X-linked myotubular and centronuclear myopathies.
Christopher R Pierson, Kinga Tomczak, Pankaj Agrawal...
https://pubmed.ncbi.nlm.nih.gov/16042307Actively Recruiting
All Genders
ID00272883
Molecular and Genetic Studies of Congenital Myopathies at Boston Children's Hospital
Led by Boston Children's Hospital · Updated on 2026-03-25
4000
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
B
Boston Children's Hospital
Lead Sponsor
M
Muscular Dystrophy Association
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are studying congenital myopathies, a group of neuromuscular diseases present from birth, including central core disease, centronuclear/myotubular myopathy, congenital fiber type disproportion, multiminicore disease, nemaline myopathy, rigid spine muscular dystrophy, SELENON (SEPN1) myopathy, RYR1 myopathy, ADSS1 (ADSSL) myopathy, and other undefined congenital myopathies. The goal is to better understand the genes and proteins involved in muscle function and disease to improve diagnosis and treatment in the future. The study involves identifying and describing new genes and proteins related to skeletal muscles and detecting genetic changes that cause neuromuscular diseases. Researchers study how these mutations are inherited in families and how they lead to muscle weakness. Participants with congenital myopathies provide medical records, blood or saliva samples, and muscle tissue samples if available. Family members are also invited to donate blood samples to help understand disease inheritance. Participants contribute medical records and biological samples for genetic and muscle tissue studies. The research team examines gene expression and protein levels to correlate with clinical symptoms. The main outcome is identifying genes responsible for neuromuscular diseases, a process that can take from several days to decades. The study welcomes participants worldwide, does not require travel to Boston, and participation is free of charge.
CONDITIONS
Brief Title
Molecular and Genetic Studies of Congenital Myopathies
Who Can Participate
All Genders
Eligibility Criteria
You may qualify if you...
- Individuals with a clinical or suspected diagnosis of a congenital myopathy
- Family members of individuals with a congenital myopathy
You will not qualify if you...
- Individuals diagnosed with myotonia congenita or related conditions
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.
Sample Collection
Duration - Variable, depending on participant availability
Participants provide medical records and donate blood or saliva samples for genetic analysis. Participants with congenital myopathies may also provide muscle tissue samples if available. Family members donate blood samples for genetic study.
1 or more visits for sample donation and medical record collection
Long-term Monitoring
Duration - Several days to several decades
Participants' genetic data and clinical features are studied over an extended period to identify neuromuscular disease genes and understand genotype-phenotype correlations.
Periodic assessments depending on research progress and participant involvement
Trial Site Locations
Total: 1 location
1
Genetics Division, Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
Loading map...
Research Team
C
Casie Genetti, M.S. C.G.C.
B
Beggs lab
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
Similar Trials
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here
Published Research Related To This Trial
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.
Pankaj B Agrawal, Corinne D Strickland, Charles Midgett...
https://pubmed.ncbi.nlm.nih.gov/15236405Clinical course correlates poorly with muscle pathology in nemaline myopathy.
M M Ryan, B Ilkovski, C D Strickland...
https://pubmed.ncbi.nlm.nih.gov/12601110Nemaline myopathy: a clinical study of 143 cases.
M M Ryan, C Schnell, C D Strickland...
https://pubmed.ncbi.nlm.nih.gov/11558787Molecular classification of nemaline myopathies: "nontyping" specimens exhibit unique patterns of gene expression.
Despina Sanoudou, Leslie A Frieden, Judith N Haslett...
https://pubmed.ncbi.nlm.nih.gov/15056467Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle.
Despina Sanoudou, Judith N Haslett, Alvin T Kho...
https://pubmed.ncbi.nlm.nih.gov/12677001Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy.
D Wattanasirichaigoon, K J Swoboda, F Takada...
https://pubmed.ncbi.nlm.nih.gov/12196661Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
K J Nowak, D Wattanasirichaigoon, H H Goebel...
https://pubmed.ncbi.nlm.nih.gov/10508519A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.
K N North, N Yang, D Wattanasirichaigoon...
https://pubmed.ncbi.nlm.nih.gov/10192379Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
K Pelin, P Hilpelä, K Donner...
https://pubmed.ncbi.nlm.nih.gov/10051637