Duchenne Muscular Dystrophy (DMD)NCT07609394
Duchenne Electronic Health Record Study
An observational study of Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy, run by The Duchenne Registry at 10 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy, Dystrophinopathy
- What is being tested?
- Observational study with patients who may be treated with various disease-modifying therapies
- How many people
- 2,500 participants
- Where
- 10 sitesUnited States
- Study dates
- 1 Dec 2022to Dec 2072
- How long will I take part?
- 20 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- 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.
Trial locations and contacts
10 sites in 1 country. Contact the study team or a site near you to ask about taking part.
10 sites in 1 country
United States10 sites, 10 recruiting
- Recruiting
Children's Hospital Colorado
Aurora, Colorado, 80045
- Recruiting
UT Southwestern Medical Center
Dallas, Texas, 75390
- Recruiting
Duke University Medical Center
Durham, North Carolina, 27710
- Recruiting
University of Iowa Health Care
Iowa City, Iowa, 52242
- Recruiting
Arkansas Children's Hospital
Little Rock, Arkansas, 72202
- Recruiting
Yale Children's Hospital
New Haven, Connecticut, 06511
- Not yet recruiting
UC Davis Health
Sacramento, California, 95817
- Recruiting
Primary Children's Hospital
Salt Lake City, Utah, 84113
- Recruiting
University of Utah Health
Salt Lake City, Utah, 84132
- Recruiting
Children's National Medical Center
Washington D.C., District of Columbia, 20010
About this study
Official title: 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.
- Conditions
- Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy, Dystrophinopathy, Dystrophinopathy Symptomatic Female Carrier
- Being tested
- Observational study with patients who may be treated with various disease-modifying therapies
- Keywords
- Duchenne, Becker, Dystrophinopathy, Muscular Dystrophy
- Medical subject headings
- Muscular Dystrophy, Duchenne, Muscular Dystrophies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Observational study with patients who may be treated with various disease-modifying therapiesOther
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.
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 May 2026
- Study start1 Dec 2022
- Primary completionDec 2035 (estimated)
- Study completionDec 2072 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Duchenne Muscular Dystrophy (DMD)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 2,500 participants (estimated)
- Target duration
- 20 Years
Sponsor and investigators
- Lead sponsor
- The Duchenne Registry
- Sponsor type
- University, hospital or other
- Collaborators
- Parent Project Muscular Dystrophy
- Responsible party
- Sponsor
- Investigators
- Ann Martin, MS, CGC, Principal investigator, Parent Project Muscular DystrophyEric Camino, PhD, Principal investigator, Parent Project Muscular DystrophyRachel Schrader, MS, APRN, CPNP-PC, Principal investigator, Parent Project Muscular Dystrophy
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07609394
- Sponsor's protocol ID
- EHR-PPMD-2026
- Status last verified
- May 2026
- First submitted
- 19 Mar 2026
- Last updated
- 27 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: De-identified IDP may be shared with researchers following approval by the Duchenne Outcomes Research Interchange Steering Committee.
Study at a glance
From the registry record, last updated by the sponsor on 27 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Duchenne Outcomes Research Interchange Data Enrichment Through EHR Extraction
- ClinicalTrials.gov ID
- NCT07609394
- Acronym / sponsor ID
- EHR-PPMD-2026
- Conditions
- Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy, Dystrophinopathy, Dystrophinopathy Symptomatic Female Carrier
- Keywords
- Duchenne, Becker, Dystrophinopathy, Muscular Dystrophy
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 2,500 participants (estimated)
- Lead sponsor
- The Duchenne RegistryUniversity, hospital or other
- Collaborators
- Parent Project Muscular Dystrophy
- Study start
- 1 Dec 2022 (actual)
- Primary completion
- Dec 2035 (estimated)
- Study completion
- Dec 2072 (estimated)
- First posted
- 27 May 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 20 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Observational study with patients who may be treated with various disease-modifying therapiesPatients may be on any combination of therapies to participate, including FDA-approved therapies (corticosteroids, exon skipping therapy, gene therapy) or therapies in clinical trial. | Other | – |
Primary outcome
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).
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.
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.
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 May 2026.
- EHR Study FAQs on The Duchenne Registry websiteLink provided by the sponsor.
- PPMD News article announcing the first patient consented into EHR StudyLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. De-identified IDP may be shared with researchers following approval by the Duchenne Outcomes Research Interchange Steering Committee.
Related trials for Duchenne Muscular Dystrophy (DMD)
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Does Chronic Pain Change Over Time in Children With Duchenne Muscular Dystrophy?
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Bone Health in Adults With Duchenne Muscular Dystrophy: A Survey on Osteoporosis, Fractures and Treatment.
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Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
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PBGENE-DMD Phase 1/2a Safety and Preliminary Efficacy Study in Duchenne Muscular Dystrophy (FUNCTION-DMD)
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Ann Martin, MS, CGC principal investigator
Parent Project Muscular Dystrophy
Eric Camino, PhD principal investigator
Parent Project Muscular Dystrophy
Rachel Schrader, MS, APRN, CPNP-PC principal investigator
Parent Project Muscular Dystrophy
10 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy, run by The Duchenne Registry at 10 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 27 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 10 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Megan Freed, MPH (800-714-5437, megan@parentprojectmd.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the 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.). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 May 2026.