Recruiting

Observational Study

Sponsor:

The Duchenne Registry

Code:

NCT07609394

Conditions

Duchenne Muscular Dystrophy (DMD)

Becker Muscular Dystrophy

Dystrophinopathy

Dystrophinopathy Symptomatic Female Carrier

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

Observational study with patients who may be treated with various disease-modifying therapies

Study Details

Brief summary:

This study aims to collect retrospective and prospective, long-term data of patients with dystrophinopathy (including Duchenne, Becker, and female carriers) through electronic transfer. At select clinics across the United States, electronic health record (EHR) data from consented patients will be pushed into PPMD's Duchenne Outcomes Research Interchange (the Interchange), where the EHR data can be combined with patient-reported data from The Duchenne Registry. By combining this data in a central hub, we will gain a more complete picture of Duchenne and Becker muscular dystrophy, allowing researchers and clinicians to develop treatments faster and to improve and refine the standards of care for Duchenne and Becker. The ultimate goal is to optimize function, quality of life, and survival of Duchenne and Becker patients.

EHR data collected will be fully identifiable retrospective data for core clinical data elements going back ten years (as available) from the date of consent; going back one year for retrospective clinical notes from the date of consent; and prospectively collecting both core clinical data elements and clinical notes. Information collected will align with the FHIR U.S. core data elements, also known as the Common Clinical Data Set.

PPMD partnered with Prometheus Research (an IQVIA company), an industry leader in health data informatics, to launch both the EHR Study and the Interchange. All data is stored securely and in accordance with strict industry standards and patient privacy laws. Participation in the EHR data extraction is voluntary, and a patient can withdraw consent at any time.

Conditions

Duchenne Muscular Dystrophy (DMD)

Becker Muscular Dystrophy

Dystrophinopathy

Dystrophinopathy Symptomatic Female Carrier

Study ID

NCT07609394

Start date

Dec 1, 2022

Status verified date

May, 2026

Completion date

Dec, 2072

Anticipated

Primary completion date

Dec, 2035

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • Duchenne or Becker muscular dystrophy or female carrier
  • Must be a patient at an institution that has an established EHR integration set up with PPMD's Interchange
  • Must provide consent to have their EHR data pushed to the Interchange and linked to existing Registry data, if applicable

Exclusion Criteria:

  • Individuals with other forms of muscular dystrophy
  • Individuals who do not provide consent

Individuals with Duchenne/Becker who have severe mobility/strength issues need to provide consent and participate with assistance from a caregiver. Adults with communication impairments and/or intellectual disabilities (considered the "decisionally impaired" group for purposes of this study) will be able to consent with the assistance of the adults who are designated Legally Authorized Representative (LAR). Without assistance, this group will be excluded from participation because the consent process.

Study Design

Enrollment

2500 participants

Anticipated

Interventions and Outcome Measures

Interventions

Observational study with patients who may be treated with various disease-modifying therapies

Patients may be on any combination of therapies to participate, including FDA-approved therapies (corticosteroids, exon skipping therapy, gene therapy) or therapies in clinical trial.

Primary outcome measure

  • Progressive Muscle Weakness [ Time Frame: Date of initiation of corticosteroids and date of first wheelchair/DME order; Steroid use recorded at baseline (day 1) and each annual follow-up visit (until patient is no longer seen at institution or withdraws consent), anticipated average of 20 years. ]
  • Cardiac Function [ Time Frame: Date of first echo, cardiac MRI, and EKG and all follow-up scans recorded at each annual visit (until patient is no longer seen at institution or withdraws consent), anticipated average of 20 years; Date of first ACE inhibitor or ARB prescription. ]
  • Pulmonary Function [ Time Frame: FVC and PCF recorded at baseline (day 1) and at each annual follow-up visit (until patient is no longer seen at institution or withdraws consent), anticipated average of 20 years. ]
  • Bone Health [ Time Frame: BMI, Xray of spine and DEXA scan recorded at baseline (day 1) and at each annual follow up visit (until patient is no longer seen at institution or withdraws consent), anticipated average of 20 years; Date of first bisphosphonates prescription. ]

Central Contacts and Locations

Central contacts

Megan Freed, MPH

800-714-5437megan@parentprojectmd.org

Ann Martin, MS, CGC

800-714-5437ann@parentprojectmd.org

Locations

Arkansas Children's Hospital

Recruiting

Little Rock, Arkansas, United States, 72202

Children's Hospital Colorado

Recruiting

Aurora, Colorado, United States, 80045

Yale Children's Hospital

Recruiting

New Haven, Connecticut, United States, 06511

Children's National Medical Center

Recruiting

Washington D.C., District of Columbia, United States, 20010

University of Iowa Health Care

Recruiting

Iowa City, Iowa, United States, 52242

Duke University Medical Center

Recruiting

Durham, North Carolina, United States, 27710

UT Southwestern Medical Center

Recruiting

Dallas, Texas, United States, 75390

Primary Children's Hospital

Recruiting

Salt Lake City, Utah, United States, 84113

University of Utah Health

Recruiting

Salt Lake City, Utah, United States, 84132

More Information

Sponsor

The Duchenne Registry

Last update posted

May 27, 2026

Last verified

May, 2026

Keywords

  • Duchenne
  • Becker
  • Dystrophinopathy
  • Muscular Dystrophy

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by The Duchenne Registry on 2026-05-27.