,"ALL",{"count":20,"type":21},20000,"ESTIMATED","20 Years","OBSERVATIONAL","The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals who register are guided to create a profile that captures their perspective on their retinal disease and its progress; family history; genetic testing results; preventive measures; general health and interest in participation in research studies. The participants may also choose to ask their clinician to add clinical measurements and results at each clinical visit. Participants are urged to update the information regularly to create longitudinal records of their disease, from their own perspective, and their clinical progress. The overall goals of the Registry are: to better understand the diversity within the inherited retinal degenerative diseases; to understand the prevalence of the different diseases and gene variants; to assist in the establishment of genotype-phenotype relationships; to help understand the natural history of the diseases; to help accelerate research and development of clinical trials for treatments; and to provide a tool to investigators that can assist with recruitment for research studies and clinical trials.",[26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52,53],"Eye Diseases Hereditary","Retinal Disease","Achromatopsia","Bardet-Biedl Syndrome","Bassen-Kornzweig Syndrome","Batten Disease","Best Disease","Choroidal Dystrophy","Choroideremia","Cone Dystrophy","Cone-Rod Dystrophy","Congenital Stationary Night Blindness","Enhanced S-Cone Syndrome","Fundus Albipunctatus","Goldmann-Favre Syndrome","Gyrate Atrophy","Juvenile Macular Degeneration","Kearns-Sayre Syndrome","Leber Congenital Amaurosis","Refsum Syndrome","Retinitis Pigmentosa","Retinitis Punctata Albescens","Retinoschisis","Rod-Cone Dystrophy","Rod Dystrophy","Rod Monochromacy","Stargardt Disease","Usher Syndrome",[55,56,57,58,59,60,61,62,63,64,65,66,67,68,69,70,71,72,73,74,75,76,77,78,79,80,81,82],"inherited retinal degenerative disease","retinitis pigmentosa","Usher","Leber","Bardet-Biedl","Batten","Best","cone dystrophy","cone-rod dystrophy","choroideremia","congenital night blindness","enhanced s-cone","cone monochromacy","Goldmann-Favre","Kearns-Sayre","Refsum","retinoschisis","rod-cone dystrophy","rod dystrophy","rod monochromacy","Sorsby pseudoinflammatory dystrophy","stargardt","achromatopsia","juvenile inherited macular degeneration","cone dichromacy","cone trichromacy","Charcot-Marie-Tooth","albipunctate dystrophy","RECRUITING","2026-05-18",{"date":86,"type":87},"2026-05-19","ACTUAL",{"date":89,"type":4},"2014-06",{"date":91,"type":21},"2037-06",{"name":93,"class":94},"Foundation Fighting Blindness","OTHER",1,{"id":97,"slug":98,"hasResults":11,"nctId":99,"briefTitle":100,"officialTitle":101,"acronym":4,"eligibilityCriteria":102,"healthyVolunteers":11,"sex":18,"minAge":103,"maxAge":4,"enrollmentInfo":104,"targetDuration":4,"studyType":106,"phases":107,"briefSummary":110,"conditions":111,"keywords":116,"overallStatus":119,"whyStopped":4,"lastUpdateSubmitDate":120,"lastUpdatePostDateStruct":121,"startDateStruct":123,"completionDateStruct":125,"leadSponsor":127,"locationsCount":95},"100640347","phase-1-gene-therapy-trial-for-cln6-batten-disease-100640347","NCT07582484","Gene Therapy Trial for CLN6 Batten Disease","Phase 1\u002F2b Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscinosis (CLN6 Batten Disease), Delivering the CLN6 Gene by Self-Complementary AAV9","Inclusion Criteria:\n\n* Diagnosis of CLN6\n* At least 4 months old\n\nExclusion Criteria:\n\n* Presence of another inherited neurologic disease\n* Prior stem cell transplantation\n* Prior gene transfer, gene editing, or viral vector therapy","4 Months",{"count":105,"type":21},12,"INTERVENTIONAL",[108,109],"PHASE1","PHASE2","The goal of this clinical trial is to learn if a gene therapy called scAAV9.CB.CLN6 can treat children with CLN6 Batten disease (variant late infantile neuronal ceroid lipofuscinosis). The main questions it aims to answer are if he gene therapy safe and well tolerated, and if the gene therapy help slow disease progression or improve symptoms.