Clinical trials: X-linked Mental Retardation
Rett Syndrome
Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms
This study evaluates the safety, tolerability and efficacy of Sarizotan in reducing respiratory abnormalities in Rett Syndrome in an initial double blind 24 week period followed by an open label treatment phase of up to 168 weeks…
- Trial name
- STARS (NCT02790034)
- Testing
- Sarizotan low dose, Sarizotan high dose
- Where
- 14 sites in United States, Australia and 3 more
- Volunteers
- 129 people
- Sponsor
- Newron Pharmaceuticals SPA
Rett Syndrome
Osteopathic Manipulative Treatment for Constipation in People With Rett Syndrome
Constipation consists of bowel symptoms characterized by difficulty or infrequency passage of stool, stiff stool, or a feeling of incomplete evacuation. However, its impact goes far beyond this definition.
- Trial name
- NCT05687214
- Testing
- Osteopathic manipulative treatment
- Where
- Italy
- Volunteers
- 12 people
- Sponsor
- Ariel University
Hunter Syndrome, Mucopolysaccharidosis II (MPS II)
Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase
Study TKT024EXT was a long-term, single-arm, open-label extension of Study TKT024, a one year Phase 2/Phase 3 registration study.
- Trial name
- NCT00630747
- Testing
- Idursulfase
- Where
- 52 sites in United States, Brazil and 8 more
- Volunteers
- 94 people
- Sponsor
- Shire
Congenital Vertical Talus, Familial Encephalopathy With Neuroserpin Inclusion Bodies
Genetic Disease Gene Identification
This is a a study to identify inherited disease genes. The study will use molecular techniques to map genetic diseases using techniques such as Affymetrix SNP chips.
- Conditions
- Congenital Vertical Talus, Familial Encephalopathy With Neuroserpin Inclusion Bodies, Idiopathic Generalised Epilepsy, Familial Dementia
- Trial name
- NCT00916903
- Where
- United States
- Volunteers
- 176 people, healthy volunteers welcome
- Sponsor
- State University of New York - Upstate Medical University
Fragile X Syndrome
Effect of CBD on the Brain
This proposal focuses on the therapeutic relevance of the endocannabinoid (eCB) system for the treatment of Fragile-X syndrome (FXS), the primary hereditary cause of autism spectrum disorder (ASD).
- Trial name
- NCT06261450
- Testing
- CBD Oral Solution (eCBD system Target)
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Université de Sherbrooke
Fragile X Syndrome
Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG- Infant
Individuals with Fragile X Syndrome show differences in how they understand and learn language from infancy. They frequently have lifelong delays in speech and language as well.
- Trial name
- NCT06560242
- Testing
- Speech discrimination
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Fragile X Syndrome
Biomarker and DNA Collection in Subjects Participating in Protocol 22003
The subjects that meet the inclusion and exclusion criteria and consent to participate in protocol 22003 will be offered participation in 22003A which will evaluate secreted protein before and after treatment with STX209 and…
- Trial name
- NCT00892580
- Testing
- STX209
- Where
- 8 sites in United States
- Volunteers
- 32 people
- Sponsor
- Seaside Therapeutics, Inc.
Fragile X Syndrome, Fragile X Syndrome (FXS)
Clinical Study of Cannabidiol in Children, Adolescents, and Young Adults With Fragile X Syndrome
This is a randomized, double-blind, placebo-controlled, multiple-center study, to assess the efficacy and safety of cannabidiol administered as ZYN002 for the treatment of children, adolescent, and young adult patients with…
- Trial name
- RECONNECT (NCT04977986)
- Testing
- ZYN002
- Where
- 27 sites in United States, Australia and 3 more
- Volunteers
- 257 people
- Sponsor
- Harmony Biosciences Management, Inc.
