Clinical trials: X-Linked
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
Hemophilia, Hemophilia A
ATHN 8: Previously Untreated Patients (PUPs) Matter Study
This is a multi-center cohort study of approximately 250 previously untreated patients (PUPs) with congenital moderate to severe hemophilia A or B in a network of up to 50 US Hemophilia Treatment Centers (HTCs).
- Conditions
- Hemophilia, Hemophilia A, Hemophilia B, Hemophilia A With Inhibitor
- Trial name
- NCT03818529
- Where
- 27 sites in United States
- Volunteers
- 237 people
- Sponsor
- American Thrombosis and Hemostasis Network
Muscular Dystrophy, Duchenne
Study of Fordadistrogene Movaparvovec in Early Stage Duchenne Muscular Dystrophy
The study will evaluate the safety and dystrophin expression following gene therapy in boys with Duchenne Muscular Dystrophy (DMD). It is a single-arm, non-randomized, open-label study
- Trial name
- NCT05429372
- Testing
- PF-06939926
- Where
- 13 sites in United States, Australia
- Volunteers
- 10 people
- Sponsor
- Pfizer
Muscular Dystrophy, Becker, Muscular Dystrophy
A Multicenter Cohort Study of Duchenne and Becker Muscular Dystrophy in Western Chinese Children
This is a prospective, multicenter, longitudinal observational cohort study aimed at understanding the progression of Duchenne Muscular Dystrophy (DMD).
- Conditions
- Muscular Dystrophy, Becker, Muscular Dystrophy, Muscular Dystrophy (DMD), Muscular Dystrophy, Duchenne
- Trial name
- WEST-DBMD (NCT07511920)
- Testing
- No interventions are applied; participants are followed for natural history observation only
- Where
- China
- Volunteers
- 500 people
- Sponsor
- West China Second University Hospital
Intellectual Disability, Developmental Delay
Biomarker for Creatine Deficiency Syndromes (BioCDS)
Development of a new mass spectrometry-based biomarker for the ear-ly and sensitive diagnosis of the Creatine Deficiency Syndromes from dry-blood-spot sample
- Conditions
- Intellectual Disability, Developmental Delay, Movement Disorder, Behavioral Disorder
- Trial name
- BioCDS (NCT02934854)
- Where
- 4 sites in Egypt, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Becker Muscular Dystrophy
Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping
This is a multi-center natural history study that will be conducted at participating centers in the Cooperative International Neuromuscular Research Group (CINRG).
- Trial name
- NCT01539772
- Where
- 16 sites in United States, Canada and 2 more
- Volunteers
- 85 people
- Sponsor
- Cooperative International Neuromuscular Research Group
Spina Bifida and Anencephaly
Dosage Effects of Folic Acid on Blood Folates of Honduran Women
CDC staff at the National Center on Birth Defects and Developmental Disabilities have been working closely with a Honduras-based organization, Project Healthy Children (PNS) and the Ministry of Health, on a folic acid…
- Trial name
- NCT00207532
- Testing
- folic acid
- Where
- Honduras
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Centers for Disease Control and Prevention
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
Duchenne Muscular Dystrophy
Sleep Intervention in Young Boys with Duchenne Muscular Dystrophy
This project will systematically plan and evaluate the implementation of the Transdiagnostic Sleep and Circadian Intervention for youth (TranS-CY).
- Trial name
- DMD (NCT04529707)
- Testing
- Transdiagnostic Behavioral Sleep Intervention
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- University of Pittsburgh
Rett Syndrome
ANAVEX2-73 Study in Patients With Rett Syndrome
ANAVEX2-73-RS-002 is a Phase 3, double-blind, randomized, placebo-controlled dose escalation safety, tolerability and efficacy study in patients 18 years and older with RTT using endpoints including multiple clinical and…
- Trial name
- AVATAR (NCT03941444)
- Testing
- ANAVEX2-73
- Where
- 7 sites in Australia, United Kingdom
- Volunteers
- 33 people
- Sponsor
- Anavex Life Sciences Corp.
