Congenital Muscle Disease Study of Patient and Family Reported Medical Information
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
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.
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.
Inclusion Criteria:

 Alpha 7/Alpha 9 Integrin Related Myopathy Collagen VI Related Myopathy (Ullrich through
 Bethlem CMD) Alpha-Dystroglycan Related Muscular Dystrophy (Dystroglycanopathy, WWS, MEB,
 Fukuyama, FKRP, LGMD2I, LGMD2K, LGMD2M, LGMD2N, LGMD2O) Choline Kinase B Receptor
 Emery-Dreifuss Muscular Dystrophy (EDMD, LGMD1B, LMNA, Emerin, FHL1, SYNE1, SYNE2, TMEM43)
 LAMA2 Related Muscular Dystrophy (Laminin Alpha 2 related dystrophy/MDC1A/Merosin
 deficient) LMNA Related Muscular Dystrophy (Laminopathy/LaminA/C, L-CMD, Emery Dreifuss
 muscular dystrophy) RYR1 Related Myopathy (with dystrophic presentation, including
 Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) SEPN1 Related
 Myopathy (Rigid Spine Muscular Dystrophy/RSMD1, Congenital Fiber Type Disproportion,
 Mallory Weiss Body Desmin, Multi-minicore Myopathy) SYNE1 (Nesprin Related Muscular
 Dystrophy) Telethonin Related Muscular Dystrophy (TCAP/Titin-Cap) Congenital Muscular
 Dystrophy Not Otherwise Specified (including Merosin Positive) Titin Related LGMD/CMD,
 LGMD2J Actin Aggregation Myopathy Cap Disease Central Core Disease (including Malignant
 Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) Centronuclear Myopathy
 (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis)
 Congenital Fiber Type Disproportion (including Malignant Hyperthermia, Exertional Myalgia
 with or without Rhabdomyolysis) Core Rod Myopathy Hyaline Body Myopathy Multiminicore
 Myopathy Myotubular Myopathy Nemaline Myopathy Reducing Body Myopathy RYR1 Related Myopathy
 (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis)
 Spheroid Body Myopathy Titin Related Myopathy, Titin Related Dialated Cardiomyopathy,
 LGMD2J Tubular Aggregate Myopathy Zebra Body Disease Myopathy Congenital Myopathy Not
 Otherwise Specified Congenital Myasthenic Syndrome Escobar Syndrome Myofibrillar Myopathy

 Exclusion Criteria:

 Charcot Marie Tooth Duchenne/Becker Muscular Dystrophy Facioscapulohumeral Dystrophy/FSHD
 Kennedy's Disease LGMD-1A (TTID) LGMD-1C (CAV3, Caveloin 3, Caveolinopathy, LQT9, VIP21)
 LGMD-1D (7q) LGMD-1E (6q23) LGMD-1F (7q32.1-q32.2) LGMD-1G (4q21) LGMD-2A
 (CAPN3/Calpainopathy) LGMD-2B (DYSF/Dysferlinopathy/Miyoshi Myopathy) LGMD-2C (SGCG)
 LGMD-2D (SGCA) LGMD-2E (SGCB) LGMD-2F (SGCD) LGMD-2L (AN05/Anoctamin 5) Lipodystrophy
 Myotonic Dystrophy Oculopharyngeal Muscular Dystrophy Spinal Muscular Atrophy