[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"spinocerebellar-ataxia-type-6\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:spinocerebellar-ataxia-type-6":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,6,0,[8,49,71,101,130,143],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":29,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":37,"lastUpdatePostDateStruct":38,"startDateStruct":41,"completionDateStruct":43,"leadSponsor":45,"locationsCount":48},"100053615","deep-brain-stimulation-for-spinocerebellar-ataxia-100053615",false,"NCT07288437","Deep Brain Stimulation for Spinocerebellar Ataxia","Adaptive Deep Brain Stimulation Targeting the Dentate Nucleus to Treat Spinocerebellar Ataxia","Inclusion Criteria:\n\n1. A diagnosis of SCA6 by a Movement Disorders specialist following established criteria recommended by the Movement Disorders Society.\n2. A positive genetic test for SCA6.\n3. A total scale ≥ 8 on the Scale of the Assessment and Rating of Ataxia (SARA) rating scale.\n4. Ability to walk with or without support (score \\\u003C 8 on the 'gait' subsection of the SARA rating scale).\n5. Age ≥ 21 years and \\\u003C 89 years.\n6. Ability to give informed consent for the study.\n7. Be able to understand the study protocol.\n\nExclusion Criteria:\n\n1. Inability or unwillingness to comply with the study protocol.\n2. History of previously implanted neurostimulators, pacemakers, defibrillators, or metallic head implants.\n3. Severe cognitive impairment or dementia, defined as a score \\\u003C 21 on the Montreal Cognitive Assessment (MoCA).\n4. Evidence of ataxia due to other etiologies, including but not limited to:\n\n   1. Genetic\u002Finherited disorders other than SCA6.\n   2. Acquired causes: tramautic brain injury, multiple sclerosis, paraneplastic cerebellar degeneration, infections or post-infectious cerebellitis, autoimmune ataxias (e.g., anti-GAD, gluten ataxia).\n   3. Toxic\u002Fmetabolic causes: alcoholic cerebellar degeneration, vitamin deficiencies.\n   4. Structural, vascular, or neoplastic causes: cerebellar stroke, tumors, congenital malformations.\n   5. Suspected multiple system atrophy-cerebellar type (MSA-C).\n5. The presence of active and untreated psychiatric illness, severe depression (Beck Depression Inventory ≥ 21), or personality disorder at the discretion of the study team.\n6. Coagulopathy, uncontrolled epilepsy, or other medical condition considered to place the patient at elevated risk for surgical complications. Presence of a concomitant medical condition that, in the investigator's opinion, may interfere with the study participation or gait\u002Fbalance, for example, severe arthritis.\n7. Presence of a concominant medical condition that, in the investigator's opinion, may interfere with the study participation or gait\u002Fbalance, for example, severe arthritis.\n8. Requirement of diathermy, electroconvulsive therapy, or transcranial magnetic stimulation.\n9. Pregnancy or lactation.\n10. Active suicidal ideation, defined as fined as a \"Yes\" response to questions #2-5 on the Columbia Suicide Severity Rating Scale, C-SSRS.\n11. Refractory Epilepsy.","ALL","21 Years","89 Years",{"count":20,"type":21},5,"ESTIMATED","INTERVENTIONAL",[24],"NA","The goal of this clinical trial is to test the safety of placing Deep Brain Stimulators (DBS) in the cerebellum and using electrical stimulation of that part of the brain to treat symptoms related to the participants spinocerebellar ataxia. Five adults diagnosed with spinocerebellar ataxia type 6 (SCA6) with inadequate cerebellar symptom relief will be implanted with a Medtronic Percept Primary Cell Neurostimulator. The device will be implanted into the dentate nucleus, which is a structure located within the cerebellum that is responsible for controlling movement and balance.