Congenital Muscle Disease Study of Patient and Family Reported Medical Information

  • STATUS
    Recruiting
  • End date
    Sep 16, 2029
  • participants needed
    4000
  • sponsor
    Cure CMD
Updated on 16 August 2021
myopathy

Summary

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.

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.

Details
Condition Myofibrillar Myopathy, LGMDR19 - GMPPB Related (Formerly LGMD2T), Central Core Disease, Ullrich Congenital Muscular Dystrophy, Spheroid Body Myopathy, LGMD2G (TCAP), Congenital Muscular Dystrophy With Rigid Spine Related to ACTA1, Emery-Dreifuss muscular dystrophy, SELENON Related Disorders (Previously Known as SEPN1), LGMD1B (LMNA), Congenital Muscular Dystrophy Not Otherwise Specified (Including Merosin Positive), LGMD2O (POMGnT1), Titinopathy, LGMDR13 - Fukutin (FKTN) Related (Formerly LGMD2M), Dystroglycanopathy, LGMDR23 - LAMA2 Related, LGMD2Q (PLEC1), Fukuyama/Fukutin Related Muscular Dystrophy, LGMDD01 - DNAJB6 (Formerly LGMD1D), Alpha-Dystroglycanopathy (LGMDR11 POMT1 Related (Formerly LGMD2K)), GOLGA2-related Congenital Muscle Dystrophy With Brain Involvement, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy), Laminin Alpha 2 Related Congenital Muscular Dystrophy, Alpha-Dystroglycanopathy (Fukuyama CMD), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations), Integrin Alpha 7 Deficiency, Telethonin Related Muscular Dystrophy (TCAP/Titin-Cap), Core Rod Myopathy, Nesprin Related MD (SYNE1), LMNA Related Disorders, Alpha-Dystroglycanopathy (LGMDR24 POMGnT2 Related), Congenital Muscular Dystrophy With Cataracts and Intellectual Disability (MDCCAID), RYR1 Related Myopathy, LGMD2R (DES), LGMD2K (POMT1), Zebra