[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"leigh-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:leigh-syndrome":40},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,5,0,[8,58,85,96,502],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":18,"targetDuration":21,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":43,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":46,"lastUpdatePostDateStruct":47,"startDateStruct":50,"completionDateStruct":52,"leadSponsor":54,"locationsCount":57},"100053513","global-registry-and-natural-history-study-for-mitochondrial-disorders-100053513",false,"NCT05554835","Global Registry and Natural History Study for Mitochondrial Disorders","Global Mitochondrial Registry to Define Natural History and Outcome Measures to Achieve Definite Trial Readiness for Mitochondrial Disorders","GENOMIT","Inclusion Criteria:\n\n* suspected or confirmed mitochondrial disease\n* willingness to participate\n\nExclusion Criteria:\n\n* unwillingness to participate","ALL",{"count":19,"type":20},6000,"ESTIMATED","30 Years","OBSERVATIONAL","The main goal of the project is provision of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome measures and conduction of clinical trials.",[25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42],"Mitochondrial Diseases","Kearns-Sayre Syndrome","MIDD","SANDO","SCAE","NARP Syndrome","MELAS Syndrome","MERRF Syndrome","Coenzyme Q10 Deficiency","LHON","MNGIE","MIRAS","Barth Syndrome","MDS","Mitochondrial Myopathies","Leigh Syndrome","Pearson Syndrome","CPEO",[44],"Patient Registry","RECRUITING","2026-07-09",{"date":48,"type":49},"2026-07-13","ACTUAL",{"date":51,"type":49},"2009-02-01",{"date":53,"type":20},"2040-12",{"name":55,"class":56},"LMU Klinikum","OTHER",33,{"id":59,"slug":60,"hasResults":11,"nctId":61,"briefTitle":62,"officialTitle":63,"acronym":4,"eligibilityCriteria":64,"healthyVolunteers":11,"sex":17,"minAge":65,"maxAge":66,"enrollmentInfo":67,"targetDuration":4,"studyType":69,"phases":70,"briefSummary":72,"conditions":73,"keywords":4,"overallStatus":74,"whyStopped":4,"lastUpdateSubmitDate":75,"lastUpdatePostDateStruct":76,"startDateStruct":78,"completionDateStruct":80,"leadSponsor":82,"locationsCount":4},"100592250","phase-2-a-dose-ranging-study-of-tti-0102-in-adults-and-children-with-leigh-syndrome-spectrum-lss-100592250","NCT06990984","A Dose-ranging Study of TTI-0102 in Adults and Children With Leigh Syndrome Spectrum (LSS)","A Phase 2a Partially Randomized, Placebo-controlled, Sequential Dose-ranging Study of TTI-0102 in Adults and Children With Leigh Syndrome Spectrum","Inclusion Criteria:\n\n* Individuals aged 5 years to 55 years (inclusive) and weight-eligible, at the time of informed consent \u002F assent and enrollment\n* Confirmed diagnosis of Leigh syndrome or Leigh-like disorder (Leigh syndrome spectrum \\[LSS\\]) with neurodevelopmental manifestations, which include documented developmental delay, developmental regression, or abnormal neurologic exam findings\n* Willing and able to comply with required study schedule and procedures, including daily TTI-0102 study drug dosing requirements, i.e., able to ingest solution orally\n* Adequate liver function as evidenced by total bilirubin \\\u003C 1.5x upper limit of normal (ULN) and liver function tests \\\u003C 3x ULN\n* Normal hematologic parameters defined as:\n\nAbsolute neutrophil count ≥ 1.0 x 109\u002FL Platelet count ≥ 100,000\u002Fmm3 (100 x 109\u002FL) Hemoglobin ≥ 9 g\u002FdL\n\n* Non-fasting serum triglycerides \\\u003C 300 mg\u002FdL and non-fasting serum cholesterol \\\u003C 300 mg\u002FdL\n* Serum amylase and lipase \\\u003C 2x ULN\n* Adequate immunoglobulin levels as outlined below that, in the opinion of the investigator, will not place the patient at increased risk of infection:\n\nIgG ≥ 200 mg\u002FdL IgM ≥ 30 mg\u002FdL IgA ≥ 10 mg\u002FdL\n\n* All sexually-active participants must agree to use effective contraception during study participation:\n\n  1. Females of reproductive potential must agree to use effective contraception without interruption from 28 days prior to starting TTI-0102 through 30 days after last dose of TTI-0102; have a negative serum pregnancy test result at screening; and agree to ongoing urine pregnancy testing during the subsequent study period.