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NCT Number: NCT00272883

Molecular and Genetic Studies of Congenital Myopathies

In the Congenital Myopathy Research Program at Boston Children's Hospital and Harvard Medical School, the researchers are studying the congenital myopathies (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), RYR1 myopathy, ADSS1 (ADSSL) Myopathy and undefined congenital myopathies. The primary goal of the research is to better understand the genes and proteins (gene products) involved in muscle functioning and disease. The researchers hope that our studies will allow for improved diagnosis and treatment of individuals with congenital myopathies in the future. For more information, visit the Laboratory Website at www.childrenshospital.org/research/beggs

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Key information

Conditions

Central Core Disease Centronuclear Myopathy Congenital Fiber Type Disproportion Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Minicore Myopathy with External Ophthalmoplegia Multiminicore Disease Muscular Diseases Musculoskeletal Diseases Myopathies, Nemaline Myopathies, Structural, Congenital Myopathy, Central Core Myotonia Congenita Myotonic Disorders Myotubular Myopathy Nemaline Myopathy Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Rigid Spine Muscular Dystrophy Undefined Congenital Myopathy

Sex eligibility

All sexes

Study type

Observational

Primary location

Genetics Division, Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Location status: Recruiting

Location contact

Alan H. Beggs, Ph.D.

PRINCIPAL_INVESTIGATOR

Casie Genetti, M.S. C.G.C.

CONTACT

[email protected]

(617) 919-2169

About this study

The Congenital Myopathy Research Program consists of a group of scientists and healthcare providers all working to better understand the congenital myopathies. We are taking two approaches to reach our research goals. The first involves identifying and describing new genes and proteins involved in the skeletal muscles that allow our bodies to move. Simultaneously, studies are underway to identify genetic changes (mutations) that cause human neuromuscular disease. Thus, our second approach is to identify mutations, learn how they are inherited in families, and understand how they lead to weakness in individuals with neuromuscular disease. These approaches allow correlation of our basic muscle biology findings with our studies on muscle tissue of affected individuals.

Our research would not be possible without the generous participation of individuals and families with congenital myopathies. Participation in our studies is free of charge. Travel to Boston is not required, and we welcome the participation of individuals from around the world.

We appreciate the participation of all individuals with a congenital myopathy, as well as their first-degree relatives. Participants with a congenital myopathy are asked to donate medical records, a blood or saliva sample, and a muscle tissue sample (if available). Participating relatives are asked to donate a blood sample. The blood/saliva sample is used to acquire DNA (genetic material) which can be used to identify genetic changes and to study how a disease is inherited in a family. The medical records are employed to understand a participant's symptoms. The muscle tissue is used to better understand the disease at the muscular level by studying the gene expression and protein levels in individuals with congenital myopathies.

For more information, visit the Laboratory Website at www.childrenshospital.org/research/beggs.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Individuals with a clinical or suspected diagnosis of a congenital myopathy and their family members

Exclusion criteria

  • No specific exclusion criteria. Our studies do not include myotonia congenita or related conditions.

Treatment and study plan

Primary outcomes

  1. Identification of Neuromuscular Disease Genes

    Time frame: The time frame for disease gene discovery is unpredictable and may range from several days to several decades.

    This is an ongoing genetic discovery study aimed at finding and confirming pathogenic mutations in known and new disease genes.

Secondary outcomes

  1. Characterization of Clinical Features of Congenital Myopathies

    Time frame: The time frame for disease classification and genotype-phenotype correlation is unpredictable and may range from several days to several decades.

    As known as known and new disease genes are identified the resulting genotypes are correlated with subject phenotypes.

Study contacts

Contact information is provided by the study sponsor or research team.

Beggs lab

CONTACT

[email protected]

Casie Genetti, M.S. C.G.C.

CONTACT

[email protected]

(617) 919-2169

Sponsors and collaborators

Lead sponsor

Boston Children's Hospital

Other

Collaborators

  • Muscular Dystrophy Association

Registry information

Official study title

Molecular Analysis of Neuromuscular Disease

Important dates

Study start
2003
Primary completion
2050
Study completion
2050
First posted
Jan 9, 2006
Registry last updated
Mar 25, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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