Clinical trials: Genetic Diseases, X-Linked
Duchenne Muscular Dystrophy (DMD)
E-monitoring of PULMonary Function in Patients With Duchenne Muscular Dystrophy at Home"
Duchenne muscular dystrophy (DMD) is the most common, progressive, irreversible muscular dystrophy. The pulmonary function is crucial for the duration of life in this disease.
- Trial name
- E-PULMoDMD (NCT05516745)
- Testing
- AioCare spirometer, telerehabiliation of the respiratory system
- Where
- Poland
- Volunteers
- 200 people
- Sponsor
- Medical University of Gdansk
Fabry Disease
Study of the Spermatic Characteristics of Patients With Fabry Disease
The objective of this project is to estimate the prevalence of spermatic abnormalities in patients with Fabry disease.The main objective of this project is to estimate the prevalence of spermatic abnormalities in patients with…
- Trial name
- FERTIFABRY (NCT04073888)
- Testing
- Semen collection
- Where
- France
- Volunteers
- 22 people
- Sponsor
- University Hospital, Bordeaux
X-linked Hypophosphatemia, Hypophosphatemic Rickets
Calcitriol Monotherapy for X-Linked Hypophosphatemia
Children and adults with XLH recruited will be treated with calcitriol alone (without phosphate supplementation) for one year, during which the calcitriol dose will be escalated during the first 3 months of therapy.
- Conditions
- X-linked Hypophosphatemia, Hypophosphatemic Rickets, Hypophosphatemic Rickets, X-Linked Dominant
- Trial name
- NCT03748966
- Testing
- Calcitriol
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Massachusetts General Hospital
Intracranial Hemorrhage, Traumatic, Intracranial Hemorrhage, Spontaneous
FFP Versus PCC in Intracranial Hemorrhage
The goal of this study will be to determine whether PCC confers any benefits over FFP in traumatic and spontaneous intracranial hemorrhage with respect to multiple factors including time to correction, absolute international…
- Trial name
- NCT02429453
- Testing
- Four Factor Prothrombin Complex Concentrate, Fresh Frozen Plasma
- Where
- United States
- Sponsor
- University of Utah
Hunter Syndrome, Mucopolysaccharidosis II
Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy
The objective of this study is to determine the safety of once weekly dosing of idursulfase 0.5 mg/kg administered by intravenous (IV) infusion for male Hunter syndrome patients ≤ 5 years old.
- Conditions
- Hunter Syndrome, Mucopolysaccharidosis II, MPS II
- Trial name
- NCT00607386
- Testing
- Idursulfase
- Where
- 3 sites in Brazil, Poland and 1 more
- Volunteers
- 28 people
- Sponsor
- Shire
Duchenne Muscular Dystrophy
An Open-Label Extension Study of Edasalonexent in Boys With Duchenne Muscular Dystrophy
The GalaxyDMD study is a global Phase 3, open-label, treatment extension study to evaluate the safety, tolerability, and durability of effect in long-term dosing of edasalonexent in pediatric patients with a genetically confirmed…
- Trial name
- GalaxyDMD (NCT03917719)
- Testing
- Edasalonexent
- Where
- 23 sites in United States, Australia and 4 more
- Volunteers
- 130 people
- Sponsor
- Catabasis Pharmaceuticals
Fabry Disease
Effect of Agalsidase Alfa on Cardiac Inflammation in Patients With Fabry Disease: A [18F]-FDG PET-CMR Study
This is a prospective observational study. All patients will initiate and maintain treatment with agalsidase alfa during the study period.
- Trial name
- NCT07235709
- Where
- South Korea
- Volunteers
- 25 people
- Sponsor
- Yonsei University
Muscular Dystrophies
A Clinical Study to Assess Two Doses of GSK2402968 in Subjects With Duchenne Muscular Dystrophy (DMD)
The purpose of this study is to determine if GSK2402968 is effective in the treatment of ambulant boys with Duchenne muscular dystrophy resulting from a mutation thought to be corrected by exon 51 skipping.
- Trial name
- DMD114876 (NCT01462292)
- Testing
- GSK2402968 3mg/kg/week, GSK2402968 6 mg/kg/week
- Where
- 14 sites in United States
- Volunteers
- 51 people
- Sponsor
- GlaxoSmithKline
Hemophilia B
Lead-in Study of VGB-R04 Gene Therapy for Hemophilia B-- An Observational Survey Analysis Study
This is a prospective, open, multicenter, observational lead-in study，to collect prospective efficacy and safety data of current replacement therapy in adult hemophilia B patients.
- Trial name
- NCT05442528
- Volunteers
- 20 people
- Sponsor
- Shanghai Vitalgen BioPharma Co., Ltd.
Mucopolysaccharidosis Type II, Metabolic Diseases
A Multi-cohort Study of Safety, Efficacy, PK and PD of GNR-055 in Patients With Mucopolysaccharidosis Type II
This is phase 2/3 study to evaluate the safety, pharmacokinetics, pharmacodynamics, and efficacy of the investigational product GNR-055 in MPS II (Hunter syndrome) patients of different age groups.