\n  2. Male patients must practice abstinence or agree to use a condom during sexual contact with a pregnant female or a female of reproductive potential while participating in the study and through 30 days after the last dose of TTI-0102\n\n     Exclusion Criteria:\n* Documented diagnosis of concurrent inborn errors of metabolism\n* Non-elective hospitalization related to their Leigh syndrome or mitochondrial disease within 60 days prior to screening\n* Treatment with taurine during the previous 30 days of screening, and not willing to discontinue for the duration of the study\n* Severe gastrointestinal disease including gastroparesis\n* Presence or having sequelae of gastrointestinal, liver, kidney, or other conditions known to interfere with the absorption, distribution, metabolism, or excretion of drugs\n* In the opinion of the investigator, clinically-significant or severe cardiac conditions, at the time of screening\n* History of drug or alcohol abuse\n* History of pancreatitis\n* Known or suspected hypersensitivity to cysteamine\n* Allergy to any medicine containing mercaptamine, penicillamine, or known hypersensitivity to any of the study drug ingredients\n* Exposure to any live vaccinations within 30 days prior to the first dose of TTI-0102, except for the influenza and \u002F or COVID-19 vaccines\n* Planned surgical procedure during the study period\n* Clinically-significant proteinuria that requires ongoing medical therapy\n* Patients who are breastfeeding and \u002F or are pregnant\n* History of solid organ transplant or bone marrow transplant\n* Treatment with any investigational drug, including an investigational drug for mitochondrial disease, within 30 days prior to receiving the first dose of TTI-0102\n* Patients with confirmed or suspected increased intracranial pressure, pseudotumor cerebri \u002F idiopathic intracranial hypertension, and or papilledema\n* Currently active malignancy (other than adequately treated non-melanoma skin cancers, carcinoma in situ of the cervix, or other adequately treated carcinoma in situ) and \u002F or ongoing treatment for malignancy are ineligible. Patients are not considered to have a currently active malignancy if they have completed therapy and are free of disease for at least one year\n* Recent infection requiring systemic anti-infective treatment that was completed ≤ 14 days prior to screening\n* Uncontrolled diabetes mellitus, as defined by HbA1c \\> 8%, despite adequate therapy\n* History of interstitial lung disease and \u002F or pneumonitis\n* Known human immunodeficiency virus, active hepatitis B and \u002F or hepatitis C infection(s)\n* Any uncontrolled psychiatric or medical condition which, in the opinion of the investigator, would interfere with the patient's safe participation in the study\n* Any other condition or prior therapy that in the opinion of the investigator would render the participant unsuitable for this study, including inability to cooperate fully with the requirements of the study protocol and \u002F or likelihood of non-compliance with any study requirements","5 Years","55 Years",{"count":68,"type":20},18,"INTERVENTIONAL",[71],"PHASE2","The goal of this clinical trial is to investigate oral