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Results for “Genetic of Intellectual Deficiency”

41 trials

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Showing 20 of 41 results

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
Not applicableStudy completedNCT02738281
What this trial is testing

Natural History of Rett Syndrome & Related Disorders

Who this might be right for
Rett SyndromeMECP2 Duplication dIsorderCDKL5 Disorder+1 more
University of Alabama at Birmingham 1,044
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
Not applicableStudy completedNCT05098600
What this trial is testing

The Epidemiology, Management and Comorbidities in Alopecia Areata in Czech Republic

Who this might be right for
Alopecia AreataAlopecia TotalisAlopecia Universalis+24 more
Faculty Hospital Kralovske Vinohrady 123
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 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)
Early research (Phase 1)Looking for participantsNCT06340685
What this trial is testing

Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency

Who this might be right for
Pyruvate Dehydrogenase Complex Deficiency
Jirair Krikor Bedoyan 6
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 applicableStudy completedNCT05687474
What this trial is testing

Baby Detect : Genomic Newborn Screening

Who this might be right for
Congenital Adrenal HyperplasiaFamilial Hyperinsulinemic Hypoglycemia 1Phosphoglucomutase 1 Deficiency+121 more
Centre Hospitalier Universitaire de Liege 6,824
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 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 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
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
Early research (Phase 1)Study completedNCT00744692
What this trial is testing

Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders

Who this might be right for
Non Malignant DisordersImmunodeficienciesCongenital Marrow Failures+5 more
Duke University 22
Testing effectiveness (Phase 2)Study completedNCT03734263
What this trial is testing

Use of Phenylbutyrate Therapy for Patients With Pyruvate Dehydrogenase Complex Deficiency.

Who this might be right for
Pyruvate Dehydrogenase Complex Deficiency
Fondazione Telethon 1
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
Early research (Phase 1)Study completedNCT00692926
What this trial is testing

Unrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood Cells

Who this might be right for
MDSAnemia, AplasticInborn Errors of Metabolism+2 more
Joanne Kurtzberg, MD 37
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
Not applicableLooking for participantsNCT03047369
What this trial is testing

The Myelin Disorders Biorepository Project

Who this might be right for
LeukodystrophyWhite Matter DiseaseLeukoencephalopathies+63 more
Children's Hospital of Philadelphia 12,000
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