Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of DMD and BMD

NCT02972580 | Active Not Recruiting

• 1 other identifier: IRB16-00319
• Study Type: observational
• Target: 250
• Locations: 1 country
• Sites: 1

Brief Summary

Longitudinal prospective observational study. This is a 24-month study with the possibility of extending the data time points. Initially baseline, then 12 and 24 months follow up studies will be completed.

Conditions

Duchenne Muscular Dystrophy; Becker Muscular Dystrophy

Outcome Measures

Primary Outcomes (1)

• Compromise of cardiac function based on Cardiac Magnetic Resonance Imaging

  Cardiac function as compromised by evidence of scarring of cardiac muscles, particularly of the base of the left ventricle via cardiac MRI studies with gadolinium contrast.

  2 years

Secondary Outcomes (12)

• Cardiac Function Assessment Treadmill SVO2

  2 years

• Physical Therapy Assessments Maximum Voluntary Isometric Contraction Testing

  2 Years

• Physical Therapy Assessments 6 Minute Walk Test

  2 years

• Physical Therapy Assessments ACTIVE-seated

  2 Years

• Physical Therapy Assessments Time-to-Rise

  2 Years

Study Arms (4)

Cohort A

DMD/BMD Female Carriers who have/had an affected child (n=150)

Genetic: Genetic characterization

Cohort B

DMD/BMD Female non-carriers controls who have/had an affected child (n=50)

Genetic: Genetic characterization

Cohort C

Healthy Age-Matched Controls (n=50)

Genetic: Genetic characterization

Cohort D

DMD/BMD Female Carriers with no affected children (n=25)

Genetic: Genetic characterization

Interventions

Genetic characterization GENETIC

Confirmatory genetic testing for mutation in DMD gene (Carrier Status) for subjects in respective Cohorts

Cohort A; Cohort B; Cohort C; Cohort D

Eligibility Criteria

• Age: 18 Years+
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Cohort A: DMD/BMD Female Carriers who have/had an affected child (n=150) Cohort B: DMD/BMD Female non-carriers controls who have/had an affected child (n=50) Cohort C: Healthy Age-Matched Controls (n=50) Cohort D: DMD/BMD Female Carriers who do not have/had an affected child (n=25)

You may qualify if:

• Age \>18 years
• Cohort A requires a genetically confirmed mutation in the DMD gene with an affected child
• Cohort B includes DMD/BMD mothers with NO somatic mutation in the DMD gene
• Cohort C age-matched healthy controls with a normal CK level
• Cohort D requires a genetically confirmed mutation in the DMD gene without an affected child
• Able to complete testing in English
• Able to consent

You may not qualify if:

• Subjects with a contraindication to cardiac or skeletal muscle MRI
• Subjects on heart failure medication at time of enrollment
• Subjects on steroid treatment
• Presence of an inherited neurologic disease or comorbidity that may affect their ability to complete this study
• Has a medical condition or extenuating circumstance that, in the opinion of the investigator, might compromise the subject's ability to comply with the protocol required testing or procedures or compromise the subject's wellbeing, safety, or clinical interpretability

Sponsors & Collaborators

• Nationwide Children's Hospital: lead
• Parent Project Muscular Dystrophy: collaborator

Study Sites (1)

Nationwide Children's Hosptial

Columbus, Ohio, 43205, United States

Location

Related Publications (1)

• Mah ML, Cripe L, Slawinski MK, Al-Zaidy SA, Camino E, Lehman KJ, Jackson JL, Iammarino M, Miller N, Mendell JR, Hor KN. Duchenne and Becker muscular dystrophy carriers: Evidence of cardiomyopathy by exercise and cardiac MRI testing. Int J Cardiol. 2020 Oct 1;316:257-265. doi: 10.1016/j.ijcard.2020.05.052. Epub 2020 May 27.

  PMID: 32473283 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

The blood sample for genetic testing will be delivered to the Molecular Genetics lab at Nationwide Children's Hospital, where genomic DNA will be isolated from peripheral white blood cells. DNA will be banked frozen while a portion of the sample will be delivered to the Emory Molecular Genetics Laboratories for testing of the DMD gene.

MeSH Terms

Conditions

Muscular Dystrophy, Duchenne

Condition Hierarchy (Ancestors)

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

Study Officials

• May Ling Mah, MD

  PI

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: July 25, 2016
• First Posted: November 23, 2016
• Study Start: June 1, 2016
• Primary Completion (Estimated): December 1, 2030
• Study Completion (Estimated): December 1, 2030
• Last Updated: August 27, 2024

Record last verified: 2024-08

Locations

US (1)