TTI-0102 to evaluate its pharmacokinetics, safety, and preliminary efficacy in patients with Leigh syndrome spectrum, in three sequences. First sequence will be placebo-controlled and include 12 adolescents and adults weighing more than 40 kg. Second sequence will be open-label and include 3 adults and 3 children weighing 25-40 kg. Third sequence will also be open-label and will include 3 children weighing 20-25 kg. The main questions clinical trial aims to answer are:\n\n* Characterize the relationship between TTI-0102 drug levels by measuring\n\n  1. cysteamine pharmacokinetic (PK) parameters\n  2. pharmacodynamic (PD) efficacy measures\n* Generate a population PK model and determine dose level for later dosing groups\n* collect data to inform the design of a subsequent phase 2b\u002F3 study of TTI-0102 in this patient population\n\nParticipants will be asked to:\n\n* Take the study drug twice daily for 12 weeks\n* Visit the clinic for checkups and testing 7 times in total: once prior to study drug dosing, then 5 times over the 12-week treatment period and one more time a month after the last study drug dose.",[40],"NOT_YET_RECRUITING","2025-07-08",{"date":77,"type":49},"2025-07-11",{"date":79,"type":20},"2025-10",{"date":81,"type":20},"2026-09",{"name":83,"class":84},"Thiogenesis Therapeutics, Inc.","INDUSTRY",{"id":86,"slug":4,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":87,"targetDuration":21,"studyType":22,"phases":4,"briefSummary":23,"conditions":88,"keywords":89,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":90,"lastUpdatePostDateStruct":91,"startDateStruct":93,"completionDateStruct":94,"leadSponsor":95,"locationsCount":68},"100481885",{"count":19,"type":20},[25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42],[44],"2025-06-02",{"date":92,"type":49},"2025-06-05",{"date":51,"type":49},{"date":53,"type":20},{"name":55,"class":56},{"id":97,"slug":98,"hasResults":11,"nctId":99,"briefTitle":100,"officialTitle":101,"acronym":102,"eligibilityCriteria":103,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":104,"targetDuration":106,"studyType":22,"phases":4,"briefSummary":107,"conditions":108,"keywords":449,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":492,"lastUpdatePostDateStruct":493,"startDateStruct":495,"completionDateStruct":497,"leadSponsor":499,"locationsCount":501},"100193378","rare-disease-patient-registry--natural-history-study---coordination-of-rare-diseases-at-sanford-100193378","NCT01793168","Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford","Coordination of Rare Diseases at Sanford","CoRDS","Inclusion Criteria:\n\n* Diagnosis of a rare disease, a disease of unknown prevalence, undiagnosed or an unaffected carrier of a rare\u002Funcommon disease\n\nExclusion Criteria:\n\n* Diagnosis of a disease which is not rare",{"count":105,"type":20},20000,"100 Years","CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org\u002FCoRDS to enroll.",[109,110,111,112,113,114,115,116,117,118,119,120,121,122,123,124,125,126,127,128,129,130,131,132,133,134,135,136,137,138,139,140,141,142,143,144,145,146,147,148,149,150,151,152,153,154,155,156,157,158,159,160,161,162,163,164,165,166,167,168,169,170,171,172,173,174,175,176,177,178,179,180,181,182,183,184,185,186,187,188,189,190,191,192,193,194,195,196,197,198,199,200,201,202,203,204,205,206,207,208,209,210,211,212,213,214,215,216,217,218,219,220,221,222,223,224,225,226,227,228,229,230,231,232,233,234,235,236,237,238,239,240,30,241,242,243,244,245,246,247,248,40,249,250,251,252,253,254,255,256,257,258,259,260,261,262,263,264,265,266,267,268,269,270,271,272,273,274,275,276,277,278,279,280,281,282,283,284,285,286,287,288,289,290,291,292,293,294,295,296,297,298,299,300,301,302,303,304,305,306,307,308,309,310,311,312,313,314,315,316,317,318,319,320,321,322,323,324,325,326,327,328,329,330,331,332,333,334,335,336,337,338,339,340,341,342,343,344,345,346,347,348,349,350,351,352,353,354,355,356,357,358,359,360,361,362,363,364,365,366,367,368,369,370,371,372,373,374,375,376,377,378,379,380,381,382,383,384,385,386,387,388,389,390,391,392,393,394,395,396,397,398,399,400,401,402,403,404,405,406,407,408,409,25,410,411,412,413,414,415,416,417,418,419,420,421,422,423,424,425,426,427,428,429,430,431,432,433,434,435,436,437,438,439,440,441,442,443,444,445,446,447,448],"Rare