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Duchenne Electronic Health Record Study

21. mai 2026 oppdatert av: 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.

Studieoversikt

Status

Rekruttering

Forhold

Intervensjon / Behandling

Studietype

Observasjonsmessig

Registrering (Antatt)

2500

Kontakter og plasseringer

Denne delen inneholder kontaktinformasjon for de som utfører studien, og informasjon om hvor denne studien blir utført.

Studiekontakt

Studer Kontakt Backup

Studiesteder

  • Forente stater
    • Arkansas
      • Little Rock, Arkansas, Forente stater, 72202
        • Rekruttering
        • Arkansas Children's Hospital
    • California
      • Sacramento, California, Forente stater, 95817
        • Har ikke rekruttert ennå
        • UC Davis Health
    • Colorado
      • Aurora, Colorado, Forente stater, 80045
        • Rekruttering
        • Children's Hospital Colorado
    • Connecticut
      • New Haven, Connecticut, Forente stater, 06511
        • Rekruttering
        • Yale Children's Hospital
    • District of Columbia
      • Washington D.C., District of Columbia, Forente stater, 20010
        • Rekruttering
        • Children's National Medical Center
    • Iowa
      • Iowa City, Iowa, Forente stater, 52242
        • Rekruttering
        • University of Iowa Health Care
    • North Carolina
      • Durham, North Carolina, Forente stater, 27710
        • Rekruttering
        • Duke University Medical Center
    • Texas
      • Dallas, Texas, Forente stater, 75390
        • Rekruttering
        • UT Southwestern Medical Center
    • Utah
      • Salt Lake City, Utah, Forente stater, 84113
        • Rekruttering
        • Primary Children's Hospital
      • Salt Lake City, Utah, Forente stater, 84132
        • Rekruttering
        • University of Utah Health

Deltakelseskriterier

Forskere ser etter personer som passer til en bestemt beskrivelse, kalt kvalifikasjonskriterier. Noen eksempler på disse kriteriene er en persons generelle helsetilstand eller tidligere behandlinger.

Kvalifikasjonskriterier

Alder som er kvalifisert for studier

  • Barn
  • Voksen
  • Eldre voksen

Tar imot friske frivillige

Nei

Prøvetakingsmetode

Ikke-sannsynlighetsprøve

Studiepopulasjon

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.

Beskrivelse

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.

Studieplan

Denne delen gir detaljer om studieplanen, inkludert hvordan studien er utformet og hva studien måler.

Hvordan er studiet utformet?

Designdetaljer

Hva måler studien?

Primære resultatmål

Resultatmål
Tiltaksbeskrivelse
Tidsramme
Progressive Muscle Weakness
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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.

Samarbeidspartnere og etterforskere

Det er her du vil finne personer og organisasjoner som er involvert i denne studien.

Sponsor

The Duchenne Registry

Samarbeidspartnere

Parent Project Muscular Dystrophy

Etterforskere

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

Publikasjoner og nyttige lenker

Den som er ansvarlig for å legge inn informasjon om studien leverer frivillig disse publikasjonene. Disse kan handle om alt relatert til studiet.

Hjelpsomme linker

Studierekorddatoer

Disse datoene sporer fremdriften for innsending av studieposter og sammendragsresultater til ClinicalTrials.gov. Studieposter og rapporterte resultater gjennomgås av National Library of Medicine (NLM) for å sikre at de oppfyller spesifikke kvalitetskontrollstandarder før de legges ut på det offentlige nettstedet.

Studer hoveddatoer

Studiestart (Faktiske)

1. desember 2022

Primær fullføring (Antatt)

1. desember 2035

Studiet fullført (Antatt)

1. desember 2072

Datoer for studieregistrering

Først innsendt

19. mars 2026

Først innsendt som oppfylte QC-kriteriene

21. mai 2026

Først lagt ut (Faktiske)

27. mai 2026

Oppdateringer av studieposter

Sist oppdatering lagt ut (Faktiske)

27. mai 2026

Siste oppdatering sendt inn som oppfylte QC-kriteriene

21. mai 2026

Sist bekreftet

1. mai 2026

Mer informasjon

Begreper knyttet til denne studien

Nøkkelord

Ytterligere relevante MeSH-vilkår

Andre studie-ID-numre

  • EHR-PPMD-2026

Plan for individuelle deltakerdata (IPD)

Planlegger du å dele individuelle deltakerdata (IPD)?

JA

IPD-planbeskrivelse

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

IPD-deling Støtteinformasjonstype

  • STUDY_PROTOCOL
  • ICF

Legemiddel- og utstyrsinformasjon, studiedokumenter

Studerer et amerikansk FDA-regulert medikamentprodukt

Nei

Studerer et amerikansk FDA-regulert enhetsprodukt

Nei

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