Duchenne Electronic Health Record Study

May 21, 2026 updated by: The Duchenne Registry

Duchenne Outcomes Research Interchange Data Enrichment Through EHR Extraction

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

2500

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • United States
    • Arkansas
      • Little Rock, Arkansas, United States, 72202
        • Recruiting
        • Arkansas Children's Hospital
    • California
      • Sacramento, California, United States, 95817
        • Not yet recruiting
        • UC Davis Health
    • Colorado
      • Aurora, Colorado, United States, 80045
        • Recruiting
        • Children's Hospital Colorado
    • Connecticut
      • New Haven, Connecticut, United States, 06511
        • Recruiting
        • Yale Children's Hospital
    • District of Columbia
      • Washington D.C., District of Columbia, United States, 20010
        • Recruiting
        • Children's National Medical Center
    • Iowa
      • Iowa City, Iowa, United States, 52242
        • Recruiting
        • University of Iowa Health Care
    • North Carolina
      • Durham, North Carolina, United States, 27710
        • Recruiting
        • Duke University Medical Center
    • Texas
      • Dallas, Texas, United States, 75390
        • Recruiting
        • UT Southwestern Medical Center
    • Utah
      • Salt Lake City, Utah, United States, 84113
        • Recruiting
        • Primary Children's Hospital
      • Salt Lake City, Utah, United States, 84132
        • Recruiting
        • University of Utah Health

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Individuals with dystrophinopathy (including Duchenne, Becker, and carriers) who are patients at a Certified Duchenne Care Center (CDCC) in the United States that has an established EHR integration with PPMD's Interchange.

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Characterize progressive muscle weakness in dystrophinopathy patients over time by measuring 1) age at start of corticosteroids (age at first prescription); 2) corticosteroid use including name, dose, regimen; and 3) dependence on wheelchair or age at fulltime wheelchair use (date of wheelchair/DME order).
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.
Characterize cardiac standard of care and cardiac function in dystrophinopathy patients by measuring 1) age at first echocardiogram, cardiac MRI, and EKG; 2) age at first ACE inhibitor or ARB prescription; and 3) recording LVEF on echocardiogram and cardiac MRI throughout study.
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.
Characterize pulmonary standard of care and pulmonary function in dystrophinopathy patients by measuring spirometry results including 1) forced vital capacity (FVC), % predicted; and 2) peak cough flow (PCF) in L/min.
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.
Characterize orthopedic standard of care and bone health in dystrophinopathy patients by measuring 1) date of first Xray of spine and DEXA scan; 2) age at first bisphosphonates prescription; and 3) recording BMI throughout study.
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.

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

The Duchenne Registry

Collaborators

Parent Project Muscular Dystrophy

Investigators

  • Principal Investigator: Ann Martin, MS, CGC, Parent Project Muscular Dystrophy
  • Principal Investigator: Eric Camino, PhD, Parent Project Muscular Dystrophy
  • Principal Investigator: Rachel Schrader, MS, APRN, CPNP-PC, Parent Project Muscular Dystrophy

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

December 1, 2022

Primary Completion (Estimated)

December 1, 2035

Study Completion (Estimated)

December 1, 2072

Study Registration Dates

First Submitted

March 19, 2026

First Submitted That Met QC Criteria

May 21, 2026

First Posted (Actual)

May 27, 2026

Study Record Updates

Last Update Posted (Actual)

May 27, 2026

Last Update Submitted That Met QC Criteria

May 21, 2026

Last Verified

May 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • EHR-PPMD-2026

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

De-identified IDP may be shared with researchers following approval by the Duchenne Outcomes Research Interchange Steering Committee.

IPD Sharing Supporting Information Type

  • STUDY_PROTOCOL
  • ICF

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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