Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy (TREAT-CDM)

Virginia Commonwealth University (VCU)

Status

Active, not recruiting

Conditions

Congenital Myotonic Dystrophy

Treatments

Other: Natural history

Study type

Observational

Funder types

Other

Identifiers

NCT03059264

HM20014211

Details and patient eligibility

About

Congenital Myotonic Dystrophy (CDM) is a multi-systemic, dominantly inherited disorder caused by a trinucleotide repeat expansion (CTGn) in the DMPK gene. CDM occurs when the CTGn increases between the adult myotonic dystrophy type-1 (DM1) parent and the child. Children with CDM present at birth with respiratory insufficiency, talipes equinovarus, feeding difficulties and hypotonia. There is a 30% mortality rate in the first year of life. As children grow, they are at risk for intellectual impairment, autistic features, gastrointestinal symptoms, and motor delay.

The investigators will enroll children with CDM between ages 0-15 with visits at baseline and one year to evaluate appropriate physical functional outcomes, cognitive function and quality of life over time. Functional outcome measures will be correlated with potential biomarkers in the children. Completion of these specific aims will extend the understanding of disease progression in CDM and will provide the requisite information for successful therapeutic trials in children with DM.

Enrollment

100 patients

Sex

All

Ages

Under 15 years old

Volunteers

Accepts Healthy Volunteers

Inclusion and exclusion criteria

CDM Group

Inclusion Criteria:

Age 0-15 yrs
Diagnosis of CDM, based on symptoms and genetic testing of expanded trinucleotide repeats.

Exclusion Criteria:

Any other non-DM1 illness that would interfere with the ability or results of the study in the opinion of site investigator
Significant trauma within one month
Internal metal or devices

Control Group

Inclusion Criteria: