RECRUITING

Molecular Analysis of Patients With Neuromuscular Disease

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

The purpose of this study is to identify new genes responsible for neuromuscular disorders and study muscle tissue of patient with known neuromuscular disease, as well as their family members. We are interested in recruiting many types of neuromuscular disease including; Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and limb-girdle muscle dystrophy (LGMD). There are still many patients diagnosed with muscular dystrophy with no causative gene implicated in their disease. Using molecular genetics to unravel basis of these neuromuscular disorders will lead to more accurate diagnosis/prognosis of these disorders which will lead to potential therapies.

Official Title

Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members

Quick Facts

Study Start:2002-01
Study Completion:2027-12-31
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT00390104

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:1 Week to 100 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. 1. having a clinical and/or pathological diagnosis of a muscular dystrophy
  2. 2. being the first degree relative of someone with such a diagnosis
  3. 3. having had a muscle biopsy if diagnosed with a neuromuscular disease
  4. 4. willingness to provide a skin biopsy for research only
  1. 1. not having a neuromuscular diagnosis in you or a family member
  2. 2. not wishing to participate
  3. 3. being incapable of giving consent and not having a legal guardian willing or able to do so

Contacts and Locations

Study Contact

Elicia A Estrella, MS, LCGC
CONTACT
617-919-4552
elicia.estrella@childrens.harvard.edu
Casie Genetti, MS,LCGC
CONTACT
617-919-2169
Casie.Genetti@childrens.harvard.edu

Principal Investigator

Louis M Kunkel, PhD
PRINCIPAL_INVESTIGATOR
Boston Children's Hospital/Harvard Medical School

Study Locations (Sites)

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

Collaborators and Investigators

Sponsor: Boston Children's Hospital

  • Louis M Kunkel, PhD, PRINCIPAL_INVESTIGATOR, Boston Children's Hospital/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 Date2002-01
Study Completion Date2027-12-31

Study Record Updates

Study Start Date2002-01
Study Completion Date2027-12-31

Terms related to this study

Keywords Provided by Researchers

  • Neuromuscular Disease
  • Muscle weakness
  • Muscle atrophy

Additional Relevant MeSH Terms

  • Neuromuscular; Disorder, Hereditary
  • Duchenne/Becker Muscular Dystrophy
  • Limb-girdle Muscular Dystrophy