RECRUITING

Molecular and Genetic Studies of Congenital Myopathies

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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

Official Title

Molecular Analysis of Neuromuscular Disease

Quick Facts

Study Start:2003-08
Study Completion:2050-01
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT00272883

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Individuals with a clinical or suspected diagnosis of a congenital myopathy and their family members
  1. * No specific exclusion criteria. Our studies do not include myotonia congenita or related conditions.

Contacts and Locations

Study Contact

Casie Genetti, M.S. C.G.C.
CONTACT
(617) 919-2169
BeggsLabGC@childrens.harvard.edu
Beggs lab
CONTACT
beggslab@enders.tch.harvard.edu

Principal Investigator

Alan H. Beggs, Ph.D.
PRINCIPAL_INVESTIGATOR
Children's Hospital Boston/Harvard Medical School

Study Locations (Sites)

Genetics Division, Boston Children's Hospital
Boston, Massachusetts, 02115
United States

Collaborators and Investigators

Sponsor: Boston Children's Hospital

  • Alan H. Beggs, Ph.D., PRINCIPAL_INVESTIGATOR, Children's Hospital Boston/Harvard Medical School

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2003-08
Study Completion Date2050-01

Study Record Updates

Study Start Date2003-08
Study Completion Date2050-01

Terms related to this study

Keywords Provided by Researchers

  • central core
  • centronuclear
  • multiminicore
  • multicore
  • minicore
  • congenital fiber type disproportion
  • myotubular
  • nemaline
  • congenital myopathy
  • neuromuscular
  • rigid spine

Additional Relevant MeSH Terms

  • Central Core Disease
  • Centronuclear Myopathy
  • Congenital Fiber Type Disproportion
  • Multiminicore Disease
  • Myotubular Myopathy
  • Nemaline Myopathy
  • Rigid Spine Muscular Dystrophy
  • Undefined Congenital Myopathy