Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
Madhurima Saha, Hemakumar M Reddy, Mustafa A Salih...
https://pubmed.ncbi.nlm.nih.gov/30345904Actively Recruiting
Age: 1Week - 100Years
All Genders
ID00390104
Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members
Led by Boston Children's Hospital · Updated on 2023-04-24
1000
Participants Needed
1
Research Sites
52 weeks
Total Duration
On this page
Sponsors
B
Boston Children's Hospital
Lead Sponsor
N
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are investigating genes responsible for various neuromuscular diseases including Duchenne muscular dystrophy, Becker muscular dystrophy, and limb-girdle muscular dystrophy. The study aims to identify new genes linked to these disorders and understand muscle tissue abnormalities in patients and their family members. This research hopes to improve diagnosis, prognosis, and potential therapies by exploring the genetic and biochemical basis of these conditions. Participants include individuals diagnosed with neuromuscular diseases or their first-degree relatives. The study involves collecting muscle and skin biopsy samples to analyze molecular and pathological features. The research lab has previously identified genes related to neuromuscular diseases, aiding in diagnostic development and understanding disease progression. During the study, participants provide tissue samples such as muscle biopsies and skin biopsies for research purposes. Researchers perform genetic and biochemical analyses to explore disease mechanisms and gene correlations. The study helps advance knowledge of neuromuscular disorders and supports the development of better diagnostic tests and treatments. Participation may continue over an extended period to gather sufficient data.
CONDITIONS
Brief Title
Molecular Analysis of Patients With Neuromuscular Disease
Who Can Participate
Age: 1Week - 100Years
All Genders
Eligibility Criteria
You may qualify if you...
- Having a clinical and/or pathological diagnosis of a muscular dystrophy
- Being the first degree relative of someone with such a diagnosis
- Having had a muscle biopsy if diagnosed with a neuromuscular disease
- Willingness to provide a skin biopsy for research only
You will not qualify if you...
- Not having a neuromuscular diagnosis in you or a family member
- Not wishing to participate
- Being incapable of giving consent and not having a legal guardian willing or able to do so
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Diagnostic Evaluation
Duration - Varies depending on sample collection and analysis schedules
Participants provide muscle and skin biopsy samples for molecular and biochemical analysis to understand neuromuscular diseases.
1 or more visits depending on sample collection needs
Long-term Monitoring
Duration - Up to several years depending on participant involvement
Participants may be observed over time to study the natural history and progression of neuromuscular diseases.
Periodic visits as needed for follow-up assessments
Trial Site Locations
Total: 1 location
1
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
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Research Team
E
Elicia A Estrella, MS, LCGC
C
Casie Genetti, MS,LCGC
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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Published Research Related To This Trial
Repression of phosphatidylinositol transfer protein α ameliorates the pathology of Duchenne muscular dystrophy.
Natassia M Vieira, Janelle M Spinazzola, Matthew S Alexander...
https://pubmed.ncbi.nlm.nih.gov/28533404The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
Hemakumar M Reddy, Kyung-Ah Cho, Monkol Lek...
https://pubmed.ncbi.nlm.nih.gov/27708273