Duchenne Electronic Health Record Study
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.
Visão geral do estudo
Status
Condições
Intervenção / Tratamento
Tipo de estudo
Inscrição (Estimado)
Contactos e Locais
Contato de estudo
- Nome: Megan Freed, MPH
- Número de telefone: 800-714-5437
- E-mail: megan@parentprojectmd.org
Estude backup de contato
- Nome: Ann Martin, MS, CGC
- Número de telefone: 800-714-5437
- E-mail: ann@parentprojectmd.org
Locais de estudo
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Arkansas
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Little Rock, Arkansas, Estados Unidos, 72202
- Recrutamento
- Arkansas Children's Hospital
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California
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Sacramento, California, Estados Unidos, 95817
- Ainda não está recrutando
- UC Davis Health
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Colorado
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Aurora, Colorado, Estados Unidos, 80045
- Recrutamento
- Children's Hospital Colorado
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Connecticut
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New Haven, Connecticut, Estados Unidos, 06511
- Recrutamento
- Yale Children's Hospital
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District of Columbia
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Washington D.C., District of Columbia, Estados Unidos, 20010
- Recrutamento
- Children's National Medical Center
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Iowa
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Iowa City, Iowa, Estados Unidos, 52242
- Recrutamento
- University of Iowa Health Care
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North Carolina
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Durham, North Carolina, Estados Unidos, 27710
- Recrutamento
- Duke University Medical Center
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Texas
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Dallas, Texas, Estados Unidos, 75390
- Recrutamento
- UT Southwestern Medical Center
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Utah
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Salt Lake City, Utah, Estados Unidos, 84113
- Recrutamento
- Primary Children's Hospital
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Salt Lake City, Utah, Estados Unidos, 84132
- Recrutamento
- University of Utah Health
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Critérios de participação
Critérios de elegibilidade
Idades elegíveis para estudo
- Filho
- Adulto
- Adulto mais velho
Aceita Voluntários Saudáveis
Método de amostragem
População do estudo
Descrição
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.
Plano de estudo
Como o estudo é projetado?
Detalhes do projeto
O que o estudo está medindo?
Medidas de resultados primários
Medida de resultado |
Descrição da medida |
Prazo |
|---|---|---|
|
Progressive Muscle Weakness
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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.
|
Colaboradores e Investigadores
Patrocinador
Colaboradores
Investigadores
- Investigador principal: Ann Martin, MS, CGC, Parent Project Muscular Dystrophy
- Investigador principal: Eric Camino, PhD, Parent Project Muscular Dystrophy
- Investigador principal: Rachel Schrader, MS, APRN, CPNP-PC, Parent Project Muscular Dystrophy
Publicações e links úteis
Datas de registro do estudo
Datas Principais do Estudo
Início do estudo (Real)
Conclusão Primária (Estimado)
Conclusão do estudo (Estimado)
Datas de inscrição no estudo
Enviado pela primeira vez
Enviado pela primeira vez que atendeu aos critérios de CQ
Primeira postagem (Real)
Atualizações de registro de estudo
Última Atualização Postada (Real)
Última atualização enviada que atendeu aos critérios de controle de qualidade
Última verificação
Mais Informações
Termos relacionados a este estudo
Palavras-chave
Termos MeSH relevantes adicionais
- Doenças musculoesqueléticas
- Doenças do Sistema Nervoso
- Doenças Musculares
- Doenças Neuromusculares
- Doenças Genéticas, Congênitas
- Doenças Genéticas, Ligadas ao X
- Distúrbios Musculares Atróficos
- Doenças e Anormalidades Congênitas, Hereditárias e Neonatais
- Distrofias Musculares
- Distrofia Muscular, Duchenne
- Técnicas de investigação
- Métodos
- Observação
Outros números de identificação do estudo
- EHR-PPMD-2026
Plano para dados de participantes individuais (IPD)
Planeja compartilhar dados de participantes individuais (IPD)?
Descrição do plano IPD
Tipo de informação de suporte de compartilhamento de IPD
- PROTOCOLO DE ESTUDO
- CIF
Informações sobre medicamentos e dispositivos, documentos de estudo
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