\n\nSpecifically, the investigators will be using adaptive deep brain stimulation (aDBS), which analyzes brain signals and automatically adjusts the strength, timing, and pattern of stimulation according to the patient's needs at any given moment. This study will evaluate the feasibility, safety, and tolerability of aDBS in SCA6 patients.",[27,28],"Spinocerebellar Ataxia (SCA)","Spinocerebellar Ataxia Type 6",[30,31,32,28,33,34,35],"adaptive deep brain stimulation","aDBS","Spinocerebellar Ataxia","SCA6","DBS","deep brain stimulation","RECRUITING","2026-07-10",{"date":39,"type":40},"2026-07-13","ACTUAL",{"date":42,"type":40},"2026-04-27",{"date":44,"type":21},"2031-03",{"name":46,"class":47},"University of California, San Francisco","OTHER",2,{"id":50,"slug":51,"hasResults":11,"nctId":52,"briefTitle":53,"officialTitle":54,"acronym":4,"eligibilityCriteria":55,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":56,"targetDuration":4,"studyType":22,"phases":57,"briefSummary":58,"conditions":59,"keywords":60,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":61,"lastUpdatePostDateStruct":62,"startDateStruct":64,"completionDateStruct":66,"leadSponsor":68,"locationsCount":70},"100617966","interposed-nucleus-adbs-for-ataxia-100617966","NCT07325487","Interposed Nucleus aDBS for Ataxia","Adaptive Deep Brain Stimulation Targeting the Interposed Nucleus to Treat Spinocerebellar Ataxia","Inclusion Criteria:\n\n* A diagnosis of SCA6 by a movement disorders specialist following established criteria recommended by the Movement Disorders Society\n* A positive genetic test for SCA6\n* A total score ≥ 8 on the Scale of the Assessment and Rating of Ataxia (SARA) rating scale\n* Ability to walk with or without support (score \\\u003C8 on the 'gait' subsection of the SARA rating scale)\n* Age ≥ 21 years and \\\u003C89 years\n* Ability to give informed consent for the study\n* Ability to understand the study protocol\n\nExclusion Criteria:\n\n* Inability or unwillingness to comply with the study protocol\n* History of previously implanted neurostimulators, pacemakers, defibrillators, or metallic head implants\n* Severe cognitive impairment or dementia, defined as a score \\\u003C21 on the Montreal Cognitive Assessment (MOCA)\n* Evidence of ataxia due to other etiologies, including but not limited to:\n\n  * Genetic\u002Finherited disorders other than SCA6\n  * Acquired causes: traumatic brain injury, multiple sclerosis, paraneoplastic cerebellar degeneration, infections or post-infectious cerebellitis, autoimmune ataxias (e.g., anti-GAD, gluten ataxia)\n  * Toxic\u002Fmetabolic causes: alcoholic cerebellar degeneration, vitamin deficiencies\n  * Structural, vascular, or neoplastic causes: cerebellar stroke, tumors, congenital malformations\n  * Suspected multiple system atrophy-cerebellar type (MSA-C)\n* Presence of active and untreated psychiatric illness, severe depression (Beck Depression Inventory ≥ 21), or personality disorder at the discretion of the study team\n* Coagulopathy, uncontrolled epilepsy, or other medical conditions that are considered to place the patient at elevated risk for surgical complications\n* Presence of a concomitant medical condition that, in the investigator's opinion, may interfere with the study participation or gait\u002Fbalance, for example, severe arthritis\n* Requirement of diathermy, electroconvulsive therapy, or transcranial magnetic stimulation\n* Pregnancy or lactation\n* Active suicidal ideation, defined as fined as a \"Yes\" response to questions #2-5 within the past one month on the Columbia Suicide Severity Rating Scale, C-SSRS\n* Refractory epilepsy",{"count":20,"type":21},[24],"This is a single-center, open-label study designed to evaluate the feasibility, safety, and preliminary efficacy of cerebellar adaptive deep brain stimulation (aDBS) in adults with spinocerebellar ataxia type 6 (SCA6). A total of 5 participants will be enrolled.