Clinical trials: X-Linked
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 (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
X-linked Hypophosphatemia
Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH)
The primary objective of this study is to establish the effect of KRN23 treatment on improvement in XLH-associated osteomalacia as determined by osteoid volume (osteoid volume/bone volume, OV/BV).
- Trial name
- NCT02537431
- Testing
- burosumab
- Where
- 14 sites in United States, Canada and 4 more
- Volunteers
- 14 people
- Sponsor
- Kyowa Kirin, Inc.
Duchenne Muscular Dystrophy
Stacking Exercises Aid the Decline in FVC and Sick Time
Duchenne Muscular Dystrophy is complicated by weak breathing muscles and lung infections. "Lung volume recruitment" is a technique performed using a face mask or mouthpiece and a hand-held resuscitation bag to stack breaths…
- Trial name
- STEADFAST (NCT01999075)
- Testing
- Lung Volume Recruitment (LVR), Conventional Treatment
- Where
- 9 sites in Canada
- Volunteers
- 70 people
- Sponsor
- Children's Hospital of Eastern Ontario
Hypophosphatemic Rickets, Growth Disorders
Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic Rickets
X-linked hypophosphatemic rickets (XLH) is characterized by rickets, disproportionate short stature, impaired renal phosphate reabsorption and vitamin D metabolism.
- Conditions
- Hypophosphatemic Rickets, Growth Disorders, Somatropin Therapy
- Trial name
- NCT00473187
- Testing
- somatropin
- Where
- Germany
- Sponsor
- University of Rostock
Hunter Syndrome
Hunter Outcome Survey (HOS)
The purpose of this study is to collect data that will increase understanding of Hunter syndrome. The data from HOS may provide guidance to healthcare professionals about disease treatment options.
- Trial name
- HOS (NCT03292887)
- Where
- United States
- Volunteers
- 1,443 people
- Sponsor
- Shire
Duchenne Muscular Dystrophy
AAV9 U7snRNA Gene Therapy to Treat Boys With DMD Exon 2 Duplications.
Open-label, single dose clinical trial of scAAV9.U7.ACCA via peripheral limb vein injection for Duchenne muscular dystrophy boys who have a duplication of exon 2.
- Trial name
- NCT04240314
- Testing
- scAAV9.U7.ACCA
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Megan Waldrop
Immunodeficiency, Hematopoietic Stem Cell Transplantation
A Phase II Study of Allogeneic Hematopoietic Stem Cell Transplant for Subjects With VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) Syndrome
Background: Allogeneic hematopoietic stem cell transplant involves taking blood stem cells from a donor and giving them to a recipient. The transplants are used to treat certain diseases and cancers.
- Trial name
- NCT05027945
- Testing
- Allogeneic HSCT, Busulfan test dose, Mycophenolate mofetil (MMF)
- Where
- United States
- Volunteers
- 54 people
- Sponsor
- National Cancer Institute (NCI)
Fabry Disease
Migalastat Food Effect Study
A 5-period crossover study to evaluate the effect of meal type and timing on migalastat HCl pharmacokinetics in healthy male and female subjects.
- Trial name
- NCT01489995
- Testing
- A (migalastat), B (migalastat), C (migalastat)
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Amicus Therapeutics
Fabry Disease
Data Collection in Women With Fabry Disease
This protocol will collect information needed to design a clinical study for the symptoms and problems of women with Fabry disease, an inherited metabolic disorder.
- Trial name
- NCT00030134
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Rare Diseases, Fabry Disease
Evaluation of HEArt invoLvement in Patients With FABRY Disease
This study evaluates predictors for the incidence of arrhythmias and sudden cardiac death as well as terminal heart failure in patients with Fabry disease.
- Conditions
- Rare Diseases, Fabry Disease, Fabry Disease, Cardiac Variant, Hypertrophic Cardiomyopathy
- Trial name
- HEAL-FABRY (NCT03362164)
- Where
- Germany
- Volunteers
- 650 people
- Sponsor
- Wuerzburg University Hospital
Duchenne Muscular Dystrophy
The Validation Process for Confirmation of the French Version of the Pediatric Quality of Life Inventory :PedsQLTM.
