Myotonic Dystrophy Family Registry

NCT02398786 | Recruiting DMC

• 1 other identifier: MDF001
• Study Type: observational
• Target: 3,500
• Locations: 1 country
• Sites: 1

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.

Conditions

Myotonic Dystrophy; Congenital Myotonic Dystrophy; Myotonic Dystrophy 1; Myotonic Dystrophy 2; Dystrophia Myotonica; Dystrophia Myotonica 1; Dystrophia Myotonica 2; Myotonia Dystrophica; Myotonic Dystrophy, Congenital; Myotonic Myopathy, Proximal; PROMM (Proximal Myotonic Myopathy); Proximal Myotonic Myopathy; Steinert Disease; Steinert Myotonic Dystrophy; Steinert's Disease; Myotonia Atrophica

Outcome Measures

Primary Outcomes (1)

• Patient reported outcomes

  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.

  36 months

Interventions

Patient-entered data OTHER

This registry provides patient-entered data for future clinical trial and study use.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants will volunteer to participate in this study and enter their own information. The study will be advertised through neuromuscular disease clinics and the Myotonic Dystrophy Foundation and Myotonic Dystrophy Family Registry websites.

You may qualify if:

• Diagnosed with congenital, juvenile-onset or adult onset DM1 or DM2 (confirmed by clinical exam or genetic test)

You may not qualify if:

• Not diagnosed with DM, unaffected family members

Sponsors & Collaborators

• Myotonic Dystrophy Foundation: lead

Study Sites (1)

Myotonic Dystrophy Foundation

Oakland, California, 94612, United States

RECRUITING

Related Links

• Myotonic Dystrophy Family Registry (MDFR) Web portal.

MeSH Terms

Conditions

Myotonic Dystrophy

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Tanya Stevenson, EdD, MPH

  Myotonic Dystrophy Foundation

  STUDY CHAIR

Central Study Contacts

Sofia Olmos, PhD

CONTACT

415-800-7777; coordinator@myotonicregistry.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 6, 2015
• First Posted: March 26, 2015
• Study Start: February 1, 2013
• Primary Completion (Estimated): February 1, 2030
• Study Completion (Estimated): February 1, 2030
• Last Updated: November 21, 2024

Record last verified: 2024-11

Locations

US (1)