\n\nParticipants will undergo surgical implantation of deep brain stimulation (DBS) leads targeting the motor interposed nucleus of the cerebellum. The leads will be connected to one or two implantable pulse generators capable of delivering stimulation to deep brain structures and recording neural activity.\n\nParticipants will complete up to 18 in-person study visits over a 24-month follow-up period. During these visits, neural signals will be recorded under varying behavioral tasks and stimulation conditions.\n\nEarly study visits will be used to identify optimal stimulation parameters and neural biomarkers associated with disease state. These biomarkers will subsequently be used to implement adaptive DBS, in which stimulation amplitude is automatically adjusted in response to recorded neural activity.\n\nStudy outcomes will include assessments of safety and feasibility of cerebellar aDBS, as well as preliminary evaluation of its effects on clinical measures.",[27,28],[33,32,30,31,28,34,35],"2026-06-24",{"date":63,"type":40},"2026-06-29",{"date":65,"type":40},"2026-06-02",{"date":67,"type":21},"2031-06",{"name":69,"class":47},"University of Florida",1,{"id":72,"slug":73,"hasResults":11,"nctId":74,"briefTitle":75,"officialTitle":76,"acronym":4,"eligibilityCriteria":77,"healthyVolunteers":11,"sex":16,"minAge":78,"maxAge":4,"enrollmentInfo":79,"targetDuration":4,"studyType":22,"phases":81,"briefSummary":83,"conditions":84,"keywords":88,"overallStatus":89,"whyStopped":4,"lastUpdateSubmitDate":90,"lastUpdatePostDateStruct":91,"startDateStruct":93,"completionDateStruct":95,"leadSponsor":97,"locationsCount":100},"100609954","phase-3-pivotal-study-of-n-acetyl-l-leucine-for-cacna1a-100609954","NCT07221292","Pivotal Study of N-acetyl-L-leucine for CACNA1A","Effects of N-Acetyl-L-Leucine on CACNA1A Disorders: A Phase III, Randomized, Placebo-controlled, Double-blind, Crossover Study","Inclusion Criteria: Individuals who meet all of the following criteria are eligible to participate in the study:\n\n1. Written informed consent signed by the patient and\u002For their legal representative \u002F parent\u002F impartial witness.\n2. Male or female aged ≥4 years with a genetically-confirmed diagnosis of a CACNA1A Disorder (including patients with loss-of-function and fain-of-function mutations, e.g. Episodic Ataxia Type 2 (EA2), Familial Hemiplegic Migraine Type 1, Spinocerebellar Ataxia type C (SCA6), Developmental and Epileptic encephalopathy 42 (DEE42), Congenital ataxia or cerebellar hypoplasia due to a CACNA1A mutation) at the time of signing informed consent.\n3. Females of childbearing potential, defined as a premenopausal female capable of becoming pregnant, will be included if they are either sexually inactive (sexually abstinent for 14 days prior to the first dose and confirm to continue through 28 days after the last dose) or using one of the following highly effective contraceptives (i.e. results in \\\u003C1% failure rate when used consistently and correctly) 14 days prior to the first dose continuing through 28 days after the last dose:\n\n   1. intrauterine device (IUD);\n   2. surgical sterilization of the partner (vasectomy for 6 months minimum);\n   3. combined (estrogen or progestogen containing) hormonal contraception associated with the inhibition of ovulation (either oral, intravaginal, or transdermal);\n   4. progestogen only hormonal contraception associated with the inhibition of ovulation (either oral, injectable, or implantable);\n   5. intrauterine hormone releasing system (IUS);\n   6. bilateral tubal occlusion.\n4. Females of non-childbearing potential who have undergone one of the following sterilization procedures at least 6 months prior to the first dose:\n\n   1. hysteroscopic sterilization;\n   2. bilateral salpingectomy;\n   3. hysterectomy;\n   4. bilateral oophorectomy; OR be postmenopausal with amenorrhea for at least 1 year prior to the first dose and follicle stimulating hormone (FSH) serum levels consistent with postmenopausal status. FSH analysis for postmenopausal women will be done at screening. FSH levels should be in the postmenopausal range as determined by the central laboratory.