Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy
| Status: | Recruiting |
|---|---|
| Healthy: | No |
| Age Range: | Any - 15 |
| Updated: | 10/24/2018 |
| Start Date: | December 14, 2016 |
| End Date: | December 31, 2019 |
| Contact: | Nicholas Johnson, MD |
| Email: | nicholas.johnson@vcuhealth.org |
| Phone: | 804-628-6439 |
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.
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.
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:
- Age 0-15 yrs
- Healthy children on no medication
Exclusion Criteria:
- Any illness or situation that, in the opinion of the site investigator, has the
possibility to interfere with study procedures
- DM type 1 and 2
We found this trial at
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