Congenital Myotonic Dystrophy, Dystrophia Myotonica, Dystrophia Myotonica 1, Dystrophia Myotonica 2, Myotonia Atrophica, Myotonia Dystrophica, Myotonic Dystrophy, Myotonic Dystrophy 1, Myotonic Dystrophy 2, Myotonic Dystrophy, Congenital, Myotonic Myopathy, Proximal, PROMM (Proximal Myotonic Myopathy), Proximal Myotonic Myopathy, Steinert Disease, Steinert Myotonic Dystrophy, Steinert's Disease
Conditions
Brief summary
The Myotonic Dystrophy Family Registry (MDFR) is an online, patient-entered database that collects information on myotonic dystrophy (DM) to aid researchers in developing new, effective treatments and help identify participants for research studies and clinical trials.
Detailed description
The Myotonic Dystrophy Family Registry (MDFR) is an online, patient-entered database that collects information on myotonic dystrophy (DM) such as disease symptoms and demographic information to aid researchers in developing new, effective treatments and help identify participants for research studies and clinical trials. The Registry supports trials and studies, making it easier for researchers to explore data and identify possible trial and study participants. It is the first DM registry that gives community members the opportunity to explore anonymous Registry data, to see what the DM community looks like and what others with DM experience. It also provides information on the community of people living with DM, giving researchers and other medical professionals the opportunity to improve how they treat those affected with DM and learn more about how and why certain treatments work and don't work.
Interventions
OTHERPatient-entered data
This registry provides patient-entered data for future clinical trial and study use.
Sponsors
Myotonic Dystrophy Foundation
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Diagnosed with congenital, juvenile-onset or adult onset DM1 or DM2 (confirmed by clinical exam or genetic test)
Exclusion criteria
* Not diagnosed with DM, unaffected family members
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Patient reported outcomes | 36 months | Number of patients reporting specific symptoms and symptom severity, as well as impacts to quality of life and overall burden of disease in order to inform clinical trial development, understanding of disease for academic, industry and federal agency stakeholders and overall policy decisions. Results will be analyzed in comparison to other registry data and surveys to characterize this disease population cohort and to further define the population. |
Countries
United States
Contacts
Primary ContactSofia Olmos, PhD
Outcome results
None listed