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Modeling Mortality in Duchenne Muscular Dystrophy Cardiomyopathy: Identification of Surrogate Outcome Measures for DMD Drug Trials

26. juli 2026 oppdatert av: Jonathan Soslow, Vanderbilt University Medical Center

Evaluating Cardiac Function in Patients With Duchenne Muscular Dystrophy

Dystrophin associated heart dysfunction is a leading cause of death in patients with Duchenne and Becker Muscular dystrophy (DMD/BMD) and Duchenne and Becker muscular dystrophy carriers (MDC); however, the evolution of heart dysfunction is not well-understood. The central objectives of this proposal are to elucidate this evolution of heart dysfunction and identify measures from cardiac MRI images that can predict death or significant heart disease in patients with DMD/BMD/MDC. This study will create a large clinical and cardiac MRI registry of dystrophin associated heart dysfunction, will utilize advanced image analysis techniques, including deep learning neural networks, to comprehensively evaluate every patient, and will create a risk toolkit accessible to clinicians around the world; this proposal has the potential to improve the quality of life in patients with dystrophin associated heart dysfunction by allowing for earlier and more intensive therapy in patients with severe disease and by identifying surrogate outcome measures for use in therapeutic trials.

Studieoversikt

Status

Rekruttering

Forhold

Detaljert beskrivelse

Duchenne and Becker muscular dystrophy (DMD/BMD) are devastating diseases with no cure resulting in loss of ambulation, respiratory failure, cardiomyopathy, and premature death. Dystrophin associated cardiomyopathy (defined here as CM) is the leading cause of death in DMD/BMD, and an under-studied concern in DMD and BMD mutation carriers (MDC). CM progression is variable and poorly described in the current era. There are no blood or imaging biomarkers that can predict the pace of progression or the risk of early mortality. More importantly, there are no established cardiac outcome measures. Novel, targeted therapeutics are necessary to treat CM, but these significant knowledge gaps make clinical trials challenging. A better understanding of DMD/BMD/MDC cardiovascular disease progression and the identification of surrogate outcome measures are critical for the field to advance. To address these obstacles, the investigators propose to leverage the Duchenne muscular dystrophy cardiac care consortium (DMDCCC). Created with grants from the NHLBI and the FDA, this consortium consists of twelve high-volume sites with similar DMD/BMD/MDC cardiovascular treatment and diagnostic protocols, including surveillance CMR imaging every 1-2 years. This proposal will create a comprehensive prospective registry of DMD/BMD/MDC patients with meticulously collected clinical data and cardiac magnetic resonance (CMR) images; we anticipate enrollment of 950 patients with over 4000 CMR studies. This cohort will be used to better define the progression of CM and to determine associations with mortality. The central hypothesis of this proposal is that integrated statistical modeling based on advanced imaging can improve prediction of CM progression and mortality. Aim 1 will create a comprehensive cohort of DMD/BMD/MDC patients and model the progression of CM. Aim 2 will determine cardiovascular measures that are associated with CM mortality or rapid progression using novel, data-driven, personalized machine learning models. Aim 3 will create a portal for DMD/BMD/MDC centers to determine patient risk. This multi-PI proposal leverages expertise in clinical care, cardiac imaging, biomedical engineering, complex image analysis, and neural networks. This study will create the largest cohort of DMD/BMD/MDC patients with CMR images, allowing for a better understanding of CM progression and identifying biomarkers that associate with poor outcomes. The resulting risk portal will provide clinicians all over the world with a method to assess their patient's risk in real time, allowing intensification of therapy for those deemed high risk. By building on prior productive collaborations, particularly that of the DMDCCC, this proposal will expand our understanding of CM, improving clinical care and future cardiac-specific therapeutic trials.

