Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Class |
|---|---|
| Parent Project Muscular Dystrophy | OTHER |
Not provided
Not provided
Not provided
Not provided
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.
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Observational study with patients who may be treated with various disease-modifying therapies | Other | 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. |
| Measure | Description | Time Frame |
|---|---|---|
| Progressive Muscle Weakness | 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 | 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 | 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 | 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. |
Not provided
Not provided
Inclusion Criteria:
Exclusion Criteria:
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.
Not provided
Not provided
Not provided
Not provided
Individuals with dystrophinopathy (including Duchenne, Becker, and carriers) who are patients at a Certified Duchenne Care Center (CDCC) in the United States that has an established EHR integration with PPMD's Interchange.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Megan Freed, MPH | Contact | 800-714-5437 | megan@parentprojectmd.org | |
| Ann Martin, MS, CGC | Contact | 800-714-5437 | ann@parentprojectmd.org |
| Name | Affiliation | Role |
|---|---|---|
| Ann Martin, MS, CGC | Parent Project Muscular Dystrophy | Principal Investigator |
| Eric Camino, PhD | Parent Project Muscular Dystrophy | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Arkansas Children's Hospital | Recruiting | Little Rock | Arkansas | 72202 | United States | |
Not provided
| Label | URL |
|---|---|
| EHR Study FAQs on The Duchenne Registry website | View source |
| PPMD News article announcing the first patient consented into EHR Study | View source |
Not provided
De-identified IDP may be shared with researchers following approval by the Duchenne Outcomes Research Interchange Steering Committee.
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Rachel Schrader, MS, APRN, CPNP-PC |
| Parent Project Muscular Dystrophy |
| Principal Investigator |
| UC Davis Health |
| Not yet recruiting |
| Sacramento |
| California |
| 95817 |
| United States |
| Children's Hospital Colorado | Recruiting | Aurora | Colorado | 80045 | United States |
| Yale Children's Hospital | Recruiting | New Haven | Connecticut | 06511 | United States |
| Children's National Medical Center | Recruiting | Washington D.C. | District of Columbia | 20010 | United States |
| University of Iowa Health Care | Recruiting | Iowa City | Iowa | 52242 | United States |
| Duke University Medical Center | Recruiting | Durham | North Carolina | 27710 | United States |
| UT Southwestern Medical Center | Recruiting | Dallas | Texas | 75390 | United States |
| Primary Children's Hospital | Recruiting | Salt Lake City | Utah | 84113 | United States |
| University of Utah Health | Recruiting | Salt Lake City | Utah | 84132 | United States |
| ID | Term |
|---|---|
| D020388 | Muscular Dystrophy, Duchenne |
| D009136 | Muscular Dystrophies |
| ID | Term |
|---|---|
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Not provided
Not provided
| ID | Term |
|---|---|
| D019370 | Observation |
| ID | Term |
|---|---|
| D008722 | Methods |
| D008919 | Investigative Techniques |
Not provided
Not provided