\n\nParticipants will:\n\nReceive a single dose of the gene therapy through an injection into the fluid around the spinal cord (intrathecal administration) Have regular study visits over 2 years for safety checks and assessments of disease progression Be followed for an additional 3 years in a long-term follow-up study",[112,31,113,114,115],"CLN6","Batten's Disease","Neuronal Ceroid Lipofuscinosis CLN6","Neuronal Ceroid Lipofuscinosis",[112,117,60,118,115],"CLN6 Batten","Batten's","NOT_YET_RECRUITING","2026-05-12",{"date":122,"type":87},"2026-05-14",{"date":124,"type":21},"2026-08",{"date":126,"type":21},"2028-08",{"name":128,"class":94},"The Charlotte and Gwenyth Gray Foundation",{"id":130,"slug":131,"hasResults":11,"nctId":132,"briefTitle":133,"officialTitle":134,"acronym":4,"eligibilityCriteria":135,"healthyVolunteers":11,"sex":18,"minAge":136,"maxAge":137,"enrollmentInfo":138,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":140,"conditions":141,"keywords":143,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":149,"lastUpdatePostDateStruct":150,"startDateStruct":152,"completionDateStruct":154,"leadSponsor":156,"locationsCount":95},"100309358","investigations-of-juvenile-neuronal-ceroid-lipofuscinosis-100309358","NCT03307304","Investigations of Juvenile Neuronal Ceroid Lipofuscinosis","Investigations of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) and CLN3-Related Conditions","* INCLUSION CRITERIA:\n\nFor the Main and Sub-Studies, participants \\> 1 week of age, of all genders, demographics, geographic locations, and disease severity will be recruited in order to obtain cross-sectional representation of CLN3-related conditions (Main and Sub-Studies) or all NCLs (Sub-Study B). Participants in the Main study will be followed at approximately yearly intervals to obtain longitudinal data. Participants in Sub-Study A may elect to send in medical records and samples only, or to come to the NIH for evaluations as outlined in Section 4. We anticipate that\n\nparticipants in Sub-Study B will be seen mostly at NCL\u002FCLN3-related family conferences.\n\nMain Study:\n\nIndividuals \\> 1 week of age with a diagnosis of CLN3 or a CLN3-related\u002Fother NCL-type condition. Diagnosis determined by one of the following:\n\n1. Two CLN3 or NCL condition-appropriate genetic mutations\n2. One CLN3 mutation AND\n\ni) clinical presentation suggestive of CLN3, OR\n\nii) characteristic electron microscopy (EM) findings (such as curvilinear body, fingerprint profile, granular osmiophilic deposits).\n\nSub-Study A:\n\nIndividuals \\> 1 week of age with a diagnosis of CLN3 or CLN3-related\u002Fother NCL-type condition. Diagnosis determined by one of the following:\n\n1. Two CLN3 or condition-appropriate genetic mutations\n2. One CLN3 mutation AND\n\ni) clinical presentation suggestive of CLN3, OR\n\nii) characteristic electron microscopy (EM) findings (such as curvilinear body, fingerprint profile, granular osmiophilic deposits).\n\nOR\n\nIndividuals \\> 1 month of age who have family member(s) diagnosed with CLN3 or CLN3-related\u002Fother NCL-type condition.\n\nSub-Study B:\n\nIndividuals \\> 1 week of age with a clinical diagnosis of CLN3 or NCL.\n\nOR\n\nIndividuals \\> 1 month of age who have family member(s) diagnosed with CLN3 or NCL.