Clinical trials: Intellectual Deficiency
Leukodystrophy, White Matter Disease
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Leukodystrophies, and other heritable disorders of the white matter of the brain, were previously resistant to genetic characterization, largely due to the extreme genetic heterogeneity of molecular causes.
- Conditions
- Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy
- Trial name
- NCT02699190
- Where
- United States
- Volunteers
- 236 people
- Sponsor
- Children's Hospital of Philadelphia
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Alopecia Areata, Alopecia Totalis
The Epidemiology, Management and Comorbidities in Alopecia Areata in Czech Republic
The study series consists of three studies with the aim to assess the incidence, prevalence, risk factors, comorbidities and management of patients with alopecia areata in Czech Republic based on the patients and registry of a…
- Conditions
- Alopecia Areata, Alopecia Totalis, Alopecia Universalis, Alopecia Areata (& Ophiasis)
- Trial name
- NCT05098600
- Testing
- Exposure of interest
- Where
- Czechia
- Volunteers
- 123 people
- Sponsor
- Faculty Hospital Kralovske Vinohrady
Adrenoleukodystrophy, Batten Disease
UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
The primary objective of the study is to determine the safety and feasibility of intrathecal administration of DUOC-01 in patients who are undergoing standard treatment with umbilical cord blood transplant (UCBT) for inborn…
- Conditions
- Adrenoleukodystrophy, Batten Disease, Mucopolysaccharidosis II, Leukodystrophy, Globoid Cell
- Trial name
- DUOC-01 (NCT02254863)
- Testing
- DUOC-01
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Joanne Kurtzberg, MD
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes
Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC
This is a data collection study that will examine the general diagnostic and treatment data associated with the reduced-intensity chemotherapy-based regimen paired with simple alemtuzumab dosing strata designed to prevented graft…
- Conditions
- Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias
- Trial name
- PRO-RIC (NCT04528355)
- Testing
- data collection
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Paul Szabolcs
Mucopolysaccharidosis II
Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II)
The purpose of this study is to determine whether the administration of iduronate-2-sulfatase enzyme in a weekly or every other week therapy frequency is safe and efficacious in patients with MPS II.
- Trial name
- NCT00069641
- Testing
- Iduronate-2-sulfatase enzyme replacement therapy
- Where
- 9 sites in United States, Brazil and 2 more
- Volunteers
- 96 people
- Sponsor
- Shire
Pyruvate Dehydrogenase Complex Deficiency Disease
Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies
Children and adults with pyruvate dehydrogenase complex deficiency (PDCD) are participating in a research study seeking to better understand the genetic causes, symptoms, usefulness of current treatments, and outcomes for these…
- Trial name
- NCT03056794
- Testing
- No intervention
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- University of Pittsburgh
Prader-Willi Syndrome, Growth Hormone Deficiency
Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome?
The purpose of this study is to estimate the sensibility at the growth hormone in vivo at the children presenting a Prader-Willi syndrome (SPW) in comparison with children presenting a deficit in growth hormone (GHD).
- Trial name
- NCT01298180
- Testing
- Growth hormone (Genotonorm® or Omnitrope®), DEXA, blood tests, H.G.P.O, osseous age., biopsy
- Where
- 26 sites in France
- Volunteers
- 111 people
- Sponsor
- University Hospital, Toulouse
Creatine Deficiency, X-linked
Observational Study of Males With Creatine Transporter Deficiency
The objectives of this study are to illustrate the clinical, neuro/electrophysiologic, biochemical, and developmental status and progression of patients with Creatine Transporter Deficiency (CTD) and to evaluate the utility of…
- Trial name
- Vigilan (NCT02931682)
- Where
- 10 sites in United States, Canada
- Volunteers
- 50 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Epilepsy, GLUT1DS1
Long-term Treatment With the Ketogenic Diet in Epilepsy
This study will provide a comprehensive assessment of long-term treatment with the ketogenic diet, a medical diet with high fat and low carbohydrate intake, focusing on safety and cardiovascular implications.