Studietype

Observasjonsmessig

Registrering (Antatt)

1000

Kontakter og plasseringer

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

Studiekontakt

Studiesteder

  • Forente stater
    • California
      • Sacramento, California, Forente stater, 95616
    • District of Columbia
      • Washington D.C., District of Columbia, Forente stater, 20010
    • Illinois
      • Chicago, Illinois, Forente stater, 60611
        • Rekruttering
        • Lurie Children's
        • Ta kontakt med:
          • Study Coordinator
          • Telefonnummer: 312-227-4100
    • Indiana
      • Indianapolis, Indiana, Forente stater, 46202
        • Rekruttering
        • Riley Children's Hospital
        • Ta kontakt med:
    • North Carolina
      • Durham, North Carolina, Forente stater, 27705
        • Rekruttering
        • Duke Children's Hospital
        • Ta kontakt med:
    • Ohio
      • Columbus, Ohio, Forente stater, 43205
    • Tennessee
      • Nashville, Tennessee, Forente stater, 37232
        • Rekruttering
        • Vanderbilt University Medical Center
        • Ta kontakt med:
    • Virginia
      • Richmond, Virginia, Forente stater, 23220
        • Rekruttering
        • Children's Hospital of Richmond at VCU
        • Ta kontakt med:
    • Washington
      • Seattle, Washington, Forente stater, 98105

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

Clinical phenotype of Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or muscular dystrophy carrier (MDC) confirmed with muscle biopsy or genotype

Beskrivelse

Inclusion Criteria:

  • Clinical phenotype of Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or muscular dystrophy carrier (MDC) confirmed with muscle biopsy or genotype

Exclusion Criteria:

  • Additional genetic or congenital abnormality that may affect cardiovascular function or progression
  • Current investigational therapy that may affect cardiovascular function (would preclude ongoing data collection but prior data would still be used)

Studieplan

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

Hvordan er studiet utformet?

Designdetaljer

Kohorter og intervensjoner

Gruppe / Kohort
Duchenne Muscular Dystrophy, Becker muscular dystrophy, and carriers of muscular dystrophy
Evaluation of surrogate outcome measures of disease in patients with dystrophinopathy

Hva måler studien?

Primære resultatmål

Resultatmål
Tiltaksbeskrivelse
Tidsramme
Mortality
Tidsramme: baseline to 10 years
Time from biomarker of interest to mortality
baseline to 10 years

Samarbeidspartnere og etterforskere

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

Sponsor

Vanderbilt University Medical Center

Samarbeidspartnere

National Heart, Lung, and Blood Institute (NHLBI)

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)

6. januar 2025

Primær fullføring (Antatt)

1. februar 2029

Studiet fullført (Antatt)

1. februar 2029

Datoer for studieregistrering

Først innsendt

24. juni 2026

Først innsendt som oppfylte QC-kriteriene

24. juni 2026

Først lagt ut (Faktiske)

30. juni 2026

Oppdateringer av studieposter

Sist oppdatering lagt ut (Faktiske)

28. juli 2026

Siste oppdatering sendt inn som oppfylte QC-kriteriene

26. juli 2026

Sist bekreftet

1. juli 2026

Mer informasjon

Begreper knyttet til denne studien

Nøkkelord

Ytterligere relevante MeSH-vilkår

Andre studie-ID-numre

  • 240203
  • R01HL167969 (U.S. NIH-stipend/kontrakt)

Plan for individuelle deltakerdata (IPD)

Planlegger du å dele individuelle deltakerdata (IPD)?

JA

IPD-planbeskrivelse

The data will be shared with C-PATH

IPD-delingstidsramme

Data will be available at the conclusion of the study

Tilgangskriterier for IPD-deling

Access will be determined by C-PATH

Legemiddel- og utstyrsinformasjon, studiedokumenter

Studerer et amerikansk FDA-regulert medikamentprodukt

Nei

Studerer et amerikansk FDA-regulert enhetsprodukt

Nei

Denne informasjonen ble hentet direkte fra nettstedet clinicaltrials.gov uten noen endringer. Hvis du har noen forespørsler om å endre, fjerne eller oppdatere studiedetaljene dine, vennligst kontakt register@clinicaltrials.gov. Så snart en endring er implementert på clinicaltrials.gov, vil denne også bli oppdatert automatisk på nettstedet vårt. .

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