RETT Syndrome With Proven MECP2 Mutation
Osteoporosis in RETT Syndrome
Based on our clinical observations, many girls with RETT syndrome, a severe neuro-developmental encephalopathy, suffer from osteoporosis which can appear at a very early age (before age 10) and can lead to fractures, pain and a…
- Trial name
- OSRETT (NCT02110797)
- Testing
- biological markers and evaluation of the mineral density at the lumber spine using DEXA
- Where
- France
- Volunteers
- 98 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Fragile X Syndrome, Intellectual Disability
Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
The purpose of the study is to evaluate a 2-3 day treatment probe targeted to improving social gaze behavior in children with fragile X syndrome (FXS).
- Trial name
- NCT02616796
- Testing
- Social gaze training
- Where
- United States
- Volunteers
- 71 people
- Sponsor
- Stanford University
Rett Syndrome
Pharmacological Treatment of Rett Syndrome With Statins
This is a phase 2 , open label, dose escalating study of Lovastatin in Rett syndrome.
- Trial name
- Statins (NCT02563860)
- Testing
- Lovastatin
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Montefiore Medical Center
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
Fragile X Syndrome, FXS
A 2-Period Crossover Study of BPN14770 in Adults Males With Fragile X Syndrome
This is a single-center, randomized, double-blind, 2-period crossover study to explore the effects of BPN14770 on cognitive function and behavior in subjects with Fragile X Syndrome.
- Conditions
- Fragile X Syndrome, FXS, Fra(X) Syndrome
- Trial name
- NCT03569631
- Testing
- BPN14770
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Tetra Discovery Partners
Autism, Fragile-X Syndrome (FXS)
Glutaminergic Transmission in Autism : Molecular Imaging Exploration
Glutamatergic transmission exploration using PET (Positron Emission Tomography) imaging in autism compared to Fragile-X Syndrome ( FXS) and Healthy Volunteers
- Conditions
- Autism, Fragile-X Syndrome (FXS), Healthy Volunteers
- Trial name
- TANGAU (NCT02719951)
- Testing
- [18F]FPEB PET imaging, Biological samples, MRI
- Where
- France
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- University Hospital, Tours
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
Mucopolysaccharidosis II
A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II (STARLIGHT)
A Global Phase III multicenter, randomized, assessor-blinded, active-controlled designed to evaluate safety and efficacy of study drug for the treatment of the MPS II.
- Trial name
- NCT04573023
- Testing
- JR-141, Idursulfase, JR-141 or Idursulfase
- Where
- 26 sites in United States, Argentina and 10 more
- Volunteers
- 86 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
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.
Rett Syndrome
A Safety Study of NNZ-2566 in Patients With Rett Syndrome
The purpose of this study is to determine whether NNZ-2566 is safe and well tolerated in the treatment of Rett Syndrome in adolescent and adult females.
- Trial name
- NCT01703533
- Testing
- NNZ-2566
- Where
- 3 sites in United States
- Volunteers
- 67 people
- Sponsor
- Neuren Pharmaceuticals Limited
Mucopolysaccharidosis II
A Study of JR-141 in Patients With Mucopolysaccharidosis Type II
The purpose of this study in patients with mucopolysaccharidosis type II (MPS II) is below, to collect the safety information of JR-141 to evaluate the plasma pharmacokinetics of JR-141 to explore the efficacy of JR-141 on MPS…
- Trial name
- NCT03128593
- Testing
- JR-141
- Where
- 8 sites in Japan
- Volunteers
- 14 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
Osteopenia, Spinal Muscular Atrophy
Effects of Standing on Non-Ambulatory Children With Neuromuscular Conditions
Children with neuromuscular disabilities and limited ambulation are at significant risk for decreased bone mineral density (BMD) and increased incidence of fracture.
- Conditions
- Osteopenia, Spinal Muscular Atrophy, Cerebral Palsy, Muscular Dystrophy
- Trial name
- NCT02428673
- Testing
- Assisted Standing Treatment Program
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Gillette Children's Specialty Healthcare