Retrospective Natural History Study of Infants and Toddlers With LAMA2-CMD

Completed

Conditions studied: Merosin Deficient Congenital Muscular Dystrophy

In brief

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 performed only in ages 5-16 years; there is currently no documented natural history for patients ages 0-5 years. Data collected in this study has the potential to inform the design of future interventional studies that draw nearer to clinical trial readiness every day.

Key facts

Study ID

NCT04299321

Run by

Prothelia, Inc.

People needed

75

Starts

2020-04-24

Expected to finish

2021-12-31

Last updated by the study team

2022-02-07

Who can join

Age: 2 and older, up to 21. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• 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

Where it is running

• Cure CMD, Inc. — Lakewood, California, United States

Full record on ClinicalTrials.gov

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