CompletedNot Applicable

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

United States75 participantsStarted 2020-04-24

Plain-language 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 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.

Who can participate

Age range2 Years – 21 Years

SexALL

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Inclusion criteria

✓. 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

Exclusion criteria

✕. 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

What they're measuring

To characterize the natural history of LAMA2-CMD

Timeframe: Birth to 5 years of age

Trial details

NCT IDNCT04299321

SponsorProthelia, Inc.

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2021-12-31

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