Clinical trials: X-linked Mental Retardation
X-linked Adrenoleukodystrophy, Adrenomyeloneuropathy
The Effect of Bezafibrate on the Level of Very Long Chain Fatty Acids (VLCFA) in X-linked Adrenoleukodystrophy (X-ALD)
X-linked adrenoleukodystrophy (X-ALD) is an inherited metabolic disorder characterised by accumulation of very long chain fatty acids (VLCFA) in plasma and tissue. Presumably this accumulation is responsible for tissue damage.
- Trial name
- BEZA (NCT01165060)
- Testing
- Bezafibrate
- Where
- Netherlands
- Volunteers
- 10 people
- Sponsor
- Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
Fragile X Syndrome
Study of Acamprosate in Fragile x Syndrome
In this research study we want to understand the effectiveness of a drug treatment, acamprosate, for interfering symptoms (i.e., inattention/hyperactivity, social impairment) associated with Fragile X Syndrome (FXS).
- Trial name
- NCT01911455
- Testing
- acamprosate
- Where
- 2 sites in United States
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
X-Linked Adrenoleukodystrophy, Adrenomyeloneuropathy
Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD)
The purpose of this study is to assess the safety, tolerance, pharmacokinetics, and pharmacodynamics of sobetirome, a selective thyroid hormone analog, in adult male X-ALD patients.
- Trial name
- NCT01787578
- Testing
- Sobetirome
- Where
- United States
- Sponsor
- Thomas S. Scanlan
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
Mucopolysaccharidosis II
Safety and Efficacy of HMI-203 in ERT-Treated Adults With MPS II
Phase 1, open-label, sequential ascending dose-escalation study. Designed to evaluate the safety and efficacy of a single IV infusion of investigational gene therapy HMI-203.
- Trial name
- NCT05238324
- Testing
- Genetic HMI-203
- Where
- 6 sites in United States, Canada
- Sponsor
- Homology Medicines, Inc
X-linked Mental Retardation
Clinical Phenotyping and Characterization of Neural Networks and Cognitive Processes Involved in Mental Retardation X-linked
X-linked Mental retardation (XLMR) represent 10% of the causes of mental retardation with a prevalence in both sexes around 1/296, i.e. 3.3 / 1000 births (Opitz et al., 1986).
- Trial name
- XLMR (NCT02854956)
- Testing
- Neuropsychological, cognitive and behavioral assessment
- Where
- France
- Volunteers
- 573 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Fragile X Syndrome (FXS), Neurotypical Adults
Neural Biomarkers in Fragile X Syndrome
The purpose of this non-interventional test /re-test study is to assess neural biomarkers in adult subjects with Fragile X syndrome compared to those measured in a population of typically developing adults
- Trial name
- EXP-CTH120 (NCT06957054)
- Testing
- Any
- Where
- 2 sites in Spain
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Connecta Therapeutics, S.L.
Fragile X Syndrome
Metformin in Patients With Fragile X
The purpose of this trial is to investigate the use of metformin in the treatment of Fragile X syndrome (FXS) patients. Metformin is an FDA approved compound with an established safety profile and minimal side effects that…
- Trial name
- NCT04141163
- Testing
- Metformin
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Rowan University
Rett Syndrome, RTT
The Diagnostic Experience of Male Rett Syndrome
The Diagnostic Experience of Male Rett Syndrome collects information on the lived experiences of parents or caregivers to boys with Rett Syndrome.