\n5. Non-vasectomized male patient agrees to use a condom with spermicide during the study until 90 days beyond the last dose of study medication and the female partner agrees to comply with inclusion criteria 3 or 4. For a vasectomized male who has had his vasectomy 6 months or more prior to study start, it is required that they use a condom during sexual intercourse. A male who has been vasectomized less than 6 months prior to study start must follow the same restrictions as a non-vasectomized male.\n6. If male, patient agrees not to donate sperm from the first dose until 90 days after their last dose.\n7. Patients who have ataxia symptoms which (outside of episodes, if applicable) fall within:\n\n   1. A SARA score of 7 ≤ X ≤ 34 points (out of 40) AND\n   2. Either:\n\n   i. Within the 2-7 range (0-8 range) of the Gait subtest of the SARA scale OR ii. Be able to perform the 9-Hole Peg Test with Dominant Hand (9HPT-D) (SCAFI subtest) in 20 ≤ X ≤150 seconds.\n8. Weight ≥15 kg at screening.\n9. Patients are willing to disclose their existing medications\u002Ftherapies for (the symptoms of) CACNA1A disorder, including those on the prohibited medication list. Non-prohibited medications\u002Ftherapies, therapy, and physiotherapy are permitted provided:\n\n   1. The Investigator does not believe the medication\u002Ftherapy will interfere with the study protocol\u002Fresults\n   2. Patients have been on a stable dose\u002Fduration and type of therapy for at least 42 days before Visit 1 (Baseline 1)\n   3. Patients are willing to maintain a stable dose\u002Fdo not change their therapy throughout the duration of the study.\n10. An understanding of the implications of study participation, provided in the written patient information and informed consent by patients or their legal representative\u002Fparent, and demonstrates a willingness to comply with instructions and attend required study visits (for children this criterion will also be assessed in parents or appointed guardians).\n\n    \\-\n\nExclusion Criteria: Individuals who meet any of the following criteria are not eligible to participate in the study:\n\n1. Patients who have any known hypersensitivity or history of hypersensitivity to:\n\n   1. Acetyl-Leucine (DL-, L-, D-) or derivatives.\n   2. Excipients the IB1001 sachet (namely isomalt, hypromellose, and strawberry flavor).\n   3. Excipients the placebo sachet (namely isomalt, hypromellose, strawberry flavor, citric acid, microcrystalline cellulose, lactose, denatonium benzoate).\n2. Simultaneous participation in another clinical study or participation in any clinical study involving administration of an investigational medicinal product (IMP; 'study drug') for at least 42 days prior to Visit 1. At the discretion of the Investigator, Medical Monitor, and Sponsor, the washout period for specific IMPs may be longer based on the pharmacological activity and pharmacokinetics of the drug.\n3. Patients with a physical or psychiatric condition which, at the Investigator's discretion and in consultation with the Medical Monitor and Sponsor (as applicable), may put the patient at risk, may confound the study results, or may interfere with the patient's participation in the clinical study, i.e. reliably perform study assessments.\n4. Known or persistent use, misuse, or dependency of medication, drugs, or alcohol.\n5. Current or planned pregnancy or women who are breastfeeding.\n6. Patients with severe vision or hearing impairment (that is not corrected by glasses or hearing aids) that, at the Investigator's discretion, interferes with their ability to perform study assessments.