Clinical trials: X-Linked Intellectual Disability
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
ALD (Adrenoleukodystrophy)
Study to Assess PXL065 in Subjects With Adrenomyeloneuropathy (AMN) Form of X-linked Adrenoleukodystrophy (X-ALD or ALD)
A randomized open-label Phase 2a study to assess the pharmacokinetics and pharmacodynamic parameters of PXL065 after 12 weeks of treatment in male subjects with adrenomyeloneuropathy (AMN).
- Trial name
- NCT05200104
- Testing
- PXL065
- Sponsor
- Poxel SA
Infantile Refsum's Disease, Zellweger Syndrome
Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid
OBJECTIVES: I. To Evaluate the therapeutic efficacy of cholic acid during provision of compassionate treatment to patients with identified inborn errors of bile acid synthesis and metabolism II.
- Conditions
- Infantile Refsum's Disease, Zellweger Syndrome, Adrenoleukodystrophy, Peroxisomal Disorders
- Trial name
- NCT00007020
- Testing
- Cholic Acids
- Where
- United States
- Volunteers
- 85 people
- Sponsor
- Mirum Pharmaceuticals, Inc.
Mucopolysaccharidosis Type II, Metabolic Diseases
A Multi-cohort Study of the Tolerance, Safety, and Pharmacokinetics of GNR-055 in Healthy Volunteers
It is a phase I open-label single-dose, dose-escalation cohort study to evaluate of the tolerance, safety, and pharmacokinetics of GNR-055 in healthy volunteers
- Trial name
- NCT04539340
- Testing
- GNR-055
- Where
- Russia
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- AO GENERIUM
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
Rett Syndrome
Esketamine for the Treatment of Rett Syndrome
The goal of this interventional study is to learn about the efficacy and safety of Esketamine for treating children with Rett syndrome (RTT).
- Trial name
- NCT06199700
- Testing
- Esketamine hydrochloride
- Where
- China
- Volunteers
- 3 people
- Sponsor
- Children's Hospital of Fudan University
Inherited Disease, Rare Diseases
Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.
General aim of the study is the improvement of the clinical knowledge of ultra-rare inherited metabolic and degenerative neurological diseases (prevalence less than 5:100,000) in adulthood through the systematic longitudinal…
- Conditions
- Inherited Disease, Rare Diseases, Metabolic Disease, Undiagnosed Disease
- Trial name
- NCT04880356
- Testing
- collection of data
- Where
- Italy
- Volunteers
- 100 people
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Hunter Syndrome
An Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome Patients
The objective of this study is to evaluate the effect of anti-idursulfase antibodies on idursulfase safety (measured by infusion related adverse events) between patients who develop anti-idursulfase antibodies and patients who do…
- Trial name
- NCT00882921
- Testing
- Idursulfase
- Where
- 6 sites in United States, Brazil and 1 more
- Volunteers
- 26 people
- Sponsor
- Shire
X-linked Adrenoleukodystrophy
Validation of a Prognostic Biomarker Using Brain Diffusion MRI in X-linked Adrenoleukodystrophy
CALD is an inflammatory demyelinating disease that causes severe motor and cognitive deficit leading to rapid death. Hematopoietic stem cell transplantation (HSCT) can halt neuroinflammation in CALD through the replacement of…
- Trial name
- CALDIFF (NCT05911919)
- Testing
- brainQuant module of brainTale-care platform
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Rett Syndrome
Open-Label Extension Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome
To investigate the safety and tolerability of long-term treatment with oral trofinetide in girls and women with Rett syndrome
- Trial name
- LILAC™ (NCT04279314)
- Testing
- Trofinetide
- Where
- 21 sites in United States
- Volunteers
- 154 people
- Sponsor
- ACADIA Pharmaceuticals Inc.
Rett Syndrome
Open Label Trial of Triheptanoin (UX007) in Treatment of Rett Syndrome.
This is a single-center, exploratory, open-label study in 10 girls diagnosed with Rett Syndrome. The study will consist of the following 4 parts: Screening/Baseline run-in, Titration/Dose-Setting, Treatment, and Washout/Follow-up.
- Trial name
- UX007 (NCT03059160)
- Testing
- Tridecanoic Acid
- Volunteers
- 10 people
- Sponsor
- Sheba Medical Center
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)
Fragile X Syndrome (FXS)
Novel Clinical Target in Fragile X Syndrome
Fragile X syndrome (FXS) is the most common genetic cause of autism spectrum disorder (ASD). The investigators wish to examine brain distribution of sigma-1 receptors in young adult males with FXS using 18F-FTC-146 PET.
- Trial name
- NCT04314856
- Testing
- 18F-FTC-146
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Guido A. Davidzon, MD, SM
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
Rett Syndrome
Lamivudine as a Novel Clinical Effort for Rett Syndrome
Rett syndrome (RTT) is a rare genetic neurodevelopmental disorder caused primarily by mutations in the MECP2 gene, leading to progressive impairments in motor function, communication, and behavior following an initial period of…
- Trial name
- LANCE (NCT07640503)
- Testing
- Lamivudine
- Where
- Brazil
- Volunteers
- 10 people
- Sponsor
- Maria Denise Fernandes Carvalho de Andrade
Metastatic Castration Resistant Prostate Cancer
A Study of Rucaparib in Patients With Metastatic Castration-resistant Prostate Cancer and Homologous Recombination Gene Deficiency
The purpose of this study is to determine how patients with metastatic castration-resistant prostate cancer, and evidence of a homologous recombination gene deficiency, respond to treatment with rucaparib.
- Trial name
- TRITON2 (NCT02952534)
- Testing
- Rucaparib
- Where
- 149 sites in United States, Australia and 10 more
- Volunteers
- 277 people
- Sponsor
- pharmaand GmbH
Rett Syndrome
Safety and Preliminary Efficacy of TSHA-102 Gene Therapy in Pediatric Females Aged >2 to <4 Years With Rett Syndrome
The primary objectives of this study are to evaluate the safety, tolerability and preliminary efficacy of a single intrathecal (IT) dose of TSHA-102 in pediatric females with typical Rett syndrome.
- Trial name
- ASPIRE (NCT07480564)
- Testing
- TSHA-102
- Where
- 3 sites in United States
- Volunteers
- 4 people
- Sponsor
- Taysha Gene Therapies, Inc.
Rett Syndrome
To Study the Efficacy & Safety of Oral NA-921 (Bionetide) in Girls and Women with Rett Syndrome
To study the efficacy \& safety of oral Bionetide versus placebo in girls and women with Rett syndrome
- Trial name
- NCT06849973
- Testing
- Drug: Bionetide
- Where
- 16 sites in United States, Australia
- Volunteers
- 187 people
- Sponsor
- Biomed Industries, Inc.
Fragile X Syndrome
Clinical Study Of caNNabidiol in childrEn and adolesCenTs With Fragile X (CONNECT-FX)
This trial will evaluate the efficacy and safety of ZYN002, a clear cannabidiol gel that can be applied to the skin (called transdermal application) twice a day for the treatment of behavioral symptoms of Fragile X Syndrome…
- Trial name
- CONNECT-FX (NCT03614663)
- Testing
- ZYN002 - Cannabidiol Transdermal Gel
- Where
- 21 sites in United States, Australia and 1 more
- Volunteers
- 212 people
- Sponsor
- Zynerba Pharmaceuticals, Inc.
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