Duchenne Electronic Health Record Study
Duchenne Outcomes Research Interchange Data Enrichment Through EHR Extraction
1 other identifier
observational
2,500
1 country
10
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Dec 2022
Longer than P75 for all trials
10 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
December 1, 2022
CompletedFirst Submitted
Initial submission to the registry
March 19, 2026
CompletedFirst Posted
Study publicly available on registry
May 27, 2026
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 1, 2035
ExpectedStudy Completion
Last participant's last visit for all outcomes
December 1, 2072
May 27, 2026
May 1, 2026
13 years
March 19, 2026
May 21, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (4)
Progressive Muscle Weakness
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
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
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
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.
Interventions
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.
Eligibility Criteria
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.
You may qualify if:
- 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
You may not qualify if:
- 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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- The Duchenne Registrylead
- Parent Project Muscular Dystrophycollaborator
Study Sites (10)
Arkansas Children's Hospital
Little Rock, Arkansas, 72202, United States
UC Davis Health
Sacramento, California, 95817, United States
Children's Hospital Colorado
Aurora, Colorado, 80045, United States
Yale Children's Hospital
New Haven, Connecticut, 06511, United States
Children's National Medical Center
Washington D.C., District of Columbia, 20010, United States
University of Iowa Health Care
Iowa City, Iowa, 52242, United States
Duke University Medical Center
Durham, North Carolina, 27710, United States
UT Southwestern Medical Center
Dallas, Texas, 75390, United States
Primary Children's Hospital
Salt Lake City, Utah, 84113, United States
University of Utah Health
Salt Lake City, Utah, 84132, United States
Related Links
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Officials
- 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
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- OTHER
- Target Duration
- 20 Years
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
March 19, 2026
First Posted
May 27, 2026
Study Start
December 1, 2022
Primary Completion (Estimated)
December 1, 2035
Study Completion (Estimated)
December 1, 2072
Last Updated
May 27, 2026
Record last verified: 2026-05
Data Sharing
- IPD Sharing
- Will share
- Shared Documents
- STUDY PROTOCOL, ICF
De-identified IDP may be shared with researchers following approval by the Duchenne Outcomes Research Interchange Steering Committee.