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Results for “Genetic of Intellectual Deficiency”

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Showing 20 of 0 results

Not applicableStudy completedNCT01931644
What this trial is testing

At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions

Who this might be right for
All Diagnosed Health ConditionsADD/ADHDAlopecia Areata+58 more
Sanguine Biosciences 17,667
Not applicableUnknownNCT05257005
What this trial is testing

Natural History Study of Pyruvate Dehydrogenase Deficiency

Who this might be right for
Pyruvate Dehydrogenase Complex DeficiencyPyruvate Dehydrogenase E1 Alpha DeficiencyPyruvate Dehydrogenase E1-Beta Deficiency+2 more
Great Ormond Street Hospital for Children NHS Foundation Trust 50
Not applicableStudy completedNCT02167568
What this trial is testing

Corpus Callosum Agenesis and Intellectual Disability

Who this might be right for
Intellectual DeficiencyCerebral Abnormality
Assistance Publique - Hôpitaux de Paris 360
Testing effectiveness (Phase 2)Looking for participantsNCT06887777
What this trial is testing

Efficacy and Safety of the Treatment of Pyruvate Dehydrogenase Deficiency Patients With Glycerol Phenylbutyrate (RAVICTI)

Who this might be right for
Pyruvate Dehydrogenase Complex Deficiency Disease
Assistance Publique - Hôpitaux de Paris 15
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 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 completedNCT01449240
What this trial is testing

Collection and Study of Cerebrospinal Fluid in Patients With Hunter Syndrome

Who this might be right for
Hunter Syndrome
Shire 10
Not applicableLooking for participantsNCT06213090
What this trial is testing

Patterns of Neurodevelopmental Disorders

Who this might be right for
Neurodevelopmental DisordersAutism Spectrum DisorderPediatric Autoimmune Neuropsychiatric Disorder Associated With Streptococcal Infection+5 more
Richard Frye 1,000
Not applicableActive Not RecruitingNCT06139172
What this trial is testing

Web Intervention for Parents of Youth With Genetic Syndromes (WINGS)

Who this might be right for
Telomeric 22Q13 Monosomy SyndromeTuberous SclerosisHamartoma Syndrome, Multiple+5 more
Rush University Medical Center 79
Testing effectiveness (Phase 2)Study completedNCT03513328
What this trial is testing

Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation

Who this might be right for
Bone Marrow Failure SyndromeThalassemiaSickle Cell Disease+13 more
University of Florida 6
Large-scale testing (Phase 3)Ended earlyNCT00654433
What this trial is testing

ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases

Who this might be right for
Inherited Metabolic DiseasesLysosomal Storage DisordersPeroxisomal Storage Diseases+2 more
Aldagen 40
Not applicableStudy completedNCT03847753
What this trial is testing

Exploring the Comorbidity Between Mental Disorders and General Medical Conditions

Who this might be right for
Organic, Including Symptomatic, Mental DisordersSubstance UseSchizophrenia+38 more
University of Aarhus 5,940,299
Not applicableLooking for participantsNCT06092346
What this trial is testing

A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders

Who this might be right for
AMPD3, OMIM*102772, AMP Deaminase DeficiencyAK1, OMIM *103000, Adenylate Kinase DeficiencyAMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency+25 more
National Human Genome Research Institute (NHGRI)
Not applicableLooking for participantsNCT04528355
What this trial is testing

Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC

Who this might be right for
Primary Immunodeficiency (PID)Congenital Bone Marrow Failure SyndromesInherited Metabolic Disorders (IMD)+2 more
Paul Szabolcs 50
Not applicableStudy completedNCT02699190
What this trial is testing

LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies

Who this might be right for
LeukodystrophyWhite Matter Disease4H Syndrome+61 more
Children's Hospital of Philadelphia 236
Not applicableLooking for participantsNCT01403402
What this trial is testing

Congenital Muscle Disease Study of Patient and Family Reported Medical Information

Who this might be right for
Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) DeficiencyAlpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy)Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations)+49 more
Cure CMD
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 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
Large-scale testing (Phase 3)Study completedNCT00811785
What this trial is testing

Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency

Who this might be right for
Menkes DiseaseOccipital Horn SyndromeUnexplained Copper Deficiency
Cyprium Therapeutics, Inc. 93
Large-scale testing (Phase 3)Active Not RecruitingNCT02616484
What this trial is testing

Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency:

Who this might be right for
Pyruvate Dehydrogenase Complex Deficiency
Saol Therapeutics Inc 34
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