- Trial name
- NCT06346106
- Testing
- Male Rett
- Where
- United States
- Volunteers
- 80 people
- Sponsor
- Children's Hospital Colorado
Fragile X Syndrome, Fragile X Mental Retardation Syndrome
A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
This study is a controlled trial of metformin in individuals with fragile X syndrome between the ages of 6 and 35 years. Participants will be randomized in a double-blind design to either drug or placebo and will attend three…
- Conditions
- Fragile X Syndrome, Fragile X Mental Retardation Syndrome, Mental Retardation, X-Linked, Genetic Diseases, X-Linked
- Trial name
- NCT03862950
- Testing
- Metformin
- Where
- 2 sites in Canada
- Volunteers
- 125 people
- Sponsor
- University of Alberta
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes
Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT
The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant…
- Conditions
- Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias
- Trial name
- HSCT+RIC (NCT01962415)
- Testing
- Hydroxyurea, Alemtuzumab, Fludarabine
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Paul Szabolcs
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
An Open-Label Extension Study of BPN14770 in Subjects With Fragile X Syndrome
This is a 4-year, open-label extension (OLE) study for subjects completing one of two double-blind clinical trials with BPN14770, Study BPN14770-CNS-301 (in adult males) and Study BPN14770-CNS-204 (in adolescent males).
- Trial name
- NCT05367960
- Testing
- Zatolmilast/ BPN14770
- Where
- 17 sites in United States
- Volunteers
- 314 people
- Sponsor
- Tetra Discovery Partners
Rett Syndrome
Pilot Study of the Effects of the Desipramine on the Neurovegetative Parameters of the Child With Rett Syndrome
Rett syndrome is a neurodevelopmental disorder characterized by cognitive impairment, communication dysfunction, stereotypic movement disorder, and growth failure.
- Trial name
- NCT00990691
- Testing
- Administration of a high dose of desipramine, Administration of a low dose of desipramine
- Where
- France
- Volunteers
- 36 people
- Sponsor
- Assistance Publique Hopitaux De Marseille
Fragile X Syndrome
A 6-week, Study of MG01CI Low Dose and High Dose Compared With Placebo in Adults and Adolescents With Fragile X Syndrome
This study is a multisite, randomized, double-blind, placebo-controlled, phase 2 study of MG01CI (low dose and high dose once daily) for 6 weeks compared with placebo in a 1:1 ratio of 60 adolescent and adult subjects with…
- Trial name
- NCT02126995
- Testing
- MG01CI extended-release tablet
- Where
- 12 sites in United States, Israel
- Volunteers
- 62 people
- Sponsor
- Alcobra Ltd.
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
Rett Syndrome
New Genes Involved in Molecular Etiology of Rett Syndrome Through DNA Microarray Comparative Genomic Hybridization
Rett syndrome (RTT) is a genetic encephalopathy and the typical form is caused by mutations in the gene MECP2. It is a genetically heterogeneous pathology.
- Trial name
- RETT (NCT02885090)
- Testing
- Blood sampling
- Where
- 9 sites in France
- Volunteers
- 17 people, healthy volunteers welcome
- Sponsor
- Central Hospital, Nancy, France
Rett Syndrome, RTT
Efficacy and Safety of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome
To evaluate the efficacy of cannabidiol oral solution (GWP42003-P, CBD-OS) in reducing symptom severity when compared with placebo, in participants with Rett syndrome.
- Trial name
- ARCH (NCT03848832)
- Testing
- GWP42003-P
- Where
- 26 sites in United States, Italy and 2 more
- Volunteers
- 29 people
- Sponsor
- Jazz Pharmaceuticals
Rett Syndrome
Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome
Rett syndrome (RTT) is a disorder in which the nervous system does not develop properly. RTT generally affects girls, but there are some boys who have been diagnosed with RTT.
- Trial name
- NCT00069550
- Testing
- dextromethorphan, donepezil hydrochloride
- Where
- United States
- Volunteers
- 90 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Hunter Syndrome
Collection and Study of Cerebrospinal Fluid in Patients With Hunter Syndrome
The purpose of the study is to collect data on CSF biomarkers in patients with Hunter Syndrome that would serve as reference data for comparison with cognitively impaired patients with Hunter syndrome, patients with other…
- Trial name
- NCT01449240
- Testing
- No treatment
- Where
- 7 sites in United States, United Kingdom
- Volunteers
- 10 people
- Sponsor
- Shire