\n\nEXCLUSION CRITERIA:\n\nMain Study:\n\n1. Individuals who cannot travel to the NIH because of their medical condition.\n2. Individuals who, in the opinion of the Investigator, are unable to comply with the protocol or have medical conditions that would potentially increase the risk of participation.\n3. Females who are pregnant.\n\nSub-Studies A and B:\n\n1. Unaffected individuals \\> 18 years of age who have cognitive impairments.\n2. Individuals who, in the opinion of the Investigator, are unable to comply with the protocol or have medical conditions that would potentially increase the risk of participation.","1 Week","100 Years",{"count":139,"type":21},300,"Background:\n\nCLN3, or Batten disease, is a genetic disorder. This deadly disease leads to decline of brain and nervous system functions. Symptoms of CLN3 typically occur between 4 and 7 years of age. They include changes in how a person sees, thinks, and moves. CLN3 can also cause seizures. No effective treatments for the disease are yet known. There is limited testing of potential therapies. Researchers want to study CLN3 more so they can improve future therapies.\n\nObjective:\n\nTo identify clinical or biochemical markers that can be used as therapeutic outcome measures for CLN3.\n\nEligibility:\n\nPeople with CLN3. It must be based on\n\nTwo CLN3 mutations OR\n\nOne CLN3 mutation AND findings seen with a powerful microscope\n\nFamily members of a person with CLN3.\n\nDesign:\n\nParticipants will have already been referred to NIH for CLN3 evaluation.\n\nIf participants agree to do the study, they will:\n\n1. give spinal fluid, blood, urine, and skin samples. They may provide other samples if they were already collected. These may include cells, surgical specimens, and DNA.\n2. will be seen by multiple healthcare specialists.\n\nParticipants may provide medical records or photos. Participants will sign a release of medical records form.P\n\nResearchers may send samples or clinical data to other investigators. For research testing, the samples will not include the participant s name. For a test in a clinical lab, researchers will include the participant s name. These results will become part of the clinical record at NIH.",[142,31],"Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)",[31,144,145,146,147,148],"Neurodegenerative","Lysosomal Storage","Biomarkers","Longitudinal Study","Natural History","2026-02-21",{"date":151,"type":87},"2026-02-24",{"date":153,"type":87},"2017-11-27",{"date":155,"type":21},"2050-12-31",{"name":157,"class":158},"Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)","NIH",{"id":160,"slug":161,"hasResults":11,"nctId":162,"briefTitle":163,"officialTitle":163,"acronym":4,"eligibilityCriteria":164,"healthyVolunteers":11,"sex":18,"minAge":4,"maxAge":4,"enrollmentInfo":165,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":167,"conditions":168,"keywords":195,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":209,"lastUpdatePostDateStruct":210,"startDateStruct":212,"completionDateStruct":214,"leadSponsor":216,"locationsCount":95},"100311346","longitudinal-study-of-neurodegenerative-disorders-100311346","NCT03333200","Longitudinal Study of Neurodegenerative Disorders","Inclusion Criteria:\n\n* Any patient with a genetic neurodegenerative disorder\n\nExclusion Criteria:\n\n* none",{"count":166,"type":21},1500,"The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.",[169,170,171,172,173,174,175,176,177,178,179,180,181,182,183,184,185,186,187,188,189,31,190,191,192,193,194],"MLD","Krabbe Disease","ALD","MPS I","MPS II","MPS III","Vanishing White Matter Disease","GM3 Gangliosidosis","PKAN","Tay-Sachs Disease","NP Deficiency","Osteopetrosis","Alpha-Mannosidosis","Sandhoff