A Retrospective Study of Natural History Data in
Infants and Toddlers with LAMA2-Congenital Muscular Dystrophy
This is a non‐interventional, retrospective medical chart review study of aﬀected individuals with LAMA2‐CMD. Medical records from approximately 100 participants born between 2000 and 2017 will be reviewed and compiled using the Congenital Muscle Disease International Registry (CMDIR).
Requirements to Participate
Confirmed diagnosis of LAMA2‐CMD
Born between 2000—2017
Medical records available for birth—5 years, with a special interest in birth—2years
Records available in English, Spanish, French, Dutch or Arabic
Registration in the Congenital Muscle Disease International Registry (CMDIR)
ClinicalTrials.GOV listing ID: NCT04299321
A Retrospective Natural History Study (rNHS) collects health information by reviewing and extracting data from medical records that have been created during the course of medical care, by healthcare providers who have treated the study participant.
While we have cataloged natural history data for aﬀected individuals between 6 and 18 years of age, we do not have data for aﬀected individuals between Birth and 5 years of age.
Some treatments currently in development will almost certainly be more eﬀective the earlier the treatment is administered to the aﬀected individual. In order to obtain regulatory authorization to launch clinical trials in aﬀected individuals less than 6 years of age, we must demonstrate a documented natural history for this age group.
This study will focus specifically on medical records generated for LAMA2‐CMD aﬀected individuals between birth and 5 years of age, to build our catalog of natural history data in the pediatric LAMA2‐CMD population, in order to provide adequate evidence to regulatory agencies who will determine whether or not a clinical trial for a treatment or intervention may be initiated. No travel is required, and no treatment will be provided.
Aspire IRB Protocol #20200260, Approved 19 Feb 2020