Becker Muscular Dystrophy, Duchenne Muscular Dystrophy (DMD), Dystrophinopathy, Dystrophinopathy Symptomatic Female Carrier
Conditions
Keywords
Duchenne, Becker, Dystrophinopathy, Muscular Dystrophy
Brief summary
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.
Interventions
OTHERObservational study with patients who may be treated with various disease-modifying therapies
Patients may be on any combination of therapies to participate, including FDA-approved therapies (corticosteroids, exon skipping therapy, gene therapy) or therapies in clinical trial.
Sponsors
The Duchenne Registry
Parent Project Muscular Dystrophy
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Progressive Muscle Weakness | 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). |
| Cardiac Function | 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. |
| Pulmonary Function | 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. |
| Bone Health | 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. |
Countries
United States
Contacts
CONTACTMegan Freed, MPH
CONTACTAnn Martin, MS, CGC
PRINCIPAL_INVESTIGATORAnn Martin, MS, CGC
Parent Project Muscular Dystrophy
PRINCIPAL_INVESTIGATOREric Camino, PhD
Parent Project Muscular Dystrophy
PRINCIPAL_INVESTIGATORRachel Schrader, MS, APRN, CPNP-PC
Parent Project Muscular Dystrophy
Outcome results
None listed