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Molecular Analysis of Patients With Neuromuscular Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT00390104
Recruitment Status : Recruiting
First Posted : October 19, 2006
Last Update Posted : February 19, 2020
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Louis Kunkel, Boston Children’s Hospital

Tracking Information
First Submitted Date October 17, 2006
First Posted Date October 19, 2006
Last Update Posted Date February 19, 2020
Actual Study Start Date January 2002
Estimated Primary Completion Date December 31, 2025   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures Not Provided
Original Primary Outcome Measures Not Provided
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
Descriptive Information
Brief Title Molecular Analysis of Patients With Neuromuscular Disease
Official Title Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members
Brief Summary The purpose of this study is to identify genes and proteins responsible for nerve and muscle disorders by studying genetic material from individuals with 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 but have no causative gene implicated in their disease. Using molecular genetics to unravel the biochemical basis of these neuromuscular disorders should lead to more accurate diagnosis of these disorders and should lead to potential therapies.
Detailed Description We are looking to discover new disease genes responsible for the neuromuscular diseases found in our participants and their families. Our research lab has a long history of identifying novel genes responsible for various forms of neuromuscular disease including; DMD gene, the many of the sarcoglycans, obscurin, and filamin. Each discovery has resulted in advances in our ability to develop diagnostic tests which benefit patients and their families by providing accurate diagnosis, presymptomatic and/or prenatal testing. Genotype-phenotype correlation studies have increased our understanding of the natural history of these rare disorders benefiting patients through better prognostic determinations by clinicians. Biochemical and pathological analysis of muscle biopsies in patients with known and unknown types of neuromuscular disease has led to new insights into disease pathophysiology, which we hope will aid in finding new treatments.
Study Type Observational
Study Design Observational Model: Family-Based
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
DNA from blood or saliva from proband, Muscle tissue from proband, DNA from blood or saliva from family members, Skin biopsy from proband and family members
Sampling Method Non-Probability Sample
Study Population Families will be ascertained world-wide as the muscular dystrophies are a pan-ethinic group of diseases.
  • Limb-girdle Muscular Dystrophy
  • Duchenne Muscular Dystrophy
  • Becker Muscular Dystrophy
  • Neuromuscular; Disorder, Hereditary
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications *

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: July 6, 2017)
Original Enrollment
 (submitted: October 17, 2006)
Estimated Study Completion Date December 31, 2026
Estimated Primary Completion Date December 31, 2025   (Final data collection date for primary outcome measure)
Eligibility Criteria

The samples used in this study will be derived from individuals at risk for, or suffering from, neuromuscular disease, generally resulting in clinical weakness of one or more muscle groups.

Inclusion criteria:

  1. having a clinical and/or pathological diagnosis of a muscular dystrophy
  2. being the first degree relative of someone with such a diagnosis
  3. having had a muscle biopsy if diagnosed with a neuromuscular disease
  4. willingness to provide a skin biopsy for research only

Exclusion Criteria:

  1. not having such a diagnosis and not being related to such an individual
  2. not wishing to participate
  3. being incapable of giving consent and not having a legal guardian willing or able to do so
Sexes Eligible for Study: All
Ages up to 100 Years   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contact: Elicia A Estrella, MS, LCGC 617-919-4552
Contact: Casie Genetti, MS,LCGC 617-919-2169
Listed Location Countries United States
Removed Location Countries  
Administrative Information
NCT Number NCT00390104
Other Study ID Numbers 03-12-205
5R01NS080929 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement
Plan to Share IPD: Yes
Plan Description: Individual participant data will be de-identified to protect privacy, but maybe shared with other researchers.
Supporting Materials: Study Protocol
Supporting Materials: Analytic Code
Time Frame: Once a participant is enrolled, we will keep the data indefinitely.
Access Criteria: Data will only be shared with collaborating scientists once a patient enrolls. Data will be shared according to choice on individual consent forms.
Responsible Party Louis Kunkel, Boston Children’s Hospital
Study Sponsor Boston Children’s Hospital
Collaborators National Institute of Neurological Disorders and Stroke (NINDS)
Principal Investigator: Louis M Kunkel, PhD Boston Children's Hospital/Harvard Medical School
PRS Account Boston Children’s Hospital
Verification Date February 2020