Clinical trials: Rare Genetic Muscle Diseases
Duchenne Muscular Dystrophy, Burden, Dependency
Your Voice; Impact of Duchenne Muscular Dystrophy (DMD) on the Lives of Families
The purpose of this study is to improve the understanding of the treatment goals that a person with Duchenne Muscular Dystrophy (DMD) or the caregiver may be most interested in, based on the severity of the person's disease.
- Conditions
- Duchenne Muscular Dystrophy, Burden, Dependency, Disability Physical, Disease Management
- Trial name
- NCT03680365
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Jett Foundation, Inc.
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Rare Diseases, Marfan Syndrome
Analysis of Muscular Properties in Patients With MFS and EDS
The goal of this observational study is to learn and assess muscle morphological and electromechanical properties in patients affected with Marfan syndrome (MFS) and Ehlers Danlos syndrome (EDS).
- Conditions
- Rare Diseases, Marfan Syndrome, Ehlers-Danlos Syndrome
- Trial name
- MUSCLE (NCT05720923)
- Testing
- Analysis with Ergometer
- Where
- Italy
- Volunteers
- 65 people, healthy volunteers welcome
- Sponsor
- IRCCS Policlinico S. Donato
Spinal Muscular Atrophy Type 3, Duchenne Muscular Dystrophy (DMD)
Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders
The purpose of this research is (1) to identify disease specific walking-related digital biomarkers of disease severity, and (2) monitor longitudinal changes in natural environments, for extended periods of time, in DMD and SMA.
- Trial name
- NCT06839469
- Where
- 3 sites in United States
- Volunteers
- 106 people, healthy volunteers welcome
- Sponsor
- Columbia University
Fragile X Syndrome, Angelman Syndrome
Parent and Infant Inter(X)Action Intervention (PIXI)
The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or…
- Conditions
- Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome
- Trial name
- NCT03836300
- Testing
- Parent-Infant Inter(X)action Intervention (PIXI)
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- RTI International