Disease","Niemann-Pick Diseases","MPS IV","Gaucher Disease","GAN","GM1 Gangliosidoses","Morquio Disease","S-Adenosylhomocysteine Hydrolase Deficiency","Pelizaeus-Merzbacher Disease","Leukodystrophy","Lysosomal Storage Diseases","Purine Nucleoside Phosphorylase Deficiency","Multiple Sulfatase Deficiency Disease",[196,197,144,198,199,200,201,202,203,204,205,206,207,208],"Pediatric","Rare","Genetic","Neurodevelopment","Brain","MRI","Biorepository","NDRD","Longitudinal","Cognitive","Motor","Language","Adaptive behavior","2026-02-04",{"date":211,"type":87},"2026-02-09",{"date":213,"type":87},"2012-01-11",{"date":215,"type":21},"2035-01",{"name":217,"class":94},"University of Pittsburgh",{"id":219,"slug":220,"hasResults":11,"nctId":221,"briefTitle":222,"officialTitle":222,"acronym":4,"eligibilityCriteria":223,"healthyVolunteers":11,"sex":18,"minAge":4,"maxAge":4,"enrollmentInfo":224,"targetDuration":226,"studyType":23,"phases":4,"briefSummary":227,"conditions":228,"keywords":236,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":239,"lastUpdatePostDateStruct":240,"startDateStruct":242,"completionDateStruct":244,"leadSponsor":246,"locationsCount":95},"100199549","clinical-and-neuropsychological-investigations-in-batten-disease-100199549","NCT01873924","Clinical and Neuropsychological Investigations in Batten Disease","Inclusion Criteria:\n\n* child or adult with any form of Batten disease\n* parent or legal guardian of a child or adult with any form of Batten disease\n\nExclusion Criteria:\n\n\\- parent or guardian unable or unwilling to provide permission for the affected individual",{"count":225,"type":21},500,"10 Years","This study aims to assess the natural history of Batten disease (Neuronal Ceroid Lipofuscinosis) by obtaining information about the motor, behavioral, and functional capabilities of individuals with Batten disease. This study will also refine and validate the Unified Batten Disease Rating Scale (UBDRS) as a clinical rating instrument for Batten disease.",[115,229,230,231,232,114,233,234,235,31],"Neuronal Ceroid Lipofuscinosis CLN1","Neuronal Ceroid Lipofuscinosis CLN2","Neuronal Ceroid Lipofuscinosis CLN3","Neuronal Ceroid Lipofuscinosis CLN5","Neuronal Ceroid Lipofuscinosis CLN7","Neuronal Ceroid Lipofuscinosis CLN8","Neuronal Ceroid Lipofuscinosis CLN10",[237,238,115],"Batten disease","NCL","2025-09-05",{"date":241,"type":87},"2025-09-12",{"date":243,"type":4},"2004-08",{"date":245,"type":21},"2035-08",{"name":247,"class":94},"University of Rochester",{"id":249,"slug":250,"hasResults":11,"nctId":251,"briefTitle":252,"officialTitle":253,"acronym":254,"eligibilityCriteria":255,"healthyVolunteers":11,"sex":18,"minAge":136,"maxAge":256,"enrollmentInfo":257,"targetDuration":4,"studyType":106,"phases":259,"briefSummary":260,"conditions":261,"keywords":269,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":274,"lastUpdatePostDateStruct":275,"startDateStruct":277,"completionDateStruct":279,"leadSponsor":281,"locationsCount":95},"100228697","phase-1-ucb-transplant-of-inherited-metabolic-diseases-with-administration-of-intrathecal-ucb-derived-oligodendrocyte-like-cells-100228697","NCT02254863","UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells","Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells","DUOC-01","Inclusion Criteria:\n\n1. Patients must be age ≥1 week to ≤21 years.