Disorders","Undiagnosed Disorders","Disorders of Unknown Prevalence","Cornelia De Lange Syndrome","Prenatal Benign Hypophosphatasia","Perinatal Lethal Hypophosphatasia","Odontohypophosphatasia","Adult Hypophosphatasia","Childhood-onset Hypophosphatasia","Infantile Hypophosphatasia","Hypophosphatasia","Kabuki Syndrome","Bohring-Opitz Syndrome","Narcolepsy Without Cataplexy","Narcolepsy-cataplexy","Hypersomnolence Disorder","Idiopathic Hypersomnia Without Long Sleep Time","Idiopathic Hypersomnia With Long Sleep Time","Idiopathic Hypersomnia","Kleine-Levin Syndrome","Kawasaki Disease","Leiomyosarcoma","Leiomyosarcoma of the Corpus Uteri","Leiomyosarcoma of the Cervix Uteri","Leiomyosarcoma of Small Intestine","Acquired Myasthenia Gravis","Addison Disease","Hyperacusis (Hyperacousis)","Juvenile Myasthenia Gravis","Transient Neonatal Myasthenia Gravis","Williams Syndrome","Lyme Disease","Myasthenia Gravis","Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome)","Isolated Klippel-Feil Syndrome","Frasier Syndrome","Denys-Drash Syndrome","Beckwith-Wiedemann Syndrome","Emanuel Syndrome","Isolated Aniridia","Axenfeld-Rieger Syndrome","Aniridia-intellectual Disability Syndrome","Aniridia - Renal Agenesis - Psychomotor Retardation","Aniridia - Ptosis - Intellectual Disability - Familial Obesity","Aniridia - Cerebellar Ataxia - Intellectual Disability","Aniridia - Absent Patella","Aniridia","Peters Anomaly - Cataract","Peters Anomaly","Potocki-Shaffer Syndrome","Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11","Silver-Russell Syndrome Due to Imprinting Defect of 11p15","Silver-Russell Syndrome Due to 11p15 Microduplication","Syndromic Aniridia","WAGR Syndrome","Wolf-Hirschhorn Syndrome","4p16.3 Microduplication Syndrome","4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome","Autosomal Recessive Stickler Syndrome","Stickler Syndrome Type 2","Stickler Syndrome Type 1","Stickler Syndrome","Mucolipidosis Type 4","X-linked Spinocerebellar Ataxia Type 4","X-linked Spinocerebellar Ataxia Type 3","X-linked Intellectual Disability - Ataxia - Apraxia","X-linked Progressive Cerebellar Ataxia","X-linked Non Progressive Cerebellar Ataxia","X-linked Cerebellar Ataxia","Vitamin B12 Deficiency Ataxia","Toxic Exposure Ataxia","Unclassified Autosomal Dominant Spinocerebellar Ataxia","Thyroid Antibody Ataxia","Sporadic Adult-onset Ataxia of Unknown Etiology","Spinocerebellar Ataxia With Oculomotor Anomaly","Spinocerebellar Ataxia With Epilepsy","Spinocerebellar Ataxia With Axonal Neuropathy Type 2","Spinocerebellar Ataxia Type 8","Spinocerebellar Ataxia Type 7","Spinocerebellar Ataxia Type 6","Spinocerebellar Ataxia Type 5","Spinocerebellar Ataxia Type 4","Spinocerebellar Ataxia Type 37","Spinocerebellar Ataxia Type 36","Spinocerebellar Ataxia Type 35","Spinocerebellar Ataxia Type 34","Spinocerebellar Ataxia Type 32","Spinocerebellar Ataxia Type 31","Spinocerebellar Ataxia Type 30","Spinocerebellar Ataxia Type 3","Spinocerebellar Ataxia Type 29","Spinocerebellar Ataxia Type 28","Spinocerebellar Ataxia Type 27","Spinocerebellar Ataxia Type 26","Spinocerebellar Ataxia Type 25","Spinocerebellar Ataxia Type 23","Spinocerebellar Ataxia Type 22","Spinocerebellar Ataxia Type 