The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR) to acquire necessary data for adverse event calculations (intake survey and medical records curation). To support this study and become a participant, we ask that you register in the CMDIR. You can do this by visiting www.cmdir.org. There is no travel required. The registry includes affected individuals with congenital muscular dystrophy, congenital myopathy, and congenital myasthenic syndrome and registers through the late onset spectrum for these disease groups. The CMDIR was created to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure. Simply put, we will not be successful in finding a treatment or cure unless we know who the affected individuals are, what the diagnosis is and how the disease is affecting the individual. Registering in the CMDIR means that you will enter demographic information and complete an intake survey. We would then ask that you provide records regarding the diagnosis and treatment of CMD, including genetic testing, muscle biopsy, pulmonary function testing, sleep studies, clinic visit notes, and hospital discharge summaries. Study hypothesis: 1. To use patient and proxy reported survey answers and medical reports to build a longitudinal care and outcomes database across the congenital muscle diseases. 2. To generate congenital muscle disease subtype specific adverse event rates and correlate with key care parameters.

Population

Participants in CMDPROS will be selected from the CMD International Registry (CMDIR) based on the inclusion criteria above.

Brief Title

Congenital Muscle Disease Study of Patient and Family Reported Medical Information

Official Title

Congenital Muscle Disease Patient and Proxy Reported Outcome Study

Brief Summary

The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a<br /> longitudinal 10 year study to identify and trend care parameters, adverse events in the<br /> congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR)<br /> to acquire necessary data for adverse event calculations (intake survey and medical records<br /> curation). To support this study and become a participant, we ask that you register in the<br /> CMDIR. You can do this by visiting www.cmdir.org. There is no travel required.<br /><br /> The registry includes affected individuals with congenital muscular dystrophy, congenital<br /> myopathy, and congenital myasthenic syndrome and registers through the late onset spectrum<br /> for these disease groups. The CMDIR was created to identify the global congenital muscle<br /> disease population for the purpose of raising awareness, standards of care, clinical trials<br /> and in the future a treatment or cure. Simply put, we will not be successful in finding a<br /> treatment or cure unless we know who the affected individuals are, what the diagnosis is and<br /> how the disease is affecting the individual.<br /><br /> Registering in the CMDIR means that you will enter demographic information and complete an<br /> intake survey. We would then ask that you provide records regarding the diagnosis and<br /> treatment of CMD, including genetic testing, muscle biopsy, pulmonary function testing, sleep<br /> studies, clinic visit notes, and hospital discharge summaries.<br /><br /> Study hypothesis:<br /><br /> 1. To use patient and proxy reported survey answers and medical reports to build a<br /> longitudinal care and outcomes database across the congenital muscle diseases.<br /><br /> 2. To generate congenital muscle disease subtype specific adverse event rates and correlate<br /> with key care parameters.

Detailed Description

The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a
longitudinal 10 year observational study to identify care and trend key care parameters and
adverse events in the congenital muscle diseases using the Congenital Muscle Disease
International Registry (CMDIR). The CMDIR registers individuals with and without genetic
confirmation who have been given a clinical diagnosis of congenital muscular dystrophy,
congenital myopathy, and congenital myasthenic syndrome, or myofibrillar myopathy, through
the limb girdle/late onset spectrum.

Identifying care parameters and adverse events in the rare genetic neuromuscular diseases can
be difficult. Care is fragmented, genetic confirmation may not be prioritized by the medical
community or covered by medical insurance and patients are scattered globally with potential
challenges aggregating data across centers. Natural history studies are currently being
launched. However, potential biases to participation include recruitment of the less severely
affected patients given difficulty traveling secondary to a medically fragile condition.
There is currently no treatment for these conditions; though optimizing and standardizing
care and care delivery can promote significant gains in quality of life and survival.
Identifying disease specific care parameters and correlating those parameters with adverse
event rates will not only contribute to the development of evidence based guidelines but
inform clinically meaningful outcomes for future clinical trials.

Study hypothesis:

1. To use patient and proxy reported survey answers and medical reports to build a
longitudinal care and outcomes database across the congenital muscle diseases.

2. To generate congenital muscle disease subtype specific adverse event rates and correlate
with key care parameters.

Primary outcome is survival measured from date of birth to date of death. Primary outcome
will be analyzed by congenital muscle disease subtype and maximal ambulatory status achieved.

Secondary outcomes include disease specific adverse event rates including rates of
hospitalization, rates of antibiotic use, rates of pulmonary infections, pneumothorax,
atelectasis, aspiration and adverse complaints including bloating, constipation, chest pain,
dyspnea assessed by a validated breathing assessment, vomiting and nausea and difficulty
eating. Patient and proxy hospitalization, pneumothorax and atelectasis reports will be
confirmed by obtaining hospital discharge summaries. Additional secondary outcomes include
ejection fraction (relevance subtype specific), forced vital capacity in liters, weight,
Rapid Eye Movement (REM) sleep apnea hypopnea index and mean oxygen saturation during REM and
total sleep study, age, gender, type of treatment center location (national referral center,
tertiary care hospital, community hospital), gastrostomy tube, total number of fractures and
Tscore/Zscore of hip and spine on DEXA scans.

Preliminary studies may focus on specific congenital muscle disease subtypes and use
retrospective data collection through registry, survey monkey and telephone interviews to
assess adverse event rates over last month and last year to limit recall bias. Prospective
enrollment of same study participants over 12 months will assess monthly rates of adverse
events and complaints. A preliminary study, CMD PROADE (Patient and Proxy Reported ADverse
Event Rates) is planned in 2 congenital muscular dystrophy subtypes: Collagen 6 Myopathy and
LAMA 2 Related CMD.

De-identified data from CMDIR will be made available for IRB approved natural history studies
in the congenital muscle diseases.

Outcome Measures

Outcome measures are the tests that investigators perform to prove whether or not a treatment being tested in a clinical trial is having any effect.