Longitudinal Study of the Natural History of Duchenne Muscular Dystrophy (DMD)
The purpose of this study is to establish the largest long-term assessment of people with Duchenne muscular dystrophy (DMD). In this study, the investigators associated with the Cooperative International Neuromuscular Research Group CINRG) will take a detailed look (for a minimum of eight years) at DMD participant's physical abilities, the medical problems they experience, and how they use health care services. Physical abilities will be compared to a group of healthy controls.
The second purpose of this study is to find out whether small, normal differences in the genetic makeup of people with DMD (called "single nucleotide polymorphisms" or "SNPs") affect how their disease progresses and relates to muscle strength/size and steroid response.
The third purpose of this study is to study genetic variations associated with DMD.
The final purpose of this study is to determine whether certain biomarkers are present in people with DMD and not in healthy controls.
|Duchenne Muscular Dystrophy|
|Study Design:||Observational Model: Case Control
Time Perspective: Prospective
|Official Title:||Longitudinal Study of the Relationship Between Impairment, Activity Limitation, Participation and Quality of Life in Persons With Confirmed Duchenne Muscular Dystrophy (DMD)|
- Strength and function [ Time Frame: Collected at yearly visits ]
These assessments include:
- Quantitative muscle testing
- Manual muscle testing
- Pulmonary function testing
- Functional evaluations (nine hole peg, six minute walk, North Star ambulatory assessment, Brooke and Vignos scales, Egen Klassification (EK) scale, and range of motion).
- Quality of life [ Time Frame: Collected at yearly visits ]
These questionnaires include:
- Pediatric Quality of Life Inventory (PedsQL)
- Pediatric Orthopaedic Functional Health Questionnaire of the Pediatric Orthopaedic Society of North America (POSNA)
- World Health Organization Quality of Life Assessment - Brief (WHO QOL Brief)
- Pediatrics and Adult Neuromuscular module Quality of Life (NeuroQOL)
- Review of Systems
- Medical history assessment [ Time Frame: Collected at yearly visits ]Outcomes on ambulation status, medication history, hospitalizations, surgeries, nutrition, fractures, and cardiac tests.
- Biomarkers and genetic modifiers [ Time Frame: Collected either once at any visit or each visit ]
Genotyping and Serum Biomarkers include blood/saliva collection for:
- Blood collection for Genome Wide Association Study (GWAS) analysis (one time sample, any visit)
- Blood or saliva collection for SNP sample (one time sample, any visit)
- Blood collection for biomarker analysis (collected at each visit)
Biospecimen Retention: Samples With DNA
|Study Start Date:||December 2005|
|Estimated Study Completion Date:||December 2019|
|Estimated Primary Completion Date:||December 2019 (Final data collection date for primary outcome measure)|
Ongoing Duchenne Muscular Dystrophy (DMD) Cohort
340 patients currently enrolled participants with DMD.
New Young Duchenne Muscular Dystrophy (DMD) Cohort
Additional 100 confirmed DMD participants aged 4-7 years old to be recruited.
Typically Developing Control Cohort
Up to 370 typically developing male children and adults aged 6-30 years old to be recruited.
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Please refer to this study by its ClinicalTrials.gov identifier: NCT00468832
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|Study Chair:||Craig McDonald, MD||University of California, Davis|