\n2. Patients must have one of the following inherited metabolic diseases detected by enzyme or mutation analysis, and confirmed by repeat testing on a separately obtained sample:\n\n   Adrenoleukodystrophy (ALD) Batten Disease Hunter Syndrome (MPS II) Krabbe disease (Globoid Leukodystrophy) Metachromatic Leukodystrophy (MLD) Niemann Pick disease type A or B Pelizaeus-Merzbacher disease (PMD) Sandhoff disease Tay Sachs disease. Alpha Mannosidosis Sanfilippo (MPS III)\n3. Patients must have neurologic evidence of their disease, either clinically or via neuroimaging or neurophysiological testing. Examples of evidence of neurologic involvement include, but are not limited to the following:\n\n   * Abnormal EEG, Brainstem Auditory Evoked Response (BAER), and\u002For Visual Evoked Potentials (VEP).\n   * Abnormal brain MRI, ie. increased Loes score (measure of white matter damage, demyelination, and brain atrophy) and\u002For abnormal corticospinal tracts as assessed by MRI with diffusion tensor imaging (DTI).\n   * Three or more of the early clinical markers: problems sleeping, increased activity, behavior difficulties, seizure-like activity, chewing behavior, inappropriate bladder training, inappropriate bowel training.\n4. Patients must have adequate organ function as measured by:\n\n   * Renal: Serum creatinine ≤ 2.0 mg\u002Fdl\n   * Hepatic: Hepatic transaminases (ALT\u002FAST) ≤ 5 x normal, bilirubin ≤ 2.0 mg\u002Fdl (except in patients with Gilbert's disease or newborns with physiological or breast milk associated jaundice).\n   * Cardiac: Normal cardiac function by echocardiogram or radionuclide scan (shortening fraction or ejection fraction\n\n     * 80% of normal value for age). Patients with acquired or congenital cardiomyopathy may receive melphalan as a substitute for cyclophosphamide.\n   * Pulmonary: Pulmonary function tests demonstrating FVC, FEV1, and DLCO ≥ 60% of predicted in patients who can complete the testing. If patient cannot perform PFT's, an O2 sat must be \\>90% on room air.\n5. Patients must have an available, suitably matched, banked UCB unit for transplant.\n6. Patients must have a performance status as follows: Lansky ≥ 40%, or Karnofsky ≥ 40%\n7. Patients must have a life expectancy of ≥ 6 months.\n\nExclusion Criteria:\n\n1. Prior organ, tissue, or stem cell transplant within 3 years of study entry.\n2. Prior participation in any gene or regenerative cell therapy study.\n3. Inability to have an MRI scan or lumbar puncture.\n4. Intractable seizures.\n5. Chronic aspiration.\n6. Bleeding disorder.\n7. Evidence of HIV infection or HIV positive serology.\n8. Uncontrolled bacterial, viral, or fungal infection at the time of pre-UCBT cytoreduction.\n9. Inability to obtain patient's, parent's or legal guardian's consent.\n10. Requirement of ventilatory support.\n11. Pregnant or breastfeeding.\n12. Active concurrent malignancy, or receiving concurrent radiotherapy, immunosuppressive medications, or cytotoxic chemotherapy","22 Years",{"count":258,"type":21},40,[108],"The primary objective of the study is to determine the safety and feasibility of intrathecal administration of DUOC-01 as an adjunctive therapy in patients with inborn errors of metabolism who have evidence of early demyelinating disease in the central nervous system (CNS) who are undergoing standard treatment with unrelated umbilical cord blood transplantation (UCBT). The secondary objective of the study is to describe the efficacy of UCBT with intrathecal administration of DUOC-01 in these patients.",[262,31,263,264,265,266,190,182,178,267,181,268],"Adrenoleukodystrophy","Mucopolysaccharidosis II","Leukodystrophy, Globoid Cell","Leukodystrophy, Metachromatic","Neimann Pick Disease","Brain Diseases, Metabolic, Inborn","Sanfilippo Mucopolysaccharidoses",[262,31,270,271,272,171,169,273],"Hunter Syndrome","Krabbe","Metachromatic Leukodystrophy","PMD","2025-09-02",{"date":276,"type":87},"2025-09-08",{"date":278,"type":4},"2014-09",{"date":280,"type":21},"2026-10",{"name":282,"class":94},"Joanne