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Results for “Rare Intellectual Disabilities”

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Showing 20 of 0 results

Not applicableUnknownNCT00005900
What this trial is testing

Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation

Who this might be right for
I Cell DiseaseFucosidosisGloboid Cell Leukodystrophy+9 more
Fairview University Medical Center 10
Not applicableStudy completedNCT02670694
What this trial is testing

Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW

Who this might be right for
Rett SyndromePrader-Willi SyndromeAngelman Syndrome+1 more
Baylor College of Medicine 804
Not applicableUnknownNCT04646850
What this trial is testing

Long-term Treatment With the Ketogenic Diet in Epilepsy

Who this might be right for
EpilepsyGLUT1DS1PDH Deficiency
Oslo University Hospital 30
Not applicableEnrolling By InvitationNCT05368038
What this trial is testing

ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program

Who this might be right for
Acid Sphingomyelinase DeficiencyCeroid Lipofuscinosis, Neuronal, 2Cerebrotendinous Xanthomatosis+11 more
Albert Einstein College of Medicine 100,000
Not applicableLooking for participantsNCT07336394
What this trial is testing

Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques

Who this might be right for
Danon DiseaseFabry DiseaseCardiac Amyloidosis+4 more
Chinese Academy of Medical Sciences, Fuwai Hospital 1,000
Not applicableLooking for participantsNCT04880356
What this trial is testing

Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.

Who this might be right for
Inherited DiseaseRare DiseasesMetabolic Disease+3 more
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta 100
Not applicableLooking for participantsNCT01793168
What this trial is testing

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

Who this might be right for
Rare DisordersUndiagnosed DisordersDisorders of Unknown Prevalence+340 more
Sanford Health 20,000
Not applicableUnknownNCT04979182
What this trial is testing

Clinical Characterization of Frequent Monogenic Forms of Neurodevelopmental Disorders

Who this might be right for
Neurodevelopmental Disorders
University Hospital, Strasbourg, France 30
Not applicableStudy completedNCT04154891
What this trial is testing

Genome Sequencing Strategies for Genetics Diagnosis of Patients With Intellectual Disability

Who this might be right for
Intellectual Disability
Institut National de la Santé Et de la Recherche Médicale, France 3,825
Not applicableStudy completedNCT00004807
What this trial is testing

Study of the Pathogenesis of Rett Syndrome

Who this might be right for
Rett Syndrome
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 120
Not applicableActive Not RecruitingNCT03655223
What this trial is testing

Early Check: Expanded Screening in Newborns

Who this might be right for
Spinal Muscular AtrophyFragile X SyndromeFragile X - Premutation+182 more
RTI International 30,000
Not applicableEnrolling By InvitationNCT03836300
What this trial is testing

Parent and Infant Inter(X)Action Intervention (PIXI)

Who this might be right for
Fragile X SyndromeAngelman SyndromePrader-Willi Syndrome+11 more
RTI International 120
Not applicableLooking for participantsNCT06868979
What this trial is testing

Optical Imaging in X-linked Disorders.

Who this might be right for
Fragile X Syndrome (FXS)Creatine Transporter Deficiency
Hospices Civils de Lyon 118
Not applicableStudy completedNCT00004656
What this trial is testing

Nutritional Aspects of Rett Syndrome

Who this might be right for
Rett Syndrome
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Not applicableStudy completedNCT07051213
What this trial is testing

The Belgian Genome Resource to Resolve Rare Diseases

Who this might be right for
Intellectual Developmental DisorderMalformationsDysmorphia+1 more
Universitaire Ziekenhuizen KU Leuven 567
Not applicableEnded earlyNCT04628871
What this trial is testing

Long Term Follow-up (LTFU) of Subjects Who Received SB-318, SB-913, or SB-FIX

Who this might be right for
Hemophilia BMucopolysaccharidosis IMucopolysaccharidosis II
Sangamo Therapeutics 13
Testing effectiveness (Phase 2)Study completedNCT00004454
What this trial is testing

Phase I/II Study of Retroviral-Mediated Transfer of Iduronate-2-Sulfatase Gene Into Lymphocytes of Patients With Mucopolysaccharidosis II (Mild Hunter Syndrome)

Who this might be right for
Mucopolysaccharidosis II
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 2
Not applicableStudy completedNCT00004351
What this trial is testing

Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes

Who this might be right for
Williams SyndromeAngelman SyndromePrader-Willi Syndrome+4 more
National Institute of Neurological Disorders and Stroke (NINDS) 20
Not applicableStudy completedNCT00004450
What this trial is testing

Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy

Who this might be right for
Adrenoleukodystrophy
FDA Office of Orphan Products Development 60
Not applicableUnknownNCT03424772
What this trial is testing

Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China

Who this might be right for
Intellectual DisabilityMultiple Congenital AnomalyRare Diseases
Xinhua Hospital, Shanghai Jiao Tong University School of Medicine 100
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