21","Spinocerebellar Ataxia Type 20","Spinocerebellar Ataxia Type 2","Spinocerebellar Ataxia Type 19\u002F22","Spinocerebellar Ataxia Type 18","Spinocerebellar Ataxia Type 17","Spinocerebellar Ataxia Type 16","Spinocerebellar Ataxia Type 15\u002F16","Spinocerebellar Ataxia Type 14","Spinocerebellar Ataxia Type 13","Spinocerebellar Ataxia Type 12","Spinocerebellar Ataxia Type 11","Spinocerebellar Ataxia Type 10","Spinocerebellar Ataxia Type 1 With Axonal Neuropathy","Spinocerebellar Ataxia Type 1","Spinocerebellar Ataxia - Unknown","Spinocerebellar Ataxia - Dysmorphism","Non Progressive Epilepsy and\u002For Ataxia With Myoclonus as a Major Feature","Spasticity-ataxia-gait Anomalies Syndrome","Spastic Ataxia With Congenital Miosis","Spastic Ataxia - Corneal Dystrophy","Spastic Ataxia","Rare Hereditary Ataxia","Rare Ataxia","Recessive Mitochondrial Ataxia Syndrome","Progressive Epilepsy and\u002For Ataxia With Myoclonus as a Major Feature","Posterior Column Ataxia - Retinitis Pigmentosa","Post-Stroke Ataxia","Post-Head Injury Ataxia","Post Vaccination Ataxia","Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract","Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus","Non-hereditary Degenerative Ataxia","Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity","Olivopontocerebellar Atrophy - Deafness","Myoclonus - Cerebellar Ataxia - Deafness","Multiple System Atrophy, Parkinsonian Type","Multiple System Atrophy, Cerebellar Type","Multiple System Atrophy","Maternally-inherited Leigh Syndrome","Machado-Joseph Disease Type 3","Machado-Joseph Disease Type 2","Machado-Joseph Disease Type 1","Late-onset Ataxia With Dementia","Infection or Post Infection Ataxia","GAD Ataxia","Hereditary Episodic Ataxia","Gliadin\u002FGluten Ataxia","Friedreich Ataxia","Fragile X-associated Tremor\u002FAtaxia Syndrome","Familial Paroxysmal Ataxia","Exposure to Medications Ataxia","Episodic Ataxia With Slurred Speech","Episodic Ataxia Unknown Type","Episodic Ataxia Type 7","Episodic Ataxia Type 6","Episodic Ataxia Type 5","Episodic Ataxia Type 4","Episodic Ataxia Type 3","Episodic Ataxia Type 1","Epilepsy and\u002For Ataxia With Myoclonus as Major Feature","Early-onset Spastic Ataxia-neuropathy Syndrome","Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity","Early-onset Cerebellar Ataxia With Retained Tendon Reflexes","Early-onset Ataxia With Dementia","Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia","Dilated Cardiomyopathy With Ataxia","Cataract - Ataxia - Deafness","Cerebellar Ataxia, Cayman Type","Cerebellar Ataxia With Peripheral Neuropathy","Cerebellar Ataxia - Hypogonadism","Cerebellar Ataxia - Ectodermal Dysplasia","Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss","Brain Tumor Ataxia","Brachydactyly - Nystagmus - Cerebellar Ataxia","Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia","Autosomal Recessive Syndromic Cerebellar Ataxia","Autosomal Recessive Spastic Ataxia With Leukoencephalopathy","Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay","Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria","Autosomal Recessive Spastic Ataxia","Autosomal Recessive Metabolic Cerebellar Ataxia","Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine","Autosomal Recessive Ataxia, Beauce Type","Autosomal Recessive Ataxia Due to Ubiquinone Deficiency","Autosomal Recessive Ataxia Due to PEX10 Deficiency","Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia","Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency","Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency","Autosomal Recessive Congenital Cerebellar