Clinical trials: Intellectual Disabilities Nutritional
MPS II, Mucopolysaccharidosis II
MPS II Immunophenotyping
The purpose of this study is to investigate how participant's body's immune system responds to idursulfase, an enzyme replacement therapy (ERT) and find out which types of immune cells are involved in causing untoward responses…
- Conditions
- MPS II, Mucopolysaccharidosis II, Hunter Syndrome
- Trial name
- NCT04976231
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Duke University
Prader Willi Syndrome, Childhood Obesity
Family-based Intervention for Youth With Prader-Willi Syndrome: The Active Play at Home Study
Compared to other children, those with disability have additional challenges to being physically active. Prader-Willi Syndrome (PWS) is a genetic form of childhood obesity that is characterized by hypotonia, growth hormone…
- Trial name
- APAH (NCT02058342)
- Testing
- Active Play at Home
- Where
- 2 sites in United States
- Volunteers
- 115 people
- Sponsor
- California State University, Fullerton
Prader-Willi Syndrome
Clinical Study of Diazoxide Choline Controlled-Release Tablet (DCCR) in Patients With Prader-Willi Syndrome
This is a single-center, open-label, single-arm study with a double-blind, placebo-controlled, randomized withdrawal extension. Patients are initiated on a DCCR dose of about 1.5 mg/kg (maximum starting dose of 145 mg) and are…
- Trial name
- NCT02034071
- Testing
- DCCR
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- Essentialis, Inc.
Sjogren-Larsson Syndrome (SLS)
Sjogren-Larsson Syndrome: Natural History, Clinical Variation and Evaluation of Biochemical Markers
Sjogren-Larsson syndrome (SLS) is a rare genetic disease in which patients typically exhibit ichthyosis (dry, scaly skin), intellectual disability, spasticity, seizures and a distinctive maculopathy.
- Trial name
- SLS (NCT01971957)
- Where
- 2 sites in United States
- Volunteers
- 20 people
- Sponsor
- University of Nebraska
X-Linked Adrenoleukodystrophy (X-ALD), Cerebral Adrenoleukodystrophy (CALD)
Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD)
Study ALD-103 will be a multi-site, global, prospective and retrospective data collection study that is designed to evaluate outcomes of allo-HSCT in male subjects with CALD ≤17 years of age.
- Conditions
- X-Linked Adrenoleukodystrophy (X-ALD), Cerebral Adrenoleukodystrophy (CALD), Adrenoleukodystrophy (ALD)
- Trial name
- NCT02204904
- Testing
- Allo-HSCT
- Where
- 13 sites in United States, Argentina and 5 more
- Volunteers
- 59 people
- Sponsor
- Genetix Biotherapeutics Inc.
Prader-Willi Syndrome
Targeting the Gut Microbiome for Prader-Willi Syndrome Treatment
The gut microbiome has recently emerged as a major contributor to obesity, systemic inflammation, and metabolic disease. Furthermore, intestinal bacteria are crucial players in the gut-brain axis, regulating a broad range of…
- Trial name
- BALPWS (NCT03548480)
- Testing
- Probiotic
- Where
- Spain
- Volunteers
- 39 people
- Sponsor
- Fundació Sant Joan de Déu
Prader-Willi Syndrome
Follow-up of Prader Willi Syndrome Infants Treated by Oxytocin and Comparison With Not-treated Infants.
The objective of this study is to collect data on tolerance and effects of early treatment with oxytocin in children with Prader Willi Syndrome aged from 3 to 4 years and to compare these infants with not treated age-matched…
- Trial name
- OT2SUITE (NCT03081832)
- Testing
- Oxytocin, Control
- Where
- France
- Volunteers
- 34 people
- Sponsor
- University Hospital, Toulouse
Prader-Willi Syndrome
Study of Emotion and Cognition Abilities of Children With PWS and Proposition of an Innovative Remediation
The present project project is divided in two parts. The primary aim of the part 1 of this study is to evaluate emotional control abilities of children with Prader-Willi syndrome (PWS) aged from 9 to 15 years and to study…
- Trial name
- PRACOM1 (NCT04526379)
- Testing
- Questionnaires, t-VNS
- Where
- France
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University Hospital, Toulouse
Obesity, Over-weight
An Efficacy, Safety, and Pharmacokinetics Study of Beloranib in Obese Subjects With Prader-Willi Syndrome
The purpose of this study is to evaluate the efficacy, safety, and pharmacokinetics for certain doses of beloranib in obese subjects with Prader-Willi Syndrome.
- Conditions
- Obesity, Over-weight, Prader-Willi Syndrome
- Trial name
- NCT01818921
- Testing
- ZGN-440 sterile diluent, 1.2 mg ZGN-440 for injectable suspension, 1.8 mg ZGN-440 for injectable suspension
- Where
- United States
- Volunteers
- 17 people
- Sponsor
- Zafgen, Inc.