- Trial name
- NCT05208281
- Testing
- GNR-055 1.0-2.0-3.0 mg/kg, GNR-055 2.0 mg/kg, GNR-055 3.0 mg/kg
- Where
- 5 sites in Russia
- Volunteers
- 32 people
- Sponsor
- AO GENERIUM
Duchenne Muscular Dystrophy
Effect of Kinesiology Taping on Head and Trunk Control in Children With Duchenne Muscular Dystrophy
Muscular dystrophy (MD) is a group of muscle diseases that results in increasing weakening and breakdown of skeletal muscles over time.
- Trial name
- NCT05967793
- Testing
- kinesio tape
- Where
- Egypt
- Volunteers
- 30 people
- Sponsor
- Egyptian Chinese University
Fragile X Syndrome
An Open-Label Trial of Donepezil in Fragile X Syndrome
Fragile X syndrome is the most common known inherited cause of neurodevelopmental disability. Functional magnetic resonance imaging (fMRI) studies from our laboratory indicate that specific brain regions using the neurochemical…
- Trial name
- NCT00220584
- Testing
- donepezil
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Stanford University
Fabry Disease
Cardiovasculorenal Phenotyping in Fabry Disease Through Noninvasive Testing
A longitudinal pilot study will be conducted to determine if there are additional testing modalities that are effective in broadly phenotyping subclinical dysfunction in patients with Fabry disease.
- Trial name
- VDFP (NCT05699265)
- Testing
- Measures of arterial stiffness and endothelial function, Ambulatory blood pressure monitoring, Cardiopulmonary exercise testing (CPET)
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Barth Syndrome
Heart and Muscle Metabolism in Barth Syndrome
Barth syndrome (BTHS) is an X-linked disorder caused by abnormal cardiolipin metabolism and is characterized by skeletal and cardiomyopathy and high mortality rates.
- Trial name
- NCT01625663
- Where
- United States
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Duke University
Duchenne Muscular Dystrophy
Heart Rate Variability in Duchenne Muscular Dystrophy During Computer Task
HRV is attained using a Polar RS800CX. Then, evaluated through linear, non-linear and chaotic global techniques (CGT). Forty-five male subjects were included in the DMD group and age-matched with forty-five in the healthy Typical…
- Trial name
- NCT04607824
- Testing
- Duchenne Muscular Dystrophy group, Typical Development group
- Where
- Brazil
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- University of Sao Paulo
Fragile X Syndrome (FXS), Autism Spectrum Disorder (ASD)
A Study to Investigate the Effects and Safety of Codabakalner for the Treatment of FXS in Male Participants and Adult Participants With ADS
This is a Study to Investigate the Effects and Safety of Codabakalner for the Treatment of Fragile X Syndrome in Male Participants and Adult Participants with Autism Spectrum Disorders
- Trial name
- NCT07439510
- Testing
- Codabakalner
- Volunteers
- 120 people
- Sponsor
- Spinogenix
Libido, Receptors, Androgen
Genetic Polymorphism of the Androgen Receptor-Gene and Sexual Function in Middle Aged Women
It is known that with increasing age sexual desire is declining in women. Decreasing levels of androgens are believed to have an influence, but cannot explain the loss of libido completely.
- Conditions
- Libido, Receptors, Androgen, Polymorphism, Genetic, Androgen Effect
- Trial name
- CAG-Libido (NCT01977313)
- Where
- Switzerland
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Duchenne Muscular Dystrophy (DMD)
A Study to Evaluate the Safety and Tolerability of GEN6050X in Duchenne Muscular Dystrophy.
The study will evaluate the safety and tolerability of GEN6050X gene therapy in Duchenne muscular dystrophy (DMD) patients amenable to exon 50 skipping.
- Trial name
- GEN6050XIIT (NCT06392724)
- Testing
- GEN6050X intravenous injection
- Where
- China
- Volunteers
- 3 people
- Sponsor
- Peking Union Medical College Hospital
Duchenne Muscular Dystrophy
AFFINITY BEYOND: Anti-AAV8 Antibody Assessment Study of Males With DMD
This is an observational screening study to evaluate the prevalence of anti-adeno-associated serotype 8 (AAV8) antibodies in participants with Duchenne muscular dystrophy (DMD).
- Trial name
- NCT05683379
- Testing
- AAV8 DetectCDx
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- REGENXBIO Inc.
Duchenne Muscular Dystrophy (DMD)
A Study in Participants With Duchenne Muscular Dystrophy Amenable to Exon 44 Skipping to Evaluate the Safety and Efficacy of ENTR-601-44
This is a study of the investigational medicine ENTR-601-44 in participants who have Duchenne muscular dystrophy (DMD), a rare genetic condition.
- Trial name
- ELEVATE-44 (NCT07037862)
- Testing
- ENTR-601-44
- Where
- 14 sites in Belgium, Italy and 2 more
- Volunteers
- 24 people
- Sponsor
- Entrada Therapeutics, Inc.