[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"allan-herndon-dudley-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:allan-herndon-dudley-syndrome":21},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,37,136,173],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":4,"targetDuration":4,"studyType":17,"phases":4,"briefSummary":18,"conditions":19,"keywords":22,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":29,"lastUpdatePostDateStruct":30,"startDateStruct":4,"completionDateStruct":4,"leadSponsor":33,"locationsCount":36},"100509282","expanded-access-program-for-tiratricol-in-patients-with-monocarboxylate-transporter-8-deficiency-100509282",false,"NCT05911399","Expanded Access Program for Tiratricol in Patients With Monocarboxylate Transporter 8 Deficiency","Expanded Access Program for Tiratricol in Patients With Monocarboxylate Transporter 8 Deficiency Also Known as Allan-Herndon-Dudley Syndrome (AHDS)","Inclusion Criteria:\n\nEach patient must meet all of the following criteria to be eligible:\n\n1. Diagnosis of MCT8 deficiency confirmed with a genetic test.\n2. Either tiratricol treatment naïve, or patients who may be on a stable dose of tiratricol having transferred from the Phase 3 MCT8-2021-3 (ReTRIACt) study (NCT05579327) or prior individual investigational new drug (IND).\n3. In the Treating Physician's medical opinion, the potential benefits of treatment with tiratricol outweigh the potential risks for the patient.\n4. Patient or legal representative provided signed and dated informed consent to be treated with tiratricol, through this EAP.\n5. Given the severity of the disease, sexual activity in these patients is deemed unlikely. However, where, at the discretion of the Treating Physician sexual activity is possible for the patient, patients must follow protocol-specified-contraception guidance.\n6. Patient is approved for enrolment by the sponsor RTT.\n\nExclusion Criteria:\n\nPatients who meet any of the following criteria will be excluded from the EAP:\n\n1. Parents, legal representative or, if applicable, patients unwilling or unable to comply with the Treating Physician's treatment plan related to this EAP for any reason.\n2. Major illness or recent major surgery unrelated to MCT8 deficiency (in the Treating Physician's judgement), defined as:\n\n   * Conditions requiring repeated hospitalizations that are likely to confound ability to participate in the program.\n   * Major illness in the 3 months before the screening visit that is likely to confound the ability of the patient to participate fully within the program and\u002For confound the assessment of serum total T3 and\u002For safety.\n   * Major surgery within the 3 months before the screening visit, or planned to take place during the program, including but not limited to major abdominal\u002Fthoracic\u002Fneurosurgical procedures.\n   * Major\u002Fminor abdominal and\u002For maxillofacial surgery that may inhibit the administration and\u002For absorption of tiratricol.\n3. Patients with any contra-indication for treatment with tiratricol or any excipients in the program treatment.\n4. Patients using thyroid hormone analogues- such as levothyroxine -or thionamides, such as propylthiouracil. Prior use of these drugs is not an exclusion criterion, provided the use of the medication has subsided and the thyroid hormone levels have stabilized after the cessation of these medications. For patients currently using these medications the switch to tiratricol should be made following the above and under the guidance of an endocrinologist with knowledge of MCT8 deficiency, if needed, after consultation with pharmacologist.\n5. Known hypersensitivity to tiratricol including any ingredient in the pharmaceutical formulation.\n6. Although very unlikely, as this is a severe X-linked disease: Women who are nursing or pregnant (or women who are planning to become pregnant during treatment with tiratricol).