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Limb Girdle Muscular Dystrophy (LGMD) Natural History

This study is currently recruiting participants. (see Contacts and Locations)
Verified February 2015 by Amy D. Harper, Carolinas Healthcare System
Muscular Dystrophy Association
Information provided by (Responsible Party):
Amy D. Harper, Carolinas Healthcare System Identifier:
First received: January 18, 2013
Last updated: February 2, 2015
Last verified: February 2015
The purpose of this study is to understand more about limb-girdle muscular dystrophy. Therefore, the investigators would like to track the following information collected once a year from patients with GENETICALLY CONFIRMED LGMD: quality of life questionnaires, muscle strength, motor function, routine examination, assessment of patient (or parent) understanding of LGMD, and serum (blood) for growth factors, cytokines, and biomarkers (all parts of your blood). By tracking this information, we hope to be able to understand more about the diagnosis, progression and natural history of this disorder.

Muscular Dystrophies, Limb-Girdle (GENETICALLY CONFIRMED)

Study Type: Observational [Patient Registry]
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 20 Years
Official Title: Longitudinal Assessment and Genetic Understanding of Limb-Girdle Muscular Dystrophy

Resource links provided by NLM:

Further study details as provided by Amy D. Harper, Carolinas Healthcare System:

Primary Outcome Measures:
  • Comprehensive clinical evaluation of individuals with GENETICALLY CONFIRMED LGMD, according to the study protocol, in order to evaluate disease progression [ Time Frame: yearly up to 10 years ]

Biospecimen Retention:   Samples Without DNA

Estimated Enrollment: 100
Study Start Date: November 2011
Estimated Study Completion Date: November 2017
Estimated Primary Completion Date: November 2017 (Final data collection date for primary outcome measure)
Patients with GENETICALLY CONFIRMED limb girdle muscular dystrophy


Ages Eligible for Study:   6 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with a diagnosis of GENETICALLY CONFIRMED LGMD

Inclusion Criteria:

  • You have a GENETICALLY CONFIRMED diagnosis of Limb Girdle Muscular Dystrophy
  • You must be at least 6 years of age or older (if under 18 you will need Parental consent)
  • You must be able to travel to the study site
  • You must be able to provide a DNA/Gene testing report that confirms a diagnosis of LGMD

Exclusion Criteria:

  • You or your child do not have a diagnosis of LGMD
  • Your child is under age 6
  • You or your child are not able to travel to the study site
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01783509

Contact: Jacqueline Sykes 704-333-3967

United States, North Carolina
Carolinas Medical Center - Pediatrics Recruiting
Charlotte, North Carolina, United States, 28203
Contact: Jacqueline Sykes    704-333-3967   
Principal Investigator: Susan Sparks, MD         
Sub-Investigator: Amy Harper, MD         
Sub-Investigator: Elena Bravver, MD         
Sponsors and Collaborators
Carolinas Healthcare System
Muscular Dystrophy Association
Principal Investigator: Susan Sparks, MD Carolinas Medical Center - Pediatrics
  More Information

Responsible Party: Amy D. Harper, Principal Investigator, Carolinas Healthcare System Identifier: NCT01783509     History of Changes
Other Study ID Numbers: LGMD Nat Hx
Study First Received: January 18, 2013
Last Updated: February 2, 2015

Keywords provided by Amy D. Harper, Carolinas Healthcare System:
GENETICALLY CONFIRMED limb girdle muscular dystrophy

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Dystrophies, Limb-Girdle
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn processed this record on May 25, 2017