There isn't specific Health related quality of life measure for children with DMD in French. The aim of this study is to validate the French version of the Pediatric Quality of Life Inventory 3.0 Duchenne Muscular Dystrophy…
- Trial name
- ValPedsQLDMD (NCT03513367)
- Testing
- Duchenne Muscular Dystrophy of the PedsQL ™ 3.0 scale, The following data of motor function
- Where
- France
- Volunteers
- 210 people, healthy volunteers welcome
- Sponsor
- University Hospital, Toulouse
Haemophilia B
An Open Study to Investigate the Safety and Efficacy of Replenine®-VF in Severe Haemophilia B Patients
To compare the first and second recovery assessments on Replenine®-VF and to evaluate recovery of different batches if patients changed batches during the study.
- Trial name
- NCT02231944
- Testing
- Replenine®-VF (High Purity Factor IX)
- Where
- 7 sites in Poland, United Kingdom
- Sponsor
- Bio Products Laboratory
Atherosclerosis, Chronic Granulomatous Disease (CGD)
Non-Invasive Assessment of Atherosclerosis in Patients With CGD and Other Disorders of the Immune System
Background: Atherosclerosis, the arterial plaques or blockages that cause heart disease, develops in many people by the time they are in their mid-20s.
- Trial name
- NCT01063309
- Where
- United States
- Volunteers
- 156 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including, Sickle Cell Disease
Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma.
- Conditions
- Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including, Sickle Cell Disease, Cystic Fibrosis, Fragile X Syndrome
- Trial name
- DANNIgene (NCT06147414)
- Testing
- Blood sample
- Where
- France
- Volunteers
- 550 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
Revatio for Heart Disease in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy
This study, supported by Charley's Fund, Inc., is being done to determine if the drug Revatio®(also known as Sildenafil), as compared to placebo (an inactive substance that looks like the study drug, but contains no medication)…
- Trial name
- REVERSE-DBMD (NCT01168908)
- Testing
- Sildenafil
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Duchenne Muscular Dystrophy
A Study of EDG-5506 in Children With Duchenne Muscular Dystrophy (LYNX)
The LYNX study is a 2-part, multicenter, Phase 2 study of safety, pharmacokinetics and biomarkers in children with Duchenne muscular dystrophy including a randomized, double-blind, placebo-controlled part A, followed by an…
- Trial name
- NCT05540860
- Testing
- Sevasemten Dose 1, Sevasemten Dose 2, Sevasemten Dose 3
- Where
- 14 sites in United States
- Volunteers
- 76 people
- Sponsor
- Edgewise Therapeutics, Inc.
Duchenne Muscular Dystrophy
Extension Study of Drisapersen in DMD Subjects
This is a phase IIIb, multi-centre, open-label extension study in male subjects with DMD who previously have been treated with drisapersen, aiming at assessing the safety and efficacy of drisapersen.
- Trial name
- NCT02636686
- Testing
- Drisapersen
- Where
- 39 sites in United States, Argentina and 18 more
- Sponsor
- BioMarin Pharmaceutical
Chronic Granulomatous Disease, Infection
NADPH Oxidase Correction in mRNA-transfected Granulocyte-enriched Cells in Chronic Granulomatous Disease (CGD)
Background: CGD is caused by a gene mutation. For people with CGD, their cells cannot kill germs well, so they can get frequent or life-threatening infections.
- Trial name
- NCT05189925
- Testing
- gp91 Grans
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease
An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency
Ornithine Transcarbamylase (OTC) deficiency, the most common urea cycle disorder, is an inherited metabolic disorder caused by a genetic defect in a liver enzyme responsible for detoxifying of ammonia.
- Conditions
- Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease, Ornithine Carbamoyltransferase Deficiency (Disorder), Urea Cycle Disorders, Inborn
- Trial name
- NCT06255782
- Testing
- ECUR-506
- Where
- 12 sites in United States, Australia and 2 more
- Volunteers
- 20 people
- Sponsor
- iECURE, Inc.
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