Limb Girdle Muscular Dystrophy (LGMD) Natural History

NCT01783509 | Completed

• 1 other identifier: LGMD Nat Hx
• Study Type: observational
• Target: 13
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Muscular Dystrophies, Limb-Girdle (GENETICALLY CONFIRMED)

Keywords

GENETICALLY CONFIRMED limb girdle muscular dystrophy

Outcome Measures

Primary Outcomes (1)

• Comprehensive clinical evaluation of individuals with GENETICALLY CONFIRMED LGMD, according to the study protocol, in order to evaluate disease progression

  yearly up to 10 years

Study Arms (1)

LGMD

Patients with GENETICALLY CONFIRMED limb girdle muscular dystrophy

Eligibility Criteria

• Age: 6 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with a diagnosis of GENETICALLY CONFIRMED LGMD

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Wake Forest University Health Sciences: lead
• Muscular Dystrophy Association: collaborator

Study Sites (1)

Carolinas Medical Center - Pediatrics

Charlotte, North Carolina, 28203, United States

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood

MeSH Terms

Conditions

Muscular Dystrophies

Condition Hierarchy (Ancestors)

Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Ibrahim Binalsheikh, MD

  Carolinas Medical Center - Pediatrics

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 20 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 18, 2013
• First Posted: February 5, 2013
• Study Start: November 1, 2011
• Primary Completion: July 1, 2017
• Study Completion: July 1, 2017
• Last Updated: April 28, 2022

Record last verified: 2017-07

Locations

US (1)