Danon Disease
A Gene Therapy Study of RP-A501 in Male Patients With Danon Disease
This is a single arm Phase 2 trial to evaluate the efficacy and safety of RP-A501, a recombinant adeno-associated virus serotype 9 (rAAV9) vector containing the human lysosome-associated membrane protein 2 isoform B (LAMP2B)…
- Trial name
- NCT06092034
- Testing
- RP-A501
- Where
- 6 sites in United States, Germany and 2 more
- Volunteers
- 18 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Prader-Willi Syndrome
A Study of Pitolisant in Patients With Prader-Willi Syndrome
This is a Phase 3, randomized, double-blind, placebo-controlled, multicenter, global clinical study to assess the efficacy and safety of pitolisant in patients living with Prader-Willi syndrome.
- Trial name
- NCT06366464
- Testing
- Pitolisant tablet
- Where
- 57 sites in United States, Australia and 11 more
- Volunteers
- 134 people
- Sponsor
- Harmony Biosciences Management, Inc.
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
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)
Hunter Syndrome
A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase®
Elaprase (idursulfase), a large molecular protein, is not expected to cross the blood brain barrier at therapeutic levels when administered intravenously.
- Trial name
- NCT00920647
- Testing
- Control, Idursulfase IT (1 mg), Idursulfase IT (10 mg)
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 16 people
- Sponsor
- Shire
Prader-Willi Syndrome
A Study to Assess the Long-Term Safety of Pharmaceutical Grade Synthetic Cannabidiol Oral Solution in Participants With Prader-Willi Syndrome
The objective of this study is to assess the long-term safety and tolerability of Cannabidiol Oral Solution (CBD) in participants with Prader-Willi Syndrome.
- Trial name
- NCT03458416
- Testing
- Cannabidiol Oral Solution
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Radius Pharmaceuticals, Inc.
Prader-Willi Syndrome
PWS European Blood Bank for Infants and Controls From 0 to 48 Months
The present project aims to determine the underlying mechanisms for the switch from failure to thrive to excessive weight gain and hyperphagia with impaired satiety in PWS.
- Trial name
- NCT02529085
- Testing
- blood samples
- Where
- 6 sites in Belgium, France and 4 more
- Volunteers
- 215 people, healthy volunteers welcome
- Sponsor
- University Hospital, Toulouse
ALD (Adrenoleukodystrophy), Adrenoleukodystrophy
Adrenoleukodystrophy National Registry Study
The aim of this registry to understand the natural history and disease progression in ALD and potentially develop bio-markers using the biospecimens collected using this registry.
- Conditions
- ALD (Adrenoleukodystrophy), Adrenoleukodystrophy, Cerebral Adrenoleukodystrophy
- Trial name
- NCT03789721
- Testing
- Medical Record Abstraction, Biospecimen Sample Collection
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Danon Disease
Natural History of Danon Disease
This is a multicenter, international, non-interventional, natural history study designed to collect longitudinal retrospective clinical information on patients with Danon disease (DD).
- Trial name
- NCT05548855
- Testing
- Heart Transplant, Cardiac Assistive Device
- Where
- 15 sites in Czechia, France and 3 more
- Volunteers
- 59 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Pyruvate Dehydrogenase Complex Deficiency, Pyruvate Dehydrogenase E1 Alpha Deficiency
Natural History Study of Pyruvate Dehydrogenase Deficiency
Pyruvate dehydrogenase (PDH) deficiency is one of the most common mitochondrial disorders. Patients with this genetic condition have difficulty utilising carbohydrates to produce energy and develop a combination of problems…
- Conditions
- Pyruvate Dehydrogenase Complex Deficiency, Pyruvate Dehydrogenase E1 Alpha Deficiency, Pyruvate Dehydrogenase E1-Beta Deficiency, Pyruvate Dehydrogenase E2 Deficiency
- Trial name
- NCT05257005
- Where
- United Kingdom
- Volunteers
- 50 people
- Sponsor
- Great Ormond Street Hospital for Children NHS Foundation Trust
Sjögren-Larsson Syndrome
A Study of Topical NS2 Cream to Treat Ichthyosis in Sjögren-Larsson Syndrome (SLS)
This is a multi-center, randomized, double-blind, vehicle-controlled, parallel-group study designed to evaluate the safety, pharmacokinetic (PK), and exploratory activity of topically-applied NS2 dermatologic cream administered…
- Trial name
- NCT02402309
- Testing
- Active topical NS2 1% dermatologic cream
- Where
- 3 sites in United States
- Volunteers
- 12 people
- Sponsor
- Aldeyra Therapeutics, Inc.