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

24. juni 2026 opdateret af: 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.

Studieoversigt

Status

Rekruttering

Betingelser

Detaljeret 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, we propose to leverage the Duchenne muscular dystrophy cardiac care consortium (DMDCCC). Created with grants from the NHLBI and the FDA, this consortium consists of eight 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 our 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. To our knowledge, 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.

Undersøgelsestype

Observationel

Tilmelding (Anslået)

1000

Kontakter og lokationer

Dette afsnit indeholder kontaktoplysninger for dem, der udfører undersøgelsen, og oplysninger om, hvor denne undersøgelse udføres.

Studiekontakt

Studiesteder

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

Deltagelseskriterier

Forskere leder efter personer, der passer til en bestemt beskrivelse, kaldet berettigelseskriterier. Nogle eksempler på disse kriterier er en persons generelle helbredstilstand eller tidligere behandlinger.

Berettigelseskriterier

Aldre berettiget til at studere

  • Barn
  • Voksen
  • Ældre voksen

Tager imod sunde frivillige

Ingen

Prøveudtagningsmetode

Ikke-sandsynlighedsprøve

Studiebefolkning

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

Dette afsnit indeholder detaljer om studieplanen, herunder hvordan undersøgelsen er designet, og hvad undersøgelsen måler.

Hvordan er undersøgelsen tilrettelagt?

Design detaljer

Kohorter og interventioner

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

Hvad måler undersøgelsen?

Primære resultatmål

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

Samarbejdspartnere og efterforskere

Det er her, du vil finde personer og organisationer, der er involveret i denne undersøgelse.

Sponsor

Vanderbilt University Medical Center

Samarbejdspartnere

National Heart, Lung, and Blood Institute (NHLBI)

Datoer for undersøgelser

Disse datoer sporer fremskridtene for indsendelser af undersøgelsesrekord og resumeresultater til ClinicalTrials.gov. Studieregistreringer og rapporterede resultater gennemgås af National Library of Medicine (NLM) for at sikre, at de opfylder specifikke kvalitetskontrolstandarder, før de offentliggøres på den offentlige hjemmeside.

Studer store datoer

Studiestart (Faktiske)

6. januar 2025

Primær færdiggørelse (Anslået)

1. februar 2029

Studieafslutning (Anslået)

1. februar 2029

Datoer for studieregistrering

Først indsendt

24. juni 2026

Først indsendt, der opfyldte QC-kriterier

24. juni 2026

Først opslået (Faktiske)

30. juni 2026

Opdateringer af undersøgelsesjournaler

Sidste opdatering sendt (Faktiske)

30. juni 2026

Sidste opdatering indsendt, der opfyldte kvalitetskontrolkriterier

24. juni 2026

Sidst verificeret

1. juni 2026

Mere information

Begreber relateret til denne undersøgelse

Nøgleord

Yderligere relevante MeSH-vilkår

Andre undersøgelses-id-numre

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

Plan for individuelle deltagerdata (IPD)

Planlægger du at dele individuelle deltagerdata (IPD)?

JA

IPD-planbeskrivelse

The data will be shared with C-PATH

IPD-delingstidsramme

Data will be available at the conclusion of the study

IPD-delingsadgangskriterier

Access will be determined by C-PATH

Lægemiddel- og udstyrsoplysninger, undersøgelsesdokumenter

Studerer et amerikansk FDA-reguleret lægemiddelprodukt

Ingen

Studerer et amerikansk FDA-reguleret enhedsprodukt

Ingen

Disse oplysninger blev hentet direkte fra webstedet clinicaltrials.gov uden ændringer. Hvis du har nogen anmodninger om at ændre, fjerne eller opdatere dine undersøgelsesoplysninger, bedes du kontakte register@clinicaltrials.gov. Så snart en ændring er implementeret på clinicaltrials.gov, vil denne også blive opdateret automatisk på vores hjemmeside .

Kliniske forsøg med Beckers muskeldystrofi

Søg i lignende forsøg

Sponsorer og samarbejdspartnere

Medicinske tilstande

Narkotikainterventioner

CROs by country

CROs in South Korea

Betingelser

Sjældne sygdomme

Narkotikainterventioner

Kosttilskud

Sponsor / samarbejdspartnere

Placeringer

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