Clinical trials: X-linked Mental Retardation
Rett Syndrome
Open-Label Extension Study of Trofinetide for Rett Syndrome
To investigate the safety and tolerability of continued long-term treatment with oral trofinetide in girls and women with Rett syndrome
- Trial name
- NCT04776746
- Testing
- trofinetide
- Where
- 21 sites in United States
- Volunteers
- 77 people
- Sponsor
- ACADIA Pharmaceuticals Inc.
Hunter Syndrome
Screening Study to Identify Pediatric Patients With Hunter Syndrome Who Demonstrate Evidence of Central Nervous System (CNS) Involvement and Who Are Currently Receiving Treatment With Elaprase®
This study is being conducted to identify pediatric patients with Hunter syndrome who have neurodevelopmental disease characteristics, who are currently receiving treatment with Elaprase, and who may be suitable to participate in…
- Trial name
- NCT00937794
- Testing
- Neurobehavioral testing, Visual and auditory assessments
- Where
- 2 sites in United States, United Kingdom
- Volunteers
- 33 people
- Sponsor
- Shire
Cerebral Adrenoleukodystrophy (CALD)
A Study of Participants With Cerebral Adrenoleukodystrophy (CALD) Treated With Elivaldogene Autotemcel
The main aim of this study is to assess and describe the safety outcomes, including newly diagnosed malignancies, of patients with CALD treated with eli-cel in the post-marketing setting (tradename Skysona) and to describe major…
- Trial name
- Stargazer (NCT06224413)
- Testing
- No Intervention
- Where
- 3 sites in United States
- Volunteers
- 120 people
- Sponsor
- Genetix Biotherapeutics Inc.
Fragile X Syndrome
An Initial Study of AZD7325 in Adults With Fragile X Syndrome
This study will investigate the safety, tolerability and blood pharmacodynamics of treatment with oral administration of AZD7325 at 5 mg BID, 15 mg BID, and placebo BID, in adults with Fragile X Syndrome.
- Trial name
- NCT03140813
- Testing
- AZD7325 (High-Dose), AZD7325 (Low-Dose)
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Mucopolysaccharidosis II
A Study of JR-141 in Patients With Mucopolysaccharidosis II
A Phase II/ III multicenter, open-label, single-group, designed to evaluate the efficacy and safety of study drug for the treatment of the MPS II.
- Trial name
- NCT03568175
- Testing
- JR-141
- Where
- 19 sites in Japan
- Volunteers
- 28 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
Angelman Syndrome, Fragile X Syndrome
Single Dose Pharmacokinetic (PK) Study
The trial is a Phase 1 Single Dose PK Study in Adolescent Subjects with Fragile X syndrome (FXS) or Angelman syndrome (AS). The primary objective of the study is to evaluate the pharmacokinetics (PK) of OV101 following a single 5…
- Trial name
- NCT03109756
- Testing
- OV101
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- Ovid Therapeutics Inc.
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
Fragile X Syndrome
A Study of BPN14770 in Male Adults (Aged 18 to 45) With Fragile X Syndrome
A Randomized, Double-blind, Placebo-controlled, Parallel Group Study of BPN14770 in Male Adults (Aged 18 to 45) with Fragile X Syndrome
- Trial name
- NCT05358886
- Testing
- BPN14770/ zatolmilast
- Where
- 17 sites in United States
- Volunteers
- 171 people
- Sponsor
- Tetra Discovery Partners
Fragile X Syndrome
Neurophysiological and Acute Pharmacological Studies in FXS Patients
The aim of this study is to utilize neurophysiologic assessments, behavioral measures and clinical measures to assess how much deficits associated with Fragile X Syndrome from pre-dose to post-dose using pharmacology.
- Trial name
- NCT02998151
- Testing
- Acamprosate, Lovastatin, Minocycline
- Where
- United States
- Volunteers
- 29 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
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
Rett Syndrome
A Pilot Study of an Antioxidant Cocktail vs. Placebo in the Treatment of Children and Adolescents With Rett Syndrome
This study will examine the potential efficacy and safety of Rett-T for core motor deficits of Rett syndrome, and will explore biological markers of safety and treatment response.
- Trial name
- NCT04041713
- Testing
- Rett-T
- Where
- Canada
- Volunteers
- 35 people
- Sponsor
- Holland Bloorview Kids Rehabilitation Hospital
Fragile X Syndrome, Disruptive Behavior
Treatment of Disruptive Behaviors in Fragile X Syndrome
Disruptive behaviors such as self-injury, aggression, and property destruction pose significant health-related issues to children diagnosed with fragile X syndrome (FXS), impacting the child's quality of life and causing…
- Trial name
- NCT03510156
- Testing
- Behavior analytic treatment
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Stanford University
Rett Syndrome, Prader-Willi Syndrome
Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW
This study will investigate sleep behavior in subjects with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome. The study will also investigate sleep behavior in healthy siblings of subjects with Angelman Syndrome, Rett…
- Conditions
- Rett Syndrome, Prader-Willi Syndrome, Angelman Syndrome, Sleep Problems
- Trial name
- RDCRN (NCT02670694)
- Where
- 9 sites in United States
- Volunteers
- 804 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Danon Disease, Fabry Disease
Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques
What is this study about? This research is focused on improving the care for people with rare heart muscle diseases, known as rare cardiomyopathies.
- Conditions
- Danon Disease, Fabry Disease, Cardiac Amyloidosis, Noonan Syndrome
- Trial name
- NCT07336394
- Where
- China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Chinese Academy of Medical Sciences, Fuwai Hospital
Rett Syndrome
Analysis of the Glutathione Cycle in Children With Rett Syndrome
Analyis of the Glutathione Cycle in Children with Rett Syndrome
- Trial name
- NCT02360436
- Where
- United States
- Sponsor
- Edison Pharmaceuticals Inc
AMN, AMN Gene Mutation
A Study to Evaluate Administration of SBT101 Gene Therapy in Adult Patients With Adrenomyeloneuropathy (AMN)
This is a Phase 1/2 randomized, blinded, dose-escalation study to evaluate the safety and efficacy of intrathecal (IT) administration of SBT101, a recombinant adeno-associated virus serotype 9 (AAV9) containing a functional copy…
- Conditions
- AMN, AMN Gene Mutation, X-ALD
- Trial name
- PROPEL (NCT05394064)
- Testing
- SBT101 Treatment
- Where
- 2 sites in United States, Netherlands
- Volunteers
- 9 people
- Sponsor
- SwanBio Therapeutics, Inc.
Rett Syndrome
ANAVEX2-73 Study in Patients With Rett Syndrome
ANAVEX2-73-RS-002 is a Phase 3, double-blind, randomized, placebo-controlled dose escalation safety, tolerability and efficacy study in patients 18 years and older with RTT using endpoints including multiple clinical and…
- Trial name
- AVATAR (NCT03941444)
- Testing
- ANAVEX2-73
- Where
- 7 sites in Australia, United Kingdom
- Volunteers
- 33 people
- Sponsor
- Anavex Life Sciences Corp.
All Diagnosed Health Conditions, ADD/ADHD
At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions
We are the missing link in clinical trials, connecting patients and researchers seamlessly and conveniently using a mobile health platform to advance medical research.
- Conditions
- All Diagnosed Health Conditions, ADD/ADHD, Alopecia Areata, Ankylosing Spondylitis
- Trial name
- NCT01931644
- Where
- United States
- Volunteers
- 17,667 people, healthy volunteers welcome
- Sponsor
- Sanguine Biosciences
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