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.
Descripción general del estudio
Estado
Condiciones
Intervención / Tratamiento
Tipo de estudio
Inscripción (Estimado)
Contactos y Ubicaciones
Estudio Contacto
- Nombre: Megan Freed, MPH
- Número de teléfono: 800-714-5437
- Correo electrónico: megan@parentprojectmd.org
Copia de seguridad de contactos de estudio
- Nombre: Ann Martin, MS, CGC
- Número de teléfono: 800-714-5437
- Correo electrónico: ann@parentprojectmd.org
Ubicaciones de estudio
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Arkansas
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Little Rock, Arkansas, Estados Unidos, 72202
- Reclutamiento
- Arkansas Children's Hospital
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California
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Sacramento, California, Estados Unidos, 95817
- Aún no reclutando
- UC Davis Health
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Colorado
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Aurora, Colorado, Estados Unidos, 80045
- Reclutamiento
- Children's Hospital Colorado
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Connecticut
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New Haven, Connecticut, Estados Unidos, 06511
- Reclutamiento
- Yale Children's Hospital
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District of Columbia
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Washington D.C., District of Columbia, Estados Unidos, 20010
- Reclutamiento
- Children's National Medical Center
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Iowa
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Iowa City, Iowa, Estados Unidos, 52242
- Reclutamiento
- University of Iowa Health Care
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North Carolina
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Durham, North Carolina, Estados Unidos, 27710
- Reclutamiento
- Duke University Medical Center
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Texas
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Dallas, Texas, Estados Unidos, 75390
- Reclutamiento
- UT Southwestern Medical Center
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Utah
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Salt Lake City, Utah, Estados Unidos, 84113
- Reclutamiento
- Primary Children's Hospital
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Salt Lake City, Utah, Estados Unidos, 84132
- Reclutamiento
- University of Utah Health
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Criterios de participación
Criterio de elegibilidad
Edades elegibles para estudiar
- Niño
- Adulto
- Adulto Mayor
Acepta Voluntarios Saludables
Método de muestreo
Población de estudio
Descripción
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.
Plan de estudios
¿Cómo está diseñado el estudio?
Detalles de diseño
¿Qué mide el estudio?
Medidas de resultado primarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
|---|---|---|
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Progressive Muscle Weakness
Periodo de tiempo: 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
Periodo de tiempo: 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.
|
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Pulmonary Function
Periodo de tiempo: 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.
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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.
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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.
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Bone Health
Periodo de tiempo: 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.
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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.
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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.
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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
Publicaciones y enlaces útiles
Fechas de registro del estudio
Fechas importantes del estudio
Inicio del estudio (Actual)
Finalización primaria (Estimado)
Finalización del estudio (Estimado)
Fechas de registro del estudio
Enviado por primera vez
Primero enviado que cumplió con los criterios de control de calidad
Publicado por primera vez (Actual)
Actualizaciones de registros de estudio
Última actualización publicada (Actual)
Última actualización enviada que cumplió con los criterios de control de calidad
Última verificación
Más información
Términos relacionados con este estudio
Palabras clave
Términos MeSH relevantes adicionales
- Enfermedades musculoesqueléticas
- Enfermedades del Sistema Nervioso
- Enfermedades Musculares
- Enfermedades Neuromusculares
- Enfermedades Genéticas Congénitas
- Enfermedades Genéticas, Ligadas al X
- Trastornos Musculares Atróficos
- Enfermedades y anomalías congénitas, hereditarias y neonatales
- Distrofias Musculares
- Distrofia Muscular, Duchenne
- Técnicas de investigación
- Métodos
- Observación
Otros números de identificación del estudio
- EHR-PPMD-2026
Plan de datos de participantes individuales (IPD)
¿Planea compartir datos de participantes individuales (IPD)?
Descripción del plan IPD
Tipo de información de apoyo para compartir IPD
- PROTOCOLO DE ESTUDIO
- CIF
Información sobre medicamentos y dispositivos, documentos del estudio
Estudia un producto farmacéutico regulado por la FDA de EE. UU.
Estudia un producto de dispositivo regulado por la FDA de EE. UU.
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