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Results for “Rare Intellectual Disabilities”

51 trials

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Showing 20 of 51 results

Not applicableLooking for participantsNCT06615206
What this trial is testing

A First-in-Human Clinical Trial to Evaluate the Safety, Tolerability, and Efficacy of a Novel CRISPR RNA-editing Therapy in Patients with Mecp2 Duplication Syndrome, a Rare Orphan Disease (HERO)

Who this might be right for
MECP2 Duplication Syndrome
HuidaGene Therapeutics Co., Ltd. 6
Not applicableStudy completedNCT02706639
What this trial is testing

Williams Syndrome (WS) and Supravalvar Aortic Stenosis (SVAS) DNA and Tissue Bank

Who this might be right for
Williams SyndromeSupravalvular Aortic StenosisCardiovascular Disease
National Heart, Lung, and Blood Institute (NHLBI) 305
Not applicableStudy completedNCT03635294
What this trial is testing

Multi-Omics and IPSCs to Improve Diagnosis of Rare Intellectual Disabilities

Who this might be right for
Rare Intellectual Disabilities
University Hospital, Angers 7
Not applicableWithdrawnNCT03649919
What this trial is testing

Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children

Who this might be right for
XlsmaDMDX-ALD+1 more
Children's Hospital of Fudan University
Not applicableStudy completedNCT00004773
What this trial is testing

Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome

Who this might be right for
Rett Syndrome
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 95
Very early researchEnded earlyNCT06860672
What this trial is testing

Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation

Who this might be right for
Developmental Delay DisorderIntellectual DisabilityRare Diseases
Yongguo Yu 1
Not applicableEnded earlyNCT00004442
What this trial is testing

Study of Bile Acids in Patients With Peroxisomal Disorders

Who this might be right for
Infantile Refsum's DiseaseZellweger SyndromeBifunctional Enzyme Deficiency+1 more
University of Cincinnati 25
Not applicableLooking for participantsNCT06795152
What this trial is testing

Rare Glycogen Storage Diseases Natural History Study

Who this might be right for
Glycogen Storage DiseaseGSD Type 0AGSD Type 0B+12 more
Duke University 200
Not applicableLooking for participantsNCT06573723
What this trial is testing

Institutional Registry of Rare Diseases

Who this might be right for
Rare DiseasesAmyloidosisSarcoidosis+23 more
Hospital Italiano de Buenos Aires 380
Not applicableLooking for participantsNCT01087320
What this trial is testing

Genome Medical Sequencing for Gene Discovery

Who this might be right for
Intellectual DisabilitiesCongenital AnomalyRare Disorders
National Human Genome Research Institute (NHGRI) 2,000
Not applicableLooking for participantsNCT04463316
What this trial is testing

GROWing Up With Rare GENEtic Syndromes

Who this might be right for
Prader-Willi SyndromePWS-like SyndromeSilver Russel Syndrome+30 more
dr. Laura C. G. de Graaff-Herder 600
Not applicableStudy completedNCT03077308
What this trial is testing

Rare Diseases Clinical Research Network: Neurophysiological Correlates

Who this might be right for
Rett Syndrome, Preserved Speech VariantMecp2 Duplication SyndromeRett-related Disorders
University of Alabama at Birmingham 185
Not applicableLooking for participantsNCT06871696
What this trial is testing

Genetic of Intellectual Deficiency and Autism Spectrum Disorders (RaDiCo-GenIDA)

Who this might be right for
Genetic of Intellectual DeficiencyAutism Spectrum Disorder
Institut National de la Santé Et de la Recherche Médicale, France 1,000
Testing effectiveness (Phase 2)Ended earlyNCT00004418
What this trial is testing

Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy

Who this might be right for
Adrenoleukodystrophy
Hugo W. Moser Research Institute at Kennedy Krieger, Inc. 126
Not applicableLooking for participantsNCT03056794
What this trial is testing

Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies

Who this might be right for
Pyruvate Dehydrogenase Complex Deficiency Disease
University of Pittsburgh 150
Not applicableStudy completedNCT01938014
What this trial is testing

Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children

Who this might be right for
Mucopolysaccharidosis Type I (MPS I)Mucopolysaccharidosis Type II (MPS II)Mucopolysaccharidosis Type III (MPS III)+2 more
University of Chicago 19
Testing effectiveness (Phase 2)Temporarily pausedNCT00004300
What this trial is testing

Phase II Study of Stereotypes and Mental Retardation: Neurobiological Basis

Who this might be right for
Stereotyped BehaviorMental Retardation
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 40
Not applicableEnrolling By InvitationNCT06938542
What this trial is testing

Palliative Care Needs of Children With Rare Diseases and Their Families

Who this might be right for
Trisomy 13 SyndromeArthrogryposis Congenita Multiplex With Intestinal AtresiaAsparagine Synthetase Deficiency+16 more
Children's National Research Institute 480
Not applicableStudy completedNCT06957054
What this trial is testing

Neural Biomarkers in Fragile X Syndrome

Who this might be right for
Fragile X Syndrome (FXS)Neurotypical Adults
Connecta Therapeutics, S.L. 20
Not applicableUnknownNCT05696912
What this trial is testing

Functional Tests to Resolve Unsolved Rare Diseases. Rares.

Who this might be right for
Intellectual DisabilityRubinstein-Taybi SyndromeCystic Fibrosis+4 more
University Hospital, Bordeaux 50
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