\n7. Patients eligible for clinical trials with tiratricol.","ALL","EXPANDED_ACCESS","The goal of this program is to provide expanded access (i.e., before marketing authorization) to tiratricol as treatment for patients with monocarboxylate transporter 8 deficiency (MCT8 deficiency, also known as Allan-Herndon-Dudley syndrome \\[AHDS\\]), who in their Treating Physician's opinion, could benefit from tiratricol and meet the eligibility criteria.",[20,21],"Monocarboxylate Transporter 8 Deficiency","Allan-Herndon-Dudley Syndrome",[23,24,25,26,27],"MCT8 Deficiency","Allan-Herndon-Dudley syndrome","Tiratricol","Triac","Expanded Access Program","AVAILABLE","2026-04-29",{"date":31,"type":32},"2026-05-05","ACTUAL",{"name":34,"class":35},"Rare Thyroid Therapeutics International AB","INDUSTRY",17,{"id":38,"slug":39,"hasResults":11,"nctId":40,"briefTitle":41,"officialTitle":42,"acronym":43,"eligibilityCriteria":44,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":45,"targetDuration":48,"studyType":49,"phases":4,"briefSummary":50,"conditions":51,"keywords":117,"overallStatus":124,"whyStopped":4,"lastUpdateSubmitDate":125,"lastUpdatePostDateStruct":126,"startDateStruct":128,"completionDateStruct":130,"leadSponsor":132,"locationsCount":135},"100289408","the-myelin-disorders-biorepository-project-100289408","NCT03047369","The Myelin Disorders Biorepository Project","The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network","MDBP","Inclusion Criteria (Affected Subjects):\n\n* Male or female of any age;\n* Suspected or confirmed diagnosis of leukodystrophy or other disorder affecting the white matter of the brain based primarily on the finding of central nervous system neuroimaging consistent with this diagnosis or on an existing diagnosis of a leukodystrophy or genetic leukoencephalopathy as defined in existing classification systems, or in the presence of variant(s) of uncertain significance or genotype consistent with leukodytrophy;\n* Documentation of informed consent by the subject, parent, or legal guardian, and, if appropriate, documentation of assent;\n* Willingness to provide clinical data, participate in standardized assessments, and\u002For provide biologic samples.\n\nExclusion Criteria (Affected Subjects)\n\n* Established diagnosis at the time of referral that is not consistent with a genetic disorder of the white matter, such as an acquired demyelinating condition (e.g. multiple sclerosis), or an infectious etiology, with the exception of sequelae of congenital infections such as CMV;\n* Inability to provide consent.\n\nInclusion Criteria (Healthy Controls)\n\n* Male or female of any age;\n* Individuals with no confirmed or suspected diagnosis of leukodystrophy or other disorder affecting the white matter of the brain (including affected patients' caregivers);\n* Documentation of informed consent by the subject, parent, or legal guardian, and, if appropriate, documentation of assent.\n\nExclusion Criteria (Healthy Controls)\n\n\\- Inability to provide consent.",{"count":46,"type":47},12000,"ESTIMATED","10 Years","OBSERVATIONAL","The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago.\n\nResearchers working in the biorepository hope to use these materials to uncover new genetic etiologies for various leukodystrophies, develop biomarkers for use in future clinical trials, and better understand the natural history of these disorders. The knowledge gained from these efforts may help improve the diagnostic tools and treatment options available to patients in the future.",[52,53,54,55,56,57,58,59,60,61,62,63,64,65,66,67,68,69,70,71,72,73,74,75,76,77,78,79,80,81,82,83,84,85,86,87,88,89,90,91,92,93,94,95,96,97,98,99,100,101,102,103,104,105,106,21,107,108,109,110,111,112,113,114,115,116],"Leukodystrophy","White Matter Disease","Leukoencephalopathies","4H Syndrome","Adrenoleukodystrophy","AMN","ALD","ALD Gene Mutation","ALD (Adrenoleukodystrophy)","X-linked Adrenoleukodystrophy","X-ALD","Adrenomyeloneuropathy","Aicardi Goutieres Syndrome","AGS","Alexander Disease","Alexanders Leukodystrophy","AxD","ADLD","Canavan Disease","CTX","Cerebrotendinous Xanthomatoses","Krabbe Disease","GALC Deficiency","Globoid Leukodystrophy","TUBB4A-Related