Ataxia","Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome","Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity","Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency","Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect","Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion","Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation","Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness","Autosomal Recessive Cerebellar Ataxia","Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly","Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation","Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy","Autosomal Dominant Spastic Ataxia Type 1","Autosomal Dominant Spastic Ataxia","Autosomal Dominant Optic Atrophy","Ataxia-telangiectasia Variant","Ataxia-telangiectasia","Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy","Autosomal Dominant Cerebellar Ataxia Type 4","Autosomal Dominant Cerebellar Ataxia Type 3","Autosomal Dominant Cerebellar Ataxia Type 2","Autosomal Dominant Cerebellar Ataxia Type 1","Autosomal Dominant Cerebellar Ataxia","Ataxia-telangiectasia-like Disorder","Ataxia With Vitamin E Deficiency","Ataxia With Dementia","Ataxia - Oculomotor Apraxia Type 1","Ataxia - Other","Ataxia - Genetic Diagnosis - Unknown","Acquired Ataxia","Adult-onset Autosomal Recessive Cerebellar Ataxia","Alcohol Related Ataxia","Multiple Endocrine Neoplasia","Multiple Endocrine Neoplasia Type II","Multiple Endocrine Neoplasia Type 1","Multiple Endocrine Neoplasia Type 2","Multiple Endocrine Neoplasia, Type IV","Multiple Endocrine Neoplasia, Type 3","Multiple Endocrine Neoplasia (MEN) Syndrome","Multiple Endocrine Neoplasia Type 2B","Multiple Endocrine Neoplasia Type 2A","Atypical Hemolytic Uremic Syndrome","Atypical HUS","Wiedemann-Steiner Syndrome","Breast Implant-Associated Anaplastic Large Cell Lymphoma","Autoimmune\u002FInflammatory Syndrome Induced by Adjuvants (ASIA)","Hemophagocytic Lymphohistiocytosis","Behcet's Disease","Alagille Syndrome","Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD)","Lowe Syndrome","Pitt Hopkins Syndrome","1p36 Deletion Syndrome","Jansen Type Metaphyseal Chondrodysplasia","Cockayne Syndrome","Chronic Recurrent Multifocal Osteomyelitis","CRMO","Malan Syndrome","Hereditary Sensory and Autonomic Neuropathy Type Ie","VCP Disease","Hypnic Jerking","Sleep Myoclonus","Mollaret Meningitis","Recurrent Viral Meningitis","CRB1","Leber Congenital Amaurosis","Retinitis Pigmentosa","Rare Retinal Disorder","KCNMA1-Channelopathy","Primary Biliary Cirrhosis","ZMYND11","Transient Global Amnesia","Glycogen Storage Disease","Alstrom Syndrome","White Sutton Syndrome","DNM1","EIEE31","Myhre Syndrome","Recurrent Respiratory Papillomatosis","Laryngeal Papillomatosis","Tracheal Papillomatosis","Refsum Disease","Nicolaides Baraitser Syndrome","Leukodystrophy","Tango2","Cauda Equina Syndrome","Rare Gastrointestinal Disorders","Achalasia-Addisonian Syndrome","Achalasia Cardia","Achalasia Icrocephaly Syndrome","Anal Fistula","Congenital Sucrase-Isomaltase Deficiency","Eosinophilic Gastroenteritis","Idiopathic Gastroparesis","Hirschsprung Disease","Rare Inflammatory Bowel Disease","Intestinal Pseudo-Obstruction","Scleroderma","Short Bowel Syndrome","Sacral Agenesis","Sacral Agenesis Syndrome","Caudal Regression","Scheuermann Disease","SMC1A Truncated Mutations (Causing Loss of Gene Function)","Cystinosis","Juvenile Nephropathic Cystinosis","Nephropathic Cystinosis","Kennedy Disease","Spinal Bulbar Muscular Atrophy","Warburg Micro Syndrome","Mucolipidoses","Mitochondrial Aminoacyl-tRNA Synthetases","Mt-aaRS Disorders","Hypertrophic Olivary Degeneration","Non-Ketotic Hyperglycinemia","Fish Odor Syndrome","Halitosis","Isolated Congenital Asplenia","Lambert Eaton (LEMS)","Biliary Atresia","STAG1 Gene Mutation","Coffin Lowry Syndrome","Borjeson-Forssman-Lehman Syndrome","Blau Syndrome","Arginase 1 Deficiency","HSPB8 Myopathy","Beta-Mannosidosis","TBX4 