Clinical trials: X-linked Mental Retardation
Cerebral Adrenoleukodystrophy (CALD), Adrenoleukodystrophy (ALD)
Long-term Follow-up of Participants With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product
This is a multi-center, long-term safety and efficacy follow-up study for participants with cerebral adrenoleukodystrophy (CALD) who have received Lenti-D Drug Product (eli-cel) in a parent clinical study (Study ALD-102 or Study…
- Conditions
- Cerebral Adrenoleukodystrophy (CALD), Adrenoleukodystrophy (ALD), X-Linked Adrenoleukodystrophy (X-ALD)
- Trial name
- NCT02698579
- Testing
- No interventional drug product utilized in this follow-up study
- Where
- 13 sites in United States, Argentina and 7 more
- Volunteers
- 64 people
- Sponsor
- Genetix Biotherapeutics Inc.
Rett Syndrome
To Investigate the Efficacy of Treatment With Oral NA-921 (Bionetide) Versus Placebo in Females With Rett Syndrome
Primary Objective • To investigate the efficacy of treatment with oral Bionetide versus placebo in girls and women with Rett syndrome Key Secondary Objective To investigate the efficacy of treatment with oral Bionetide versus…
- Trial name
- NCT06840496
- Testing
- Bionetide
- Where
- 18 sites in United States, Australia
- Volunteers
- 210 people
- Sponsor
- Biomed Industries, Inc.
Menkes Disease
NORTHERA (DROXIDOPA) for Dysautonomia in Pediatric Survivors of Menkes Disease
This clinical trial will evaluate the safety, tolerability, dosing, and efficacy of Northera (Droxidopa) in children with Menkes disease aged 7 to 17 years who survived the major neurodegenerative and neurocognitive effects of…
- Trial name
- NCT07398508
- Testing
- Droxidopa Oral Product
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Stephen G. Kaler
Leukemia, Myeloid, Acute, Leukemia, B-cell
Precision Exercise in Children With Malignant Hemopathies
In the early years of life and during adolescence, physical activity is crucial for good development of motor skills. It is even more so for those children and young people who are forced to undergo anti-cancer therapies and…
- Conditions
- Leukemia, Myeloid, Acute, Leukemia, B-cell, Leukemia, T Cell, Lymphoma, Hodgkin
- Trial name
- SportTherapy (NCT04090268)
- Testing
- Sport Therapy
- Where
- Italy
- Volunteers
- 380 people, healthy volunteers welcome
- Sponsor
- University of Milano Bicocca
X-linked Adrenoleukodystrophy
Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy
X-linked adrenoleukodystrophy (ALD) is a genetic disorder affecting the brain and adrenal glands. Approximately one third of boys who are at risk will develop cerebral disease.
- Trial name
- NCT02233257
- Testing
- Lorenzo's Oil
- Where
- United States
- Sponsor
- University of Minnesota
Non Malignant Disorders, Immunodeficiencies
Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders
The primary objective is to determine the feasibility of attaining acceptable rates of donor cell engraftment (>25% donor chimerism at 180 days) following reduced intensity conditioning (RIC) regimens in pediatric patients < 21…
- Conditions
- Non Malignant Disorders, Immunodeficiencies, Congenital Marrow Failures, Hemoglobinopathies
- Trial name
- NCT00744692
- Testing
- Unrelated Umbilical Cord Blood Transplant, Reduced Intensity Conditioning
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- Duke University
Behavioral Manifestations of Lesch-Nyhan Disease
Trial of Kuvan in Lesch-Nyhan Disease
To assess the possibility that treatment with Kuvan (a form of tetrahydrobiopterin) will lessen the abnormal behavior and/or neurology commonly found in Lesch-Nyhan disease (LND); to assess biochemical changes as measured in…
- Trial name
- NCT00935753
- Testing
- sapropterin
- Where
- United States
- Sponsor
- University of California, San Diego
Bone Marrow Failure Syndrome, Thalassemia
Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
In this study, the investigators test 2 dose levels of thiotepa (5 mg/kg and 10 mg/kg) added to the backbone of targeted reduced dose IV busulfan, fludarabine and rabbit anti-thymocyte globulin (rATG) to determine the minimum…
- Conditions
- Bone Marrow Failure Syndrome, Thalassemia, Sickle Cell Disease, Diamond Blackfan Anemia
- Trial name
- NCT03513328
- Testing
- Thiotepa--single daily dose, Thiotepa--escalated dose
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of Florida
Lesch-Nyhan Syndrome
Physiotherapy Assessment Based on the ICF Model in The Lesch-Nyhan Syndrome: Case Report
Lesch-Nyhan Syndrome (LNS) is a genetic disorder that results in a deficit in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme, which affects purine metabolism.
- Trial name
- NCT05548751
- Where
- Turkey (Türkiye)
- Volunteers
- 1 people
- Sponsor
- Uskudar University
Prader-Willi Syndrome, PWS-like Syndrome
GROWing Up With Rare GENEtic Syndromes
Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome.