Leukodystrophy","H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum","HBSL","HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity","LBSL","Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder)","Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation","ALSP","CSF1R Gene Mutation","HCC - Hypomyelination and Congenital Cataract","MLC1","Megalencephalic Leukoencephalopathy With Subcortical Cysts","MLD","Metachromatic Leukodystrophy","PMD","Pelizaeus-Merzbacher Disease","PLP1 Null Syndrome","PLP1 Gene Duplication | Blood or Tissue | Mutations","Pelizaeus Merzbacher Like Disease","Peroxisomal Biogenesis Disorder","Zellweger Syndrome","Refsum Disease","Salla Disease","Sialic Storage Disease","Sjögren","Sjogren-Larsson Syndrome","Van Der Knapp Disease","Vanishing White Matter Disease","Charcot-Marie-Tooth","CMT","Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency","Cadasil","Cockayne Syndrome","Multiple Sulfatase Deficiency","Gangliosidoses","GM2 Gangliosidosis","BPAN","Labrune Syndrome","LCC","Mucopolysaccharidoses","TBCK-Related Intellectual Disability Syndrome",[118,119,120,121,122,123],"leukodystrophy","white matter disease","leukoencephalopathy","myelin","demyelinating","mdbp","RECRUITING","2025-10-22",{"date":127,"type":32},"2025-10-23",{"date":129,"type":32},"2016-12-08",{"date":131,"type":47},"2030-12-08",{"name":133,"class":134},"Children's Hospital of Philadelphia","OTHER",23,{"id":137,"slug":138,"hasResults":11,"nctId":139,"briefTitle":140,"officialTitle":141,"acronym":142,"eligibilityCriteria":143,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":144,"targetDuration":146,"studyType":49,"phases":4,"briefSummary":147,"conditions":148,"keywords":156,"overallStatus":124,"whyStopped":4,"lastUpdateSubmitDate":163,"lastUpdatePostDateStruct":164,"startDateStruct":166,"completionDateStruct":168,"leadSponsor":170,"locationsCount":172},"100559587","register-for-patients-with-thyroid-hormone-resistance-100559587","NCT06566066","Register for Patients With Thyroid Hormone Resistance.","Deep Geno- and Phenotyping of Patients With Thyroid Hormone Resistance, a Register Study.","DEEPTYPE","Inclusion Criteria:\n\n* Presence of a coding or non-coding mutation in SLC16A2\n* Presence of a coding or non-coding mutation in THRA\n* Abnormal fT3\u002FfT4 ratio in the serum\n* Written informed consent of the caregivers for participation in the register study\n\nExclusion Criteria:\n\n* Withdrawal of consent\n* Correction\u002Fchange of the molecular diagnosis",{"count":145,"type":47},200,"5 Years","Thyroid hormones (TH) play a pivotal role in the development and function of the mammalian brain. Patients with impaired thyroid hormone transport into the brain tissue or in the case of defective local thyroid hormone receptor (collectively referred to as thyroid hormone resistance) subsequently experience psychomotor disabilities.\n\nThe \"DEEPTYPE\" registry has been established with the objective of intensifying the genotyping and, in particular, the neurological phenotyping of patients exhibiting deficiencies in either the thyroid hormone transporter (MCT8) or the thyroid hormone receptor alpha (THRα). The objective of this registry-based study is to enhance the diagnostic yield for MCT8 and THRα deficiencies by employing the serum fT3\u002FfT4 ratio as a more sophisticated screening parameter. Furthermore, the investigators will study the genomic regulation of both genes and attempt to identify further coding and non-coding mutations that result in TH resistance. The patient registry \"DEEPTYPE\" will document the retrospective and prospective clinical data of identified children in a comprehensive manner. This will enable the identification of three key groups: (i) patients with non-coding mutations, (ii) patients with milder phenotypes presenting only with a subset of symptoms seen in both \"classic\" conditions, and (iii) patients who are ready for clinical trials.",[149,150,151,152,153,154,21,155],"Hypothyroidism","Global Developmental Delay","Intellectual Disability","Dystonia","Muscle