Syndrome","DHDDS Gene Mutations","MAND-MBD5-Associated Neurodevelopmental Disorder","Constitutional Mismatch Repair Deficiency (CMMRD)","SPATA5 Disorder","SPATA5L1 Related Disorder","Acrodysostosis","Multi-systematic Smooth Muscle Dysfunction Syndrome","CRELD1 (Cysteine Rich With EGF Like Domains 1)","GNB1 Syndrome","Pyruvate Dehydrogenase Complex Deficiency Disease","Beta Mannosidosis","Kbg Syndrome","Labrune Syndrome","Metachromatic Leukodystrophy (MLD)","Moyamoya Disease","OPHN1 Syndrome","Oculopharyngeal Muscular Dystrophy (OPMD)","TUBB3 Mutation","WOREE (WWOX-related Epileptic Encephalopathy","SCAR12","Skraban-Deardorff Syndrome","Hereditary Myopathy With Early Respiratory Failure",[450,451,452,453,454,163,455,456,170,457,129,458,459,460,331,340,461,462,120,463,464,128,465,130,466,119,467,468,343,469,470,346,347,471,349,350,472,473,353,474,475,476,403,477,478,479,480,481,482,483,408,484,485,486,412,413,487,488,489,490,491],"Rare Diseases","Neglected Diseases","Orphan Diseases","Rare Disease Research","Registries","Ataxia","Cornelia de Lange Syndrome","Ataxia Telangiectasia","Batten Disease","Mucolipidosis IV","Klippel-Feil Syndrome","Undiagnosed","Uncommon Disease","Hypersomnia","Hyperacusis","Marinesco-Sjogren Syndrome","4p-\u002FWolf-Hirschhorn Syndrome","Narcolepsy","Wiedermann-Steiner Syndrome","Autoimmune\u002Finflammatory Syndrome Induced by Adjuvants (ASIA)","Hemophagocytic Lymphohistiocytosis (HLH)","Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD)","1p36 deletion syndrome","Jansen metaphyseal chondrodysplasia","Chronic recurrent multifocal osteomyelitis (CRMO)","Malan syndrome","Hereditary Sensory and Autonomic Neuropathy","Juvenile nephropathic cystinosis","Nephropathic infantile cystinosis","Ocular cystinosis","Kennedy disease","Spinal Bulbar Muscular Atrophy (SBMA)","SMC1A Truncated Mutations (causing loss of gene function)","Leigh syndrome","Mucolipidosis","Mitochondrial aminoacyl-tRNA synthetases (Mt-aaRS Disorders)","Shine Syndrome","Intestinal Bromhidrosis Syndrome","Fish odor syndrome","Autosomal recessive extra oral halitosis","CACNA1H mutation","Dimethylglycine dehydrogenase deficiency","2025-05-22",{"date":494,"type":49},"2025-05-29",{"date":496,"type":49},"2010-07",{"date":498,"type":20},"2100-12",{"name":500,"class":56},"Sanford Health",2,{"id":503,"slug":504,"hasResults":11,"nctId":505,"briefTitle":506,"officialTitle":506,"acronym":4,"eligibilityCriteria":507,"healthyVolunteers":11,"sex":17,"minAge":508,"maxAge":106,"enrollmentInfo":509,"targetDuration":511,"studyType":22,"phases":4,"briefSummary":512,"conditions":513,"keywords":518,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":519,"lastUpdatePostDateStruct":520,"startDateStruct":522,"completionDateStruct":524,"leadSponsor":526,"locationsCount":528},"100296313","the-international-registry-for-leigh-syndrome-100296313","NCT03137355","The International Registry for Leigh Syndrome","Inclusion Criteria:\n\n* All participants with a diagnosis of Leigh syndrome will be invited to participate\n\nExclusion Criteria:\n\n* People without Leigh syndrome","0 Days",{"count":510,"type":20},200,"10 Years","The purpose of this study is to develop a database containing clinical and laboratory information for patients with Leigh syndrome. The goal is to provide a greater understanding of Leigh syndrome allowing further characterization of this disease.",[40,514,515,516,517],"Leigh Disease","Leigh's Necrotizing Encephalopathy","Subacute Necrotizing Encephalomyopathy","Subacute Necrotizing Encephalomyelopathy",[40,514,515,517,516],"2023-11-30",{"date":521,"type":49},"2023-12-01",{"date":523,"type":49},"2015-06-17",{"date":525,"type":20},"2030-06-17",{"name":527,"class":56},"The University of Texas Health Science Center, Houston",1]