Status:
COMPLETED
Retrospective Natural History Study of Infants and Toddlers With LAMA2-CMD
Lead Sponsor:
Prothelia, Inc.
Collaborating Sponsors:
Cure CMD
The Bönnemann Laboratory, NINDS, National Institutes of Health
Conditions:
Merosin Deficient Congenital Muscular Dystrophy
Eligibility:
All Genders
2-21 years
Brief Summary
This retrospective chart review study of 75-120 LAMA2-CMD patients will expand the investigators understanding of the natural history of this disease. Current and pending publications cover research p...
Detailed Description
LAMA2-related congenital muscular dystrophy (LAMA2-CMD) is caused by a deficiency of the α2 subunit of laminin due to mutation of the LAMA2 gene. Typical LAMA2-CMD cases present with prominent hypoto...
Eligibility Criteria
Inclusion
- Patients diagnosed with LAMA2-CMD through:
- genetic confirmation of two (2) pathogenic mutations in LAMA2 -OR-
- genetic confirmation of one (1) pathogenic mutation in LAMA2, and supporting clinical phenotype based on two or more of the following: physical examination, brain imaging, muscle imaging, muscle biopsy, and creatine kinase (CK) levels (blood test)
- Patients may be living or deceased
- Patients may be male or female
- Patients with available medical records between 2000-2017, documenting diagnosis, observation, and treatment between ages 0-5 years and a minimum set of data covering 12-24 months during this age period.
- Patients with medical charts available in English
- Patients (or Parents of minor patients) who are able to consent to participation in English or Spanish, either directly, or through their own trusted interpreter
- Patients between the ages of 8-17 years who are able to provide assent to participation in English or Spanish, either directly, or through their own trusted interpreter
Exclusion
- Patients not diagnosed with LAMA2-CMD
- Patients with no available medical records documenting diagnosis, observation, and treatment between ages 0-5 years
- Patients with medical charts not available in English
- Patients (or Parents of minor patients) not able to consent to participation in English or Spanish, either directly, or through their own trusted interpreter
Key Trial Info
Start Date :
April 24 2020
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
December 31 2021
Estimated Enrollment :
75 Patients enrolled
Trial Details
Trial ID
NCT04299321
Start Date
April 24 2020
End Date
December 31 2021
Last Update
February 7 2022
Active Locations (1)
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1
Cure CMD, Inc.
Lakewood, California, United States, 90712