Hypotonia","Seizures","Microcephalus",[157,158,159,160,161,162],"Thyroid hormone","Thyroid hormone resistance","MCT8","SLC16A2","THRA deficiency","Myelination","2024-08-20",{"date":165,"type":32},"2024-08-22",{"date":167,"type":32},"2021-07-01",{"date":169,"type":47},"2029-07-31",{"name":171,"class":134},"Charite University, Berlin, Germany",1,{"id":174,"slug":175,"hasResults":11,"nctId":176,"briefTitle":177,"officialTitle":178,"acronym":179,"eligibilityCriteria":180,"healthyVolunteers":11,"sex":16,"minAge":181,"maxAge":4,"enrollmentInfo":182,"targetDuration":4,"studyType":49,"phases":4,"briefSummary":184,"conditions":185,"keywords":4,"overallStatus":124,"whyStopped":4,"lastUpdateSubmitDate":218,"lastUpdatePostDateStruct":219,"startDateStruct":221,"completionDateStruct":223,"leadSponsor":225,"locationsCount":172},"100398068","growing-up-with-rare-genetic-syndromes-100398068","NCT04463316","GROWing Up With Rare GENEtic Syndromes","GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age","GROW UR GENES","Inclusion Criteria:\n\n* Patients with rare syndromes or rare congenital diseases visiting the multidisciplinary outpatient clinic for patients with rare diseases at the department of endocrinology, internal medicine, Erasmus Medical Center.\n\nExclusion Criteria:\n\n* None","18 Years",{"count":183,"type":47},600,"Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists.\n\nIncreased life expectancy Although many genetic syndromes used to cause premature death, improvement of medical care has improved life expectancy. More and more patients are now reaching adult age, and the complexity of the syndrome persists into adulthood. However, until recently, multidisciplinary care was not available for adults with rare genetic syndromes. Ideally, active and well-coordinated health management is provided to prevent, detect, and treat comorbidities that are part of the syndrome. However, after transition from pediatric to adult medical care, patients and their parents often report fragmented poor quality care instead of adequate and integrated health management. Therefore, pediatricians express the urgent need for adequate, multidisciplinary adult follow up of their pediatric patients with rare genetic syndromes.\n\nMedical guidelines for adults not exist and the literature on health problems in these adults is scarce. Although there is a clear explanation for the absence of adult guidelines (i.e. the fact that in the past patients with rare genetic syndromes often died before reaching adult age), there is an urgent need for an overview of medical issues at adult age, for 'best practice' and, if possible, for medical guidelines.\n\nThe aim of this study is to get an overview of medical needs of adults with rare genetic syndromes, including:\n\n1. comorbidities\n2. medical and their impact on quality of life\n3. medication use\n4. the need for adaption of medication dose according to each syndrome\n\nMethods and Results This is a retrospective file study. Analysis will be performed using SPSS version 23 and R version 3.6.0.",[186,187,188,189,190,191,192,193,194,195,196,197,198,199,200,201,202,203,204,205,206,207,208,209,210,211,212,213,21,214,215,216,217],"Prader-Willi Syndrome","PWS-like Syndrome","Silver Russel Syndrome","Congenital Hypopituitarism","Klinefelter (XXY-)Syndrome","Congenital Adrenal Hyperplasia","XXXXY Syndrome","XXYY Syndrome","XXXX Syndrome (Tetra-X Syndrome)","Disorders of Sex Development","Turner Syndrome","46, XY DSD","Tuberous Sclerosis","Neurofibromatosis","Albright Hereditaire Osteodystrofie","Cornelia de Lange Syndrome","Saethre-Chotzen Syndrome","17p- Deletiesyndrome","VCF Syndrome","POLR3A Mutatie","Ohdo Syndrome","Jacobsen Syndrome \u002F 11 q Syndrome","Myrhe Syndrome","CHARGE Syndrome","1q25-32 Deletie","Bardet Biedl Syndrome","Rett Syndrome","22q11 Deletion Syndrome","Kallmann Syndrome","Rare Bone Disorders","Noonan Syndrome","Williams-Beuren Syndrome","2023-09-04",{"date":220,"type":32},"2023-09-06",{"date":222,"type":32},"2018-10-01",{"date":224,"type":47},"2030-01-01",{"name":226,"class":134},"dr. Laura C. G. de Graaff-Herder"]