Clinical trials: X-linked Mental Retardation
Fragile x Syndrome
Ganaxolone Treatment in Children With Fragile X Syndrome
This Phase 2 proof-of-concept study is a double-blind, randomized, placebo-controlled, crossover study to investigate ganaxolone treatment in children with fragile x syndrome (FXS).
- Trial name
- NCT01725152
- Testing
- Ganaxolone
- Where
- 2 sites in United States, Belgium
- Volunteers
- 59 people
- Sponsor
- Marinus Pharmaceuticals
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
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
Non Malignant Disorders, Immunodeficiencies
Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders
The primary objective is to determine the feasibility of attaining acceptable rates of donor cell engraftment (>25% donor chimerism at 180 days) following reduced intensity conditioning (RIC) regimens in pediatric patients < 21…
- Conditions
- Non Malignant Disorders, Immunodeficiencies, Congenital Marrow Failures, Hemoglobinopathies
- Trial name
- NCT00744692
- Testing
- Unrelated Umbilical Cord Blood Transplant, Reduced Intensity Conditioning
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- Duke University
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
Fragile X Syndrome, Genetic Diseases
Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome
The purpose of the study is to test the efficacy of a 20 week multi-modal treatment comprised of lovastatin or placebo, and the Parent-implemented Language Intervention (PILI) in children with fragile X syndrome (FXS).
- Trial name
- NCT02642653
- Testing
- Lovastatin
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University of California, Davis
Hunter Syndrome
A Study of Elaprase in Children and Adults With Hunter Syndrome (Mucopolysaccharidosis II) in India
The main aim of this study is to learn more about the safety profile of Elaprase in Indian children and adults with hunter syndrome.
- Trial name
- NCT05058391
- Testing
- Elaprase
- Where
- 5 sites in India
- Volunteers
- 5 people
- Sponsor
- Takeda
Lesch-Nyhan Disease, Self-injurious Behavior
Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease
The purpose of this research study is to gather scientific information about the effectiveness and safety of the study drug, Ecopipam (PSYRX 101), for the treatment of self-injurious behaviors when compared with the effectiveness…
- Trial name
- NCT01751802
- Testing
- Ecopipam
- Where
- 2 sites in United States, Spain
- Volunteers
- 9 people
- Sponsor
- Emalex Biosciences Inc.
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
Rett Syndrome, RTT
A Long-term Safety Study of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome
This study will be conducted to evaluate the long-term safety of cannabidiol oral solution (GWP42003-P, CBD-OS) in participants with Rett syndrome.
- Trial name
- NCT04252586
- Testing
- GWP42003-P
- Where
- 31 sites in United States, Australia and 4 more
- Volunteers
- 21 people
- Sponsor
- Jazz Pharmaceuticals
Fragile X Syndrome
Placebo-Controlled, Single-Dose Challenge Study of Gaboxadol in Adult Males With Fragile X Syndrome (FXS)
This is a single dose, placebo-controlled study. Male subjects aged 18 to 40 years (inclusive) with a diagnosis of FXS. Eligible subjects may enroll in this study comprised of two in home and two in clinic visits each 14 days…
- Trial name
- NCT06334419
- Testing
- Gaboxadol
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Craig Erickson
Lysosomal Storage Disease, Peroxisomal Disorder
Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders
This study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) in patients with high-risk lysosomal and peroxisomal disorders using a novel…
- Trial name
- NCT01626092
- Testing
- Campath-1H, Clofarabine, Melphalan
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Cerebral Adrenoleukodystrophy (CALD)
A Clinical Study to Assess the Efficacy and Safety of Gene Therapy for the Treatment of Cerebral Adrenoleukodystrophy (CALD)
The purpose of this study is to evaluate the efficacy and safety of Lenti-D Drug Product (also known as elivaldogene autotemcel or Skysona, hereafter referred to as eli-cel) after myeloablative conditioning with busulfan and…
- Trial name
- NCT03852498
- Testing
- Lenti-D
- Where
- 8 sites in United States, France and 4 more
- Volunteers
- 35 people
- Sponsor
- Genetix Biotherapeutics Inc.
Rett Syndrome
An Open-Label Study of Trofinetide for the Treatment of Girls Two to Five Years of Age Who Have Rett Syndrome
To investigate the safety and tolerability of long-term treatment with oral trofinetide in girls with Rett syndrome
- Trial name
- DAFFODIL™ (NCT04988867)
- Testing
- Trofinetide
- Where
- 7 sites in United States
- Volunteers
- 15 people
- Sponsor
- ACADIA Pharmaceuticals Inc.
Fragile X Syndrome
Safety, Tolerability and Efficacy Study of STX209 in Subjects With Fragile X Syndrome
The study objective is to explore the efficacy, safety and tolerability of STX209 for treatment of irritability in subjects with FSX.
- Trial name
- NCT00788073
- Testing
- STX209
- Where
- 12 sites in United States
- Volunteers
- 63 people
- Sponsor
- Seaside Therapeutics, Inc.
Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II
Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI
The purpose of the study is to collect preliminary data on whether the drug adalimumab (also called Humira) can decrease pain and stiffness, improve quality of life, and is safe in people with mucopolysaccharidosis type I, II, or…
- Conditions
- Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type VI
- Trial name
- NCT02437253
- Testing
- Adalimumab
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
X-linked Adrenoleukodystrophy
Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy
The purpose is to see how X-linked adrenoleukodystrophy (X-ALD) is associated with strength and sensation using MRI, in women with X-ALD.
- Trial name
- NCT01594853
- Testing
- exercise training
- Where
- United States
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Menkes Disease, Occipital Horn Syndrome
NORTHERA (DROXIDOPA) for Dysautonomia in Adult Survivors of Menkes Disease and Occipital Horn Syndrome
The purpose of this study is to evaluate whether Northera (Droxidopa) is safe and effective in young adults with Menkes disease who survived the most severe complications of their illness or adults with occipital horn syndrome…
- Trial name
- NCT04977388
- Testing
- Droxidopa
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Stephen G. Kaler, MD
Fragile X Syndrome (FXS)
A Study of OV101 in Individuals With Fragile X Syndrome
The purpose of this study is to assess the safety, tolerability and efficacy of oral OV101 (gaboxadol) in subjects with Fragile X syndrome.
- Trial name
- ROCKET (NCT03697161)
- Testing
- OV101 (gaboxadol)
- Where
- 6 sites in United States
- Volunteers
- 36 people
- Sponsor
- Ovid Therapeutics Inc.
Fragile X Syndrome
Riluzole in Fragile X Syndrome
The purpose of this study is to investigate the effectiveness and tolerability of riluzole in adults with Fragile X Syndrome.
- Trial name
- NCT00895752
- Testing
- Riluzole
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Indiana University