- Conditions
- Epilepsy, GLUT1DS1, PDH Deficiency
- Trial name
- NCT04646850
- Testing
- Color duplex ultrasound of the carotid arteries
- Where
- Norway
- Volunteers
- 30 people
- Sponsor
- Oslo University Hospital
Mental Retardation, Body Composition, Beneficial
Resistance Training Program, Labor Inclusion, Intellectual Disability
Resistance exercise (RE) has been proposed as a possible strategy for prevention and rehabilitation of diseases. The increase in both muscle strength and the ability to perform tasks of day-to-day work environment and are…
- Conditions
- Mental Retardation, Body Composition, Beneficial, Muscle Weakness
- Trial name
- NCT01456910
- Testing
- Resistance Training Program
- Where
- 2 sites in Brazil
- Volunteers
- 40 people
- Sponsor
- University of Brasilia
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Mental Retardation
"Cognitus & Moi": a New Cognitive Remediation Tool
Holders children with intellectual disabilities have great difficulty in adapting to social situations and relationships.Cognitive impairment associated with intellectual disability are important factors to understand their…
- Trial name
- COGNITUS (NCT02797418)
- Testing
- Cognitive remediation program
- Where
- France
- Volunteers
- 18 people
- Sponsor
- Hôpital le Vinatier
Fragile X Syndrome (FXS), Creatine Transporter Deficiency
Optical Imaging in X-linked Disorders.
Fragile X syndrome (FXS, OMIM #300624) and Creatine Transporter Deficiency (CTD, #300352) are the two most common causes of X-linked intellectual disability.
- Trial name
- IMAGINER (NCT06868979)
- Testing
- Clinical assessment, Parental questionnaires, Cognitive assessment
- Where
- France
- Volunteers
- 118 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Leukodystrophy, White Matter Disease
The Myelin Disorders Biorepository Project
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.
- Conditions
- Leukodystrophy, White Matter Disease, Leukoencephalopathies, 4H Syndrome
- Trial name
- MDBP (NCT03047369)
- Where
- 23 sites in United States
- Volunteers
- 12,000 people
- Sponsor
- Children's Hospital of Philadelphia
Down Syndrome
Natural History of Dysregulation and Aging of the Immune System in People With Trisomy 21 With and Without Thymectomy
Background: Down syndrome is a genetic disorder that can cause heart defects and other problems in the body. People with Down syndrome are more likely to have infections, autoimmunity, and blood diseases.
- Trial name
- NCT07416201
- Where
- United States
- Volunteers
- 700 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Mucopolysaccharidosis Disorders, Hurler Syndrome
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
This single-institution, phase II study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) using busulfan- and fludarabine-based…
- Conditions
- Mucopolysaccharidosis Disorders, Hurler Syndrome, Hunter Syndrome, Maroteaux Lamy Syndrome
- Trial name
- NCT02171104
- Testing
- Stem Cell Transplantation, IMD Preparative Regimen, Osteopetrosis Only Preparative Regimen
- Where
- United States
- Volunteers
- 149 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Infantile Refsum's Disease, Zellweger Syndrome
Study of Bile Acids in Patients With Peroxisomal Disorders
OBJECTIVES: I. Determine the effectiveness of oral bile acid therapy with cholic acid, chenodeoxycholic acid, and ursodeoxycholic acid in patients with peroxisomal disorders involving impaired primary bile acid synthesis. II.
- Conditions
- Infantile Refsum's Disease, Zellweger Syndrome, Bifunctional Enzyme Deficiency, Adrenoleukodystrophy
- Trial name
- NCT00004442
- Testing
- chenodeoxycholic acid, cholic acid, ursodiol
- Volunteers
- 25 people
- Sponsor
- University of Cincinnati
Autism Spectrum Disorder With Intellectual Deficiency
Recording Stress Biomarkers in Autism Spectrum Disorders
The goal of this observational study is to learn how stress affects children and young people with autism spectrum disorder (ASD).
- Trial name
- STRESSDEFIS (NCT07535801)
- Where
- France
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Universite Cote d'Azur
Hypotonia-Cystinuria Syndrome, Muscle Hypotonia
PREPL in Health and Disease
Evaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients
- Conditions
- Hypotonia-Cystinuria Syndrome, Muscle Hypotonia, Healthy Volunteers, Dwarfism, Growth Hormone Deficiency
- Trial name
- PHD (NCT02263781)
- Testing
- Blood draw, muscle biopsy
- Where
- Belgium
- Volunteers
- 125 people, healthy volunteers welcome
- Sponsor
- Universitaire Ziekenhuizen KU Leuven