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
Telomeric 22Q13 Monosomy Syndrome, Tuberous Sclerosis
Web Intervention for Parents of Youth With Genetic Syndromes (WINGS)
The purpose of this study is to evaluate the effectiveness of an adapted, telehealth functional behavioral therapy (FBTsIDD) specifically focused on promoting appropriate communication and behavioral strategies in individuals…
- Conditions
- Telomeric 22Q13 Monosomy Syndrome, Tuberous Sclerosis, Hamartoma Syndrome, Multiple, Fragile X Syndrome
- Trial name
- NCT06139172
- Testing
- Functional Behavioral Training (FBT), Positive Parenting Strategies-Treatment as Usual
- Where
- United States
- Volunteers
- 79 people
- Sponsor
- Rush University Medical Center
Chronic Granulomatous Disease
Gene Therapy for X-linked Chronic Granulomatous Disease (CGD) in Children
The aim of the study is to evaluate the side effects and risks after infusion of retroviral gene corrected autologous CD34+ cells of the peripheral blood of chemotherapy conditioned (busulphan) children with chronic granulomatous…
- Trial name
- XCGDinChildren (NCT00927134)
- Testing
- retroviral SF71-gp91phox transduced CD34+ cells
- Where
- Switzerland
- Volunteers
- 2 people
- Sponsor
- University of Zurich
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 (DMD), Lower Urinary Track Symptoms
Effects of Lumbopelvic Stabilization-based Physiotherapy and Rehabilitation Training in Duchenne Muscular Dystrophy
This study aims to examine the effectiveness of supervised lumbopelvic stabilization in relation to factors associated with lower urinary tract symptoms in children diagnosed with Duchenne Muscular Dystrophy (DMD) who have lower…
- Trial name
- NCT06643923
- Testing
- Exercise, Urotherapy
- Where
- Turkey (Türkiye)
- Volunteers
- 34 people
- Sponsor
- Lokman Hekim University
X-linked Hypophosphatemia (XLH)
Effective Dosing of Burosumab in XLH
X-linked hypophosphataemia (XLH) is a rare, hereditary condition. The genetic defect leads to low blood phosphate levels and vitamin D suppression. Phosphate is required for strong bones and teeth and to store energy in cells.
- Trial name
- NCT07183579
- Where
- United Kingdom
- Volunteers
- 120 people
- Sponsor
- University of Nottingham
Fabry Disease
Evaluate the Safety and Efficacy of Fabagal® (Agalsidase Beta) in Patients With Fabry Disease
Evaluate the safety and efficacy of Fabagal® developed by ISU ABXIS Co., Ltd., which has similar efficacy to active comparator (Agalsidase beta).
- Trial name
- NCT06081062
- Testing
- Fabagal® (Agalsidase beta), Active comparator (Agalsidase beta)
- Where
- 3 sites in Philippines, South Korea
- Volunteers
- 24 people
- Sponsor
- ISU Abxis Co., Ltd.
Duchenne Muscular Dystrophy (DMD)
Can External Vagus Nerve Stimulation Reduce Systemic Levels of Inflammatory Mediators in Duchenne Muscular Dystrophy Patients?
The intended investigation is a pilot study to evaluate the safety and efficacy of a novel transcutaneous auricular vagus nerve stimulator system, termed TRAVAGUS ONE, to reduce systemic levels of inflammatory mediators in…
- Trial name
- Travagus One (NCT07543302)
- Testing
- Transcutaneous auricular vagus nerve stimulation
- Where
- Sweden
- Volunteers
- 20 people
- Sponsor
- taVNS AB
Spina Bifida, Neuromuscular Diseases
Metformin in Children With Motor Deficit
Obesity with insulin resistance in the paediatric population provides an increasing challenge. Children with neurological or neuromuscular diseases are even more prone to obesity: their locomotor impairment leads to an…
- Trial name
- NCT00720161
- Testing
- Metformin
- Where
- Belgium
- Volunteers
- 42 people
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Fragile X Syndrome
A Study of BPN14770 in Male Adults (Aged 18 to 45) With Fragile X Syndrome
A Randomized, Double-blind, Placebo-controlled, Parallel Group Study of BPN14770 in Male Adults (Aged 18 to 45) with Fragile X Syndrome
- Trial name
- NCT05358886
- Testing
- BPN14770/ zatolmilast
- Where
- 17 sites in United States
- Volunteers
- 171 people
- Sponsor
- Tetra Discovery Partners
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