Kurtzberg, MD",{"id":284,"slug":285,"hasResults":11,"nctId":286,"briefTitle":287,"officialTitle":287,"acronym":4,"eligibilityCriteria":288,"healthyVolunteers":11,"sex":18,"minAge":289,"maxAge":4,"enrollmentInfo":290,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":292,"conditions":293,"keywords":322,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":327,"lastUpdatePostDateStruct":328,"startDateStruct":330,"completionDateStruct":332,"leadSponsor":334,"locationsCount":95},"100531692","nyscf-scientific-discovery-biobank-100531692","NCT06203106","NYSCF Scientific Discovery Biobank","Inclusion Criteria:\n\n* Age 30 days or older.\n* Diagnosis and\u002For medical history of a condition, disease, genetic background, or trait of interest or healthy control.\n* Adults with decisional capacity must provide written informed consent unless physical limitations preclude signing.\n* Adults without decisional capacity to consent must a have diagnosis of Amyotrophic Lateral Sclerosis (ALS), Alzheimer's Disease and Related Dementias (AD\u002FADRD); Batten Disease, Corticobasal Degeneration (CBD), Dementia, Frontotemporal Dementia (FTD), Huntington Disease, Lewy Body Disease, Multiple Sclerosis, Multiple System Atrophy, Parkinson's Disease (PD), Parkinsonism, and\u002For Progressive Supranuclear Palsy, and must provide assent; a legally authorized representative (LAR) must also provide written informed consent.\n* Minors undergoing skin collection for research purposes must have a condition, disease, genetic background, or trait of interest and parental\u002Fguardian consent.\n* Minors undergoing blood, and\u002For saliva collection for research purposes may have a condition, disease, genetic background, or trait of interest or serve as a healthy control and must have an available parent\u002Fguardian to provide consent.\n* Minors transferring biological samples and associated data from a procedure outside of the research may have a condition, disease, genetic background, or trait of interest or serve as a healthy control and must have an available parent\u002Fguardian to provide consent.\n\nExclusion Criteria:\n\n* Wards of the state.\n* For prospective skin samples: history of keloid formation, coagulation disorder, or allergy to the anesthetic.\n* For prospective blood samples: history of coagulation disorder.\n* For all prospective sample collections: 1) Subjects who refuse to adhere to NYSCF's and\u002For a collection site's safety protocol(s) will be excluded; 2) Subjects with an AIDS diagnosis and CD4 count of less than 200 cells per microliter (mcL) of blood will be excluded due to increased risk of infection.","30 Days",{"count":291,"type":21},10000,"The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to accelerate diverse disease research using cells from the body (such as skin or blood cells) to make stem cells and other types of cells, conduct research on the samples, perform genetic testing, and store the samples for future use.\n\nThrough this research, researchers hope to identify future treatments or even cures for the major diseases of our time.",[294,295,296,297,298,31,299,300,301,302,303,304,305,306,307,308,309,310,311,312,313,314,315,316,317,318,319,320,321],"ALS","Amyotrophic Lateral Sclerosis","Alzheimer Disease","Alzheimer Disease, Early Onset","Alzheimer Disease, Late Onset","Corticobasal Degeneration","Dementia","Frontotemporal Dementia","Huntington Disease","Lewy Body Disease","Multiple Sclerosis","Multiple System Atrophy","Parkinson Disease","Parkinson's Disease and Parkinsonism","Progressive Supranuclear Palsy","INAD","Diabetes","Diabetes Mellitus","Diabetes Mellitus, Type 2","Diabetes Mellitus, Type 