\n7. Patients who have been diagnosed with arthritis or other musculoskeletal disorders affecting joints, muscles, ligaments, and\u002For nerves that by themselves affect patient's mobility and, at the Investigator's discretion, interferes with their ability to perform study assessments.\n8. Patients at non-EU trial sites unwilling and\u002For not able to undergo a 42-day washout period from any of the following prohibited medication prior to Visit 1 (Baseline 1) and remain without prohibited medication through Visit 6.\n\n   1. N-Acetyl-DL-Leucine (e.g. Tanganil®);\n   2. N-Acetyl-L-Leucine (prohibited if not provided as IMP in the IB1001-304 trial);\n9. Patients at EU trial sites who have had any of the following prohibited medication 42-days prior to Visit 1 (Baseline 1) and unwilling and\u002For not able to remain without prohibited medication through Visit 6.\n\n   1. N-Acetyl-DL-Leucine (e.g. Tanganil®);\n   2. N-Acetyl-L-Leucine (prohibited if not provided as IMP in the IB1001-304 trial).\n\n      \\-","4 Years",{"count":80,"type":21},60,[82],"PHASE3","A pivotal, randomized, double-blind, placebo-controlled, multi-center therapeutic study for patients age 4 and older with a confirmed diagnosis of CACNA1A. The objective of this study is to evaluate the safety, tolerability and efficacy of N-acetyl-L-leucine (IB1001) compared to standard of care.",[85,28,86,87],"CACNA1A","Episodic Ataxia Type 2","Familial Hemiplegic Migraine-1",[85,86,28],"NOT_YET_RECRUITING","2026-06-03",{"date":92,"type":40},"2026-06-04",{"date":94,"type":21},"2026-09-01",{"date":96,"type":21},"2028-11-01",{"name":98,"class":99},"IntraBio Inc","INDUSTRY",10,{"id":102,"slug":103,"hasResults":11,"nctId":104,"briefTitle":105,"officialTitle":106,"acronym":4,"eligibilityCriteria":107,"healthyVolunteers":11,"sex":16,"minAge":108,"maxAge":109,"enrollmentInfo":110,"targetDuration":4,"studyType":22,"phases":112,"briefSummary":114,"conditions":115,"keywords":119,"overallStatus":89,"whyStopped":4,"lastUpdateSubmitDate":121,"lastUpdatePostDateStruct":122,"startDateStruct":124,"completionDateStruct":126,"leadSponsor":128,"locationsCount":4},"100314814","phase-2-umbilical-cord-mesenchymal-stem-cells-therapy-19isclife-sa-for-patients-with-spinocerebellar-ataxia-100314814","NCT03378414","Umbilical Cord Mesenchymal Stem Cells Therapy (19#iSCLife®-SA) for Patients With Spinocerebellar Ataxia","A Clinical Research on the Safety\u002FEfficacy of Umbilical Cord Mesenchymal Stem Cells Therapy for Patients With Spinocerebellar Ataxia","Inclusion Criteria:\n\n* Clinical and genomic test diagnoses as spinocerebellar ataxias (SCA) (include SCA 1, SCA 2, SCA 3, SCA 6), SARA (Scale for Assessment and Rating of Ataxia) score is 2-5, can complete 8-meter walking test（8MW）\n* Do not receive stem cells treatment in 6 months\n* Participants sign the consent form based on the experiment process and statement\n\nExclusion Criteria:\n\n* Cardiac, renal, hepatic insufficiency; total bilirubin is 1.5 times higher than normal value, aspartate transaminase（AST）or alanine aminotransferase（ALT）is 2.5 times higher than normal value\n* Hemogram: total white blood cells \\\u003C3.0 \\* 10\\^9 cells\u002FL, blood platelet \\\u003C75 \\* 10\\^9\u002FL, hemoglobin \\\u003C100g\u002FL\n* pneumonia, or severe infection\n* With severe allergic history\n* Brain organic disorder, like brain tumor\n* Serum with HIV, syphilis antibody positive\n* Severe mental disease, cognitive disorder patients\n* Other severe system or organ organic disease\n* Pregnant, breast feeding, or planning pregnant women\n* Participate other clinical experiments in 3 months\n* With some other conditions that doctor propose not to participate","16 Years","60 Years",{"count":111,"type":21},45,[113],"PHASE2","The purpose of this study is verify the safety and efficacy of Human Umbilical Cord Mesenchymal Stem Cells (UC-MSC) therapy for patients with Spinocerebellar Ataxia, and