Clinical trials: X-Linked
Brain Diseases, Metabolic, Inborn, Urea Cycle Disorder
Neurologic Injuries in Adults With Urea Cycle Disorders
Urea cycle disorders (UCDs) are a group of rare inherited metabolism disorders. The purpose of this study is to evaluate how UCD-related neurologic injuries affect adults with one of the most common types of UCD.
- Conditions
- Brain Diseases, Metabolic, Inborn, Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency
- Trial name
- NCT00472732
- Where
- 2 sites in United States
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- Andrea Gropman
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
Duchenne Muscular Dystrophy (DMD)
Study of Eteplirsen in DMD Patients
The main objective of this study is to provide evidence of efficacy of eteplirsen (AVI-4658) in Duchenne muscular dystrophy (DMD) patients that are amenable to skipping exon 51.
- Trial name
- PROMOVI (NCT02255552)
- Testing
- eteplirsen
- Where
- 37 sites in United States
- Volunteers
- 109 people
- Sponsor
- Sarepta Therapeutics, Inc.
Fragile X Syndrome
AFQ056 for Language Learning in Children With FXS
The purpose of this clinical trial is to investigate the impact of AFQ056 on language learning in 3-6 year old children with Fragile X Syndrome (FXS).
- Trial name
- FX-LEARN (NCT02920892)
- Testing
- AFQ056, Language Intervention
- Where
- 14 sites in United States
- Volunteers
- 110 people
- Sponsor
- Elizabeth Berry-Kravis
Fragile X Syndrome
Add-on Pilot Trial of Minocycline to Treat Fragile X Syndrome
Fragile X Syndrome (FXS) is the most common known inherited form of mental impairment, developmental disability and autism. Minocycline is an antibiotic that has recently been used to treat the mouse model for Fragile X, and was…
- Trial name
- NCT00858689
- Testing
- Minocycline
- Where
- Canada
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- FRAXA Research Foundation
X-Linked Hypophosphatemia
Efficacy and Safety of Burosumab Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With XLH
The primary objective of this study is to evaluate the effect of KRN23 (burosumab) therapy in improving rickets in children with XLH compared with active control (oral phosphate/active vitamin D).
- Trial name
- NCT02915705
- Testing
- burosumab, Oral Phosphate Supplement, active vitamin D
- Where
- 16 sites in United States, Australia and 5 more
- Volunteers
- 61 people
- Sponsor
- Kyowa Kirin, Inc.
Rett Syndrome
Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone)
A phase 2 open label trial to test a potential drug treatment for Rett syndrome, the leading known genetic cause of severe neurological impairment in girls.
- Trial name
- NCT02153723
- Testing
- Glatiramer Acetate
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Montefiore Medical Center
Rett Syndrome
Treatment of Rett Syndrome With rhIGF-1 (Mecasermin [rDNA]Injection)
The investigators are recruiting children for a research study using a medication known as IGF-1 (mecasermin or INCRELEX) to see if it improves the health of children with Rett syndrome (RTT).
- Trial name
- NCT01253317
- Testing
- rhIGF-1
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Boston Children's Hospital
Fragile X Syndrome
Safety and Efficacy of AFQ056 in Adolescent Patients With Fragile X Syndrome
This Phase IIb study is designed to assess whether 3 doses of AFQ056 are safe and effective in treating the behavioral symptoms of Fragile X Syndrome.
- Trial name
- NCT01357239
- Testing
- AFQ056
- Where
- 38 sites in United States, Australia and 14 more
- Volunteers
- 139 people
- Sponsor
- Novartis Pharmaceuticals
Hunter Syndrome
Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age
This long-term study will provide Elaprase treatment to children enrolled in this study and will utilize data from both enrolled patients and Hunter Outcome Survey (HOS) patient registry data to conduct the primary growth…
- Trial name
- NCT02455622
- Testing
- Elaprase for intravenous (IV) infusion
- Where
- 8 sites in United States, Dominican Republic and 6 more
- Volunteers
- 21 people
- Sponsor
- Shire
Thalassemia, Sickle Cell Disease
Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation
Allogeneic blood and marrow transplantation remains the only viable cure for children who suffer from many serious non-malignant hematological diseases. Transplantation, however, carries a high risk of fatal complications.