- Conditions
- Prader-Willi Syndrome, PWS-like Syndrome, Silver Russel Syndrome, Congenital Hypopituitarism
- Trial name
- GROW UR GENES (NCT04463316)
- Testing
- Retrospective file studies
- Where
- Netherlands
- Volunteers
- 600 people
- Sponsor
- dr. Laura C. G. de Graaff-Herder
Rett Syndrome
Nutritional Aspects of Rett Syndrome
OBJECTIVES: I. Determine dietary macronutrient intake in children with Rett syndrome and in healthy controls. II. Measure sleeping and awake metabolic rates in various positions, i.e., reclining, sitting, and standing, by…
- Trial name
- NCT00004656
- Testing
- Metabolic assessment with body composition evaluation
- Volunteers
- healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Mucopolysaccharidosis I, Mucopolysaccharidosis II
Study to Evaluate the Safety and Efficacy of Adalimumab in MPS I, II, and VI
Randomized, double-blind, placebo-controlled, parallel-group, single-center study followed by open-label phase, to evaluate the effects of adalimumab compared to placebo on the change from baseline in joint and skeletal disease…
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis VI
- Trial name
- NCT03153319
- Testing
- Adalimumab Injection [Humira], Saline Solution for Injection
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Fragile X Syndrome, Genetic Diseases
Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome
The purpose of the study is to test the efficacy of a 20 week multi-modal treatment comprised of lovastatin or placebo, and the Parent-implemented Language Intervention (PILI) in children with fragile X syndrome (FXS).
- Trial name
- NCT02642653
- Testing
- Lovastatin
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University of California, Davis
Intellectual Disability, Epilepsy
MEHMO Natural History and Biomarkers
This observational natural history study will follow individuals with MEHMO (Mental disability, Epileptic seizure, Hypopituitarism/Hypogenitalism, Microcephaly, Obesity) syndrome or an eIF2-pathway related disorder, who have…
- Conditions
- Intellectual Disability, Epilepsy, Hypogonadisms, Microcephaly
- Trial name
- NCT06019182
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Adrenoleukodystrophy
Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy
OBJECTIVES: I. Evaluate the efficacy of interferon beta and thalidomide in male patients with adrenoleukodystrophy who show evidence of brain inflammatory response and are receiving concurrent glyceryl trierucate and glyceryl…
- Trial name
- NCT00004450
- Testing
- glyceryl trierucate, glyceryl trioleate, interferon beta
- Volunteers
- 60 people
- Sponsor
- FDA Office of Orphan Products Development
MPS II, Hunter Syndrome (MPS II)
An Extension Study to Assess the Long-term Safety and Efficacy of Hunterase (Idursulfase Beta)
The objective of this study is to assess the long-term safety and efficacy of Hunterase for approximately 1 year in subjects who completed the end of study (EOS) visit (Visit 54) tests in the Phase 3 Hunterase study and patients…
- Conditions
- MPS II, Hunter Syndrome (MPS II), Hunter Syndrome, Hunterase
- Trial name
- NCT07344376
- Testing
- Hunterase
- Where
- South Korea
- Volunteers
- 30 people
- Sponsor
- GC Biopharma Corp
Adrenomyeloneuropathy, Adrenoleukodystrophy
A Phase III Trial of Lorenzo's Oil in Adrenomyeloneuropathy
Study of the use of Lorenzo's oil in adults with adrenomyeloneuropathy, the adult form of Lorenzo's oil.
- Trial name
- NCT00545597
- Testing
- Lorenzo's oil
- Where
- United States
- Volunteers
- 240 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Rett Syndrome, Neurologic Disorder
Assessment of Nutritional and Growth Status in Rett Syndrome Patients
Children with Rett syndrome are in a period of rapid growth, and proper and appropriate nutritional support is very important. Past foreign research papers it has been pointed out that most of these patients have feeding…
- Trial name
- NCT06335368
- Testing
- Nutrition and Growth Status
- Volunteers
- 70 people
- Sponsor
- National Taiwan University Hospital
Rett Syndrome
The Role of Dietary Calcium for the Treatment of Osteopenia in Girls With Rett Syndrome
Randomized, placebo-controlled trial of oral calcium supplementation for osteopenia in girls and women with Rett syndrome
- Trial name
- NCT05352373
- Testing
- calcium
- Volunteers
- 32 people
- Sponsor
- Baylor College of Medicine
Rett Syndrome
The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome
Background: Rett syndrome (RS) is a panethnic (affecting all ethnicities) neurodevelopmental (impairment of the growth and development of the brain) disorder affecting primarily females.
- Trial name
- NCT00891956
- Where
- 3 sites in United States
- Volunteers
- 426 people
- Sponsor
- National Human Genome Research Institute (NHGRI)