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. |
ClinicalTrials.gov Identifier: NCT00390104 |
Recruitment Status
:
Recruiting
First Posted
: October 19, 2006
Last Update Posted
: July 11, 2017
|
- Study Details
- Tabular View
- No Results Posted
- Disclaimer
- How to Read a Study Record
Condition or disease |
---|
Limb-girdle Muscular Dystrophy Duchenne Muscular Dystrophy Becker Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy |
Study Type : | Observational |
Estimated Enrollment : | 1000 participants |
Observational Model: | Family-Based |
Time Perspective: | Prospective |
Official Title: | Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members |
Actual Study Start Date : | January 2002 |
Estimated Primary Completion Date : | December 31, 2020 |
Estimated Study Completion Date : | December 31, 2021 |


Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | up to 100 Years (Child, Adult, Senior) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
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:
- having a clinical and/or pathological diagnosis of a muscular dystrophy
- being the first degree relative of someone with such a diagnosis
- having had a muscle biopsy if diagnosed with a neuromuscular disease
- willingness to provide a skin biopsy for research only
Exclusion Criteria:
- not having such a diagnosis and not being related to such an individual
- not wishing to participate
- being incapable of giving consent and not having a legal guardian willing or able to do so

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00390104
Contact: Elicia A Estrella, MS, LCGC | 617-919-4552 | elicia.estrella@childrens.harvard.edu | |
Contact: Casie Genetti, MS,LCGC | 617-919-2169 | Casie.Genetti@childrens.harvard.edu |
United States, Massachusetts | |
Children's Hospital Boston | Recruiting |
Boston, Massachusetts, United States, 02115 | |
Contact: Elicia A Estrella, MS, LCGC 617-919-4552 elicia.estrella@childrens.harvard.edu | |
Contact: Casie Genetti, MS, LCGC 617-919-2169 Casie.Genetti@childrens.harvard.edu | |
Principal Investigator: Louis M Kunkel, PhD |
Principal Investigator: | Louis M Kunkel, PhD | Children's Hospital Boston/Harvard Medical School |
Additional Information:
Study Data/Documents: Kunkel lab newsletters

Publications of Results:
Other Publications:
Responsible Party: | Louis Kunkel, Professor of Genetics and Pediatrics, Harvard Medical School, Boston Children's Hospital |
ClinicalTrials.gov Identifier: | NCT00390104 History of Changes |
Other Study ID Numbers: |
03-12-205 5R01NS080929 ( U.S. NIH Grant/Contract ) |
First Posted: | October 19, 2006 Key Record Dates |
Last Update Posted: | July 11, 2017 |
Last Verified: | July 2017 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | Yes |
Plan Description: | Individual participant data maybe shared with other researchers, but participant samples will be de-identified. |
Keywords provided by Louis Kunkel, Boston Children's Hospital:
Neuromuscular Disease Muscle weakness Muscle atrophy |
Additional relevant MeSH terms:
Muscular Dystrophies Muscular Dystrophy, Duchenne Neuromuscular Diseases Muscular Dystrophies, Limb-Girdle Muscular Dystrophy, Facioscapulohumeral Muscular Disorders, Atrophic |
Muscular Diseases Musculoskeletal Diseases Nervous System Diseases Genetic Diseases, Inborn Genetic Diseases, X-Linked |