- Conditions
- Thalassemia, Sickle Cell Disease, Glanzmann Thrombasthenia, Wiskott-Aldrich Syndrome
- Trial name
- NCT01319851
- Testing
- Alefacept
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Emory University
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
Duchenne Muscular Dystrophy
Trial of Pamrevlumab (FG-3019), in Non-Ambulatory Participants With Duchenne Muscular Dystrophy (DMD)
This is a Phase 2, open-label, single arm trial of pamrevlumab (FG-3019) to estimate pamrevlumab's safety and efficacy in non-ambulatory participants with DMD.
- Trial name
- MISSION (NCT02606136)
- Testing
- Pamrevlumab
- Where
- 10 sites in United States
- Volunteers
- 21 people
- Sponsor
- Kyntra Bio
Duchenne Muscular Dystrophy
Clinical Trial to Evaluate the Efficacy, Safety, and Tolerability of RO7239361 in Ambulatory Boys With Duchenne Muscular Dystrophy
This is a multi-center, randomized, double-blind, placebo-controlled study to assess the efficacy, safety and tolerability of two different weekly doses of RO7239361 in ambulatory boys with Duchenne Muscular Dystrophy (DMD).
- Trial name
- NCT03039686
- Testing
- RO7239361
- Where
- 44 sites in United States, Argentina and 11 more
- Volunteers
- 166 people
- Sponsor
- Hoffmann-La Roche
Fabry Disease
Extension Study of PRX-102 for up to 60 Months
To evaluate the ongoing safety, tolerability, and efficacy parameters of PRX-102 in adult Fabry patients who have successfully completed treatment with PRX-102 in studies PB-102-F01 and PB-102-F02.
- Trial name
- NCT01981720
- Testing
- PRX-102 (pegunigalsidase alfa)
- Where
- 8 sites in United States, Paraguay and 2 more
- Volunteers
- 15 people
- Sponsor
- Protalix
Mucopolysaccharidosis I, Mucopolysaccharidosis II
Clinical Trial of Growth Hormone in MPS I, II, and VI
The purpose of this study is to determine whether growth hormone is a safe and effective treatment for short stature in children with Mucopolysaccharidosis type I, II, and VI.
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis VI
- Trial name
- NCT00748969
- Testing
- Somatropin (DNA origin)
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Duchenne Muscular Dystrophy
An Extension Study to Assess Vamorolone in Boys With Duchenne Muscular Dystrophy (DMD)
The main purposes of this study are to see if it is safe to use a new medication called vamorolone for more than two weeks in children with Duchenne muscular dystrophy (DMD), to see if vamorolone works for the treatment for DMD…
- Trial name
- NCT02760277
- Testing
- Vamorolone 0.25 mg/day/day, Vamorolone 0.75 mg/day/day, Vamorolone 2.0 mg/day/day
- Where
- 12 sites in United States, Australia and 4 more
- Volunteers
- 48 people
- Sponsor
- ReveraGen BioPharma, Inc.
Duchenne Muscular Dystrophy
Historically Controlled Trial of Corticosteroids in Young Boys With Duchenne Muscular Dystrophy
While it has been known for many years that corticosteroid use benefits boys with Duchenne Muscular dystrophy (DMD), most clinicians do not consider treating until after age 3 or 4 years of age.
- Trial name
- NCT02167217
- Testing
- Prednisolone
- Where
- 6 sites in United States
- Volunteers
- 25 people
- Sponsor
- Washington University School of Medicine
Fabry Disease, Chronic Kidney Disease, Stage IV (Severe)
Severe Renal Disease Study in Fabry Patients Treated With Fabrazyme
This study was designed to determine appropriate treatment with Fabrazyme at a biweekly dose of either 1 mg/kg or 3 mg/kg in a population of patients with severe renal disease burden.
- Trial name
- NCT00837824
- Testing
- Fabrazyme (agalsidase beta)
- Where
- 9 sites in United States
- Volunteers
- 20 people
- Sponsor
- Genzyme, a Sanofi Company
Fabry Disease
A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease
People with Fabry Disease have an alteration in their genetic material (DNA) which causes a deficiency of the alpha-galactosidase A enzyme.
- Trial name
- NCT00081497
- Testing
- agalsidase beta
- Where
- 25 sites in United States, Canada and 4 more
- Volunteers
- 67 people
- Sponsor
- Genzyme, a Sanofi Company