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.
Přehled studie
Postavení
Podmínky
Typ studie
Zápis (Odhadovaný)
Kontakty a umístění
Studijní kontakt
- Jméno: Megan Freed, MPH
- Telefonní číslo: 800-714-5437
- E-mail: megan@parentprojectmd.org
Studijní záloha kontaktů
- Jméno: Ann Martin, MS, CGC
- Telefonní číslo: 800-714-5437
- E-mail: ann@parentprojectmd.org
Studijní místa
-
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Arkansas
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Little Rock, Arkansas, Spojené státy, 72202
- Nábor
- Arkansas Children's Hospital
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California
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Sacramento, California, Spojené státy, 95817
- Zatím nenabíráme
- UC Davis Health
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-
Colorado
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Aurora, Colorado, Spojené státy, 80045
- Nábor
- Children's Hospital Colorado
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-
Connecticut
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New Haven, Connecticut, Spojené státy, 06511
- Nábor
- Yale Children's Hospital
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-
District of Columbia
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Washington D.C., District of Columbia, Spojené státy, 20010
- Nábor
- Children's National Medical Center
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-
Iowa
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Iowa City, Iowa, Spojené státy, 52242
- Nábor
- University of Iowa Health Care
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North Carolina
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Durham, North Carolina, Spojené státy, 27710
- Nábor
- Duke University Medical Center
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Texas
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Dallas, Texas, Spojené státy, 75390
- Nábor
- UT Southwestern Medical Center
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Utah
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Salt Lake City, Utah, Spojené státy, 84113
- Nábor
- Primary Children's Hospital
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Salt Lake City, Utah, Spojené státy, 84132
- Nábor
- University of Utah Health
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-
Kritéria účasti
Kritéria způsobilosti
Věk způsobilý ke studiu
- Dítě
- Dospělý
- Starší dospělý
Přijímá zdravé dobrovolníky
Metoda odběru vzorků
Studijní populace
Popis
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.
Studijní plán
Jak je studie koncipována?
Detaily designu
Co je měření studie?
Primární výstupní opatření
Měření výsledku |
Popis opatření |
Časové okno |
|---|---|---|
|
Progressive Muscle Weakness
Časové okno: 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
Časové okno: 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
Časové okno: 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
Časové okno: 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.
|
Spolupracovníci a vyšetřovatelé
Sponzor
Spolupracovníci
Vyšetřovatelé
- Vrchní vyšetřovatel: Ann Martin, MS, CGC, Parent Project Muscular Dystrophy
- Vrchní vyšetřovatel: Eric Camino, PhD, Parent Project Muscular Dystrophy
- Vrchní vyšetřovatel: Rachel Schrader, MS, APRN, CPNP-PC, Parent Project Muscular Dystrophy
Publikace a užitečné odkazy
Termíny studijních záznamů
Hlavní termíny studia
Začátek studia (Aktuální)
Primární dokončení (Odhadovaný)
Dokončení studie (Odhadovaný)
Termíny zápisu do studia
První předloženo
První předloženo, které splnilo kritéria kontroly kvality
První zveřejněno (Aktuální)
Aktualizace studijních záznamů
Poslední zveřejněná aktualizace (Aktuální)
Odeslaná poslední aktualizace, která splnila kritéria kontroly kvality
Naposledy ověřeno
Více informací
Termíny související s touto studií
Klíčová slova
Další relevantní podmínky MeSH
- Nemoci pohybového aparátu
- Nemoci nervového systému
- Svalová onemocnění
- Neuromuskulární onemocnění
- Genetické choroby, vrozené
- Genetická onemocnění, vázaná na X
- Svalové poruchy, atrofické
- Vrozené, dědičné a neonatální nemoci a abnormality
- Svalové dystrofie
- Svalová dystrofie, Duchenne
- Vyšetřovací techniky
- Metody
- Pozorování
Další identifikační čísla studie
- EHR-PPMD-2026
Plán pro data jednotlivých účastníků (IPD)
Plánujete sdílet data jednotlivých účastníků (IPD)?
Popis plánu IPD
Typ podpůrných informací pro sdílení IPD
- PROTOKOL STUDY
- ICF
Informace o lécích a zařízeních, studijní dokumenty
Studuje lékový produkt regulovaný americkým FDA
Studuje produkt zařízení regulovaný americkým úřadem FDA
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