|Principal Investigator: Nicholas Johnson|
|Keywords: myotonic dystrophy , congenital myotonic dystrophy , CDM , dystrophia myotonia||Department: Neurology|
|IRB Number: 00066988||Co Investigator: Amy Powell|
|Sub Specialties: Muscular Dystrophy|
|Recruitment Status: Recruiting|
To understand the natural history of congenital myotonic dystrophy. To develop a disease specific quality of life instrument. To prepare this population for future therapeutic trials.
Characteristics of subject population: Both male and female subjects will be recruited. Volunteers from diverse and racial backgrounds will be solicited through the use of local and national recruitment tools.
This study proposes a longitudinal study of 60 children with CDM stratified into the following age cohorts: birth to 2 years, 11 months; 3 years to 5 years, 11 months; 6 years to 8 years, 11 months; and 9 years to 13 years, 11 months. Enrollment will be evenly distributed between cohorts. In addition, 30 control subjects will be recruited,10 subjects per cohorts 2-4.
Inclusion criteria CDM group:
a. Age 0-13 years, 11 months of age
b. A diagnosis of CDM, which is defined as children having symptoms of myotonic dystrophy in the newborn period (<30 days), such as hypotonia, feeding or respiratory difficulty, requiring hospitalization to a ward or to the neonatal intensive care unit for more than 72 hours; and a genetic tests confirming an expanded trinucleotide (CTG) repeat in the DMPK gene in the child or mother. An expanded CTG repeat size in the child is considered greater than 200 repeats or E1–E4 classification (E1= 200–500, E2=500–1,000, E3=1,000–1,500, E4>1,500).
Inclusion criteria, controls:
a. Age 0-13 years, 11 months years of age
b. Healthy children on no medication
Exclusion criteria CDM group:
- Any other non-DM1 illness that would interfere with the ability or results of the study in the opinion of the site investigator
- Significant trauma within one month
- Internal metal or devices (exclusion for MRI and DEXA component)
- Any of the following, which impair the ability to measure PGE2 levels: Prolonged or recent NSAID use within one week; Treatment with glucocorticoids within one month; Vitamin B supplementation within one month; Coffee consumption within 2 days; Treatment with propafol (a general anesthetic) within one week; Chemotherapeutic or antineoplastic drugs (need a reference) within 3 months; Honokiol within one month; Diacerin/rhein within one month; Ethanol within one week; Silibinin/silimaryn within one month
Exclusion criteria, controls:
- Any illness or social situation that, in the opinion of the site investigator, has the possibility to interfere with study procedures
- Recent febrile illness within 2 weeks
- Hemolytic disease
- Increased levels of uric acid
- Idiopathic hypercalcuria – by history only
- Cystic Fibrosis
- DM types 1 and 2
- Active or remitted Hodgkin’s Disease (HD)
- Any of the items previously identified in item d of the exclusion criteria in the CDM subjects.