1","Macular Degeneration","Ovarian Cancer","Cervical Cancer","Uterine Cancer","Vaginal Cancer","Vulvar Cancer","PTSD","Post Traumatic Stress Disorder",[294,295,296,31,299,300,301,302,303,304,305,306,323,308,309,310,324,325,314,326,315,316,317,318,319,320,321],"Parkinsonism","Diabetes Type 1","Diabetes Type 2","Women's Reproductive Cancer","2025-02-27",{"date":329,"type":87},"2025-03-03",{"date":331,"type":87},"2022-11-10",{"date":333,"type":21},"2045-11-10",{"name":335,"class":94},"New York Stem Cell Foundation Research Institute",{"id":337,"slug":338,"hasResults":11,"nctId":339,"briefTitle":340,"officialTitle":341,"acronym":4,"eligibilityCriteria":342,"healthyVolunteers":11,"sex":18,"minAge":4,"maxAge":4,"enrollmentInfo":343,"targetDuration":344,"studyType":23,"phases":4,"briefSummary":345,"conditions":346,"keywords":360,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":391,"lastUpdatePostDateStruct":392,"startDateStruct":394,"completionDateStruct":396,"leadSponsor":398,"locationsCount":95},"100409561","natural-history-and-longitudinal-clinical-assessments-in-ncl--batten-disease-the-international-dem-child-database-100409561","NCT04613089","Natural History and Longitudinal Clinical Assessments in NCL \u002F Batten Disease, the International DEM-CHILD Database","Natural History and Long Term Clinical Assessments of All Forms of Neuronal Ceroid Lipofuscinoses - Capturing Key Symptoms and Disease Progression as Part of the Independent, International NCL DEM-CHILD Patient Database","Inclusion Criteria:\n\n\\- Patients with a confirmed molecular diagnosis of a form of NCL Disease\n\nAdditional inclusion criteria for Group\u002FCohort: \"CLN2 Disease - ERT (Brineura) Treated\":\n\n* Documented diagnosis of TPP1 deficiency\n* Previous or current treatment with intracerebroventricular ERT with cerliponase alpha\n* Patients that are currently participating in post-marketing studies will be allowed to participate.\n\nExclusion Criteria:\n\n\\- Patients with no confirmed molecular diagnosis of a form of NCL Disease",{"count":225,"type":21},"30 Years","This is an observational study that aims at assessing the natural history of NCL diseases as part of the international DEM-CHILD Database.\n\n1. Patient data are collected from medical records, patient questionnaires and routine follow up clinical examinations with focus on assessing progression in key areas of disease such as motor, language, cognition, seizures, vision, and behavior.\n2. A local biorepository of samples from genetically defined NCL patients will be established as well as a virtual biorepository within the DEM-CHILD DB to be able to easily localize international availability of patient samples.",[115,31,347,348,349,350,351,352,353,354,355,356,357,358,359],"CLN1 Disease","CLN2 Disease","CLN3 Disease","CLN4 Disease","CLN5 Disease","CLN6 Disease","CLN7 Disease","CLN8 Disease","CLN10 Disease","CLN11 Disease","CLN12 Disease","CLN13 Disease","CLN14 Disease",[361,362,363,364,365,238,366,60,367,192,368,369,370,371,372,373,374,375,376,377,378,379,380,381,382,383,384,385,386,387,388,389,390],"INCL","LINCL","VLINCL","JNCL","ANCL","CLN","Childhood Dementia","Neurodegenerative Diseases","Neurodegenerative Disorders","Metabolic Disorders","PME","EPMR","SCAR7","SGSH","PPT1","Haltia-Santavuori Disease","TPP1","Jansky-Bielschowsky Disease","Spielmeyer-Vogt-Sjögren-Batten Disease","DNAJC5","Parry Disease","Kufs Disease Type A","MFSD8","CTSD","GRN","ATP13A2","Kufor-Rakeb Syndrome","CTSF","Kufs Disease Type B","KCTD7","2021-10-22",{"date":393,"type":87},"2021-10-29",{"date":395,"type":87},"2020-04-08",{"date":397,"type":21},"2050-04-08",{"name":399,"class":94},"Universitätsklinikum Hamburg-Eppendorf"]