in addition, explore the possible mechanisms of UC-MSC therapy in Spinocerebellar Ataxia.",[116,117,118,28],"Spinocerebellar Ataxia Type 1","Spinocerebellar Ataxia Type 2","Spinocerebellar Ataxia Type 3",[120],"Spinocerebellar Ataxia,Mesenchymal Stem Cells","2026-04-22",{"date":123,"type":40},"2026-04-23",{"date":125,"type":21},"2026-12-31",{"date":127,"type":21},"2027-12-31",{"name":129,"class":99},"Sclnow Biotechnology Co., Ltd.",{"id":131,"slug":4,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":132,"targetDuration":4,"studyType":22,"phases":133,"briefSummary":25,"conditions":134,"keywords":135,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":136,"lastUpdatePostDateStruct":137,"startDateStruct":139,"completionDateStruct":141,"leadSponsor":142,"locationsCount":48},"100615117",{"count":20,"type":21},[24],[27,28],[30,31,32,28,33,34,35],"2026-03-16",{"date":138,"type":40},"2026-03-18",{"date":140,"type":21},"2026-03",{"date":44,"type":21},{"name":46,"class":47},{"id":144,"slug":145,"hasResults":11,"nctId":146,"briefTitle":147,"officialTitle":148,"acronym":149,"eligibilityCriteria":150,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":151,"targetDuration":153,"studyType":154,"phases":4,"briefSummary":155,"conditions":156,"keywords":496,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":539,"lastUpdatePostDateStruct":540,"startDateStruct":542,"completionDateStruct":544,"leadSponsor":546,"locationsCount":48},"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":152,"type":21},20000,"100 Years","OBSERVATIONAL","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.",[157,158,159,160,161,162,163,164,165,166,167,168,169,170,171,172,173,174,175,176,177,178,179,180,181,182,183,184,185,186,187,188,189,190,191,192,193,194,195,196,197,198,199,200,201,202,203,204,205,206,207,208,209,210,211,212,213,214,215,216,217,218,219,220,221,222,223,224,225,226,227,228,229,230,231,232,233,234,235,28,236,237,238,239,240,241,242,243,244,118,245,246,247,248,249,250,251,252,253,117,254,255,256,257,258,259,260,261,262,263,264,116,265,266,267,268,269,270,271,272,273,274,275,276,277,278,279,280,281,282,283,284,285,286,287,288,289,290,291,292,293,294,295,296,297,298,299,300,301,302,303,304,305,306,307,308,309,310,311,312,313,314,315,316,317,318,319,320,321,322,323,324,325,326,327,328,329,330,331,332,333,334,335,336,337,338,339,340,341,342,343,344,345,346,347,348,349,350,351,352,353,354,355,356,357,358,359,360,361,362,363,364,365,366,367,368,369,370,371,372,373,374,375,376,377,378,379,380,381,382,383,384,385,386,387,388,389,390,391,392,393,394,395,396,397,398,399,400,401,402,403,404,405,406,407,408,409,410,411,412,413,414,415,416,417,418,419,420,421,422,423,424,425,426,427,428,429,430,431,432,433,434,435,436,437,438,439,440,441,442,443,444,445,446,447,448,449,450,451,452,453,454,455,456,457,458,459,460,461,462,463,464,465,466,467,468,469,470,471,472,473,474,475,476,477,478,479,480,481,482,483,484,485,486,487,488,489,490,491,492,493,494,495],"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 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 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 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 - 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","NARP Syndrome","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","Leigh Syndrome","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 Diseases","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",[497,498,499,500,501,211,502,503,218,504,177,505,506,507,377,386,508,509,168,510,511,176,512,178,513,167,514,515,389,516,517,392,393,518,395,396,519,520,399,521,522,523,449,524,525,526,527,528,529,530,454,531,532,533,459,460,534,535,536,537,538],"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":541,"type":40},"2025-05-29",{"date":543,"type":40},"2010-07",{"date":545,"type":21},"2100-12",{"name":547,"class":47},"Sanford Health"]