Have you or your loved ones been diagnosed with central core disease?

You may be eligible to participate in a central core disease clinical trial.

Have you or your loved ones been diagnosed with central core disease? You may be eligible to participate in a central core disease clinical trial.

What is a clinical trial? Is participating in a clinical trial right for you? Learn more

Central Core Disease Clinical Trial in Boston MA

NCT00272883 | Observational

Have you or your loved ones been diagnosed with central core disease?

You may be eligible to participate in a central core disease clinical trial.

Have you or your loved ones been diagnosed with central core disease? You may be eligible to participate in a central core disease clinical trial.

Recruiting

Male & Female

All ages

This study is looking to recruit 4000 Participants

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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Details for the study

Population

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

Brief Title

Molecular and Genetic Studies of Congenital Myopathies

Official Title

Molecular Analysis of Neuromuscular Disease

Brief Summary

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

Detailed Description

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.

Outcome Measures

Outcome measures are the tests that investigators perform to prove whether or not a treatment being tested in a clinical trial is having any effect.

Primary

Identification of Neuromuscular Disease Genes

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

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

Secondary

Characterization of Clinical Features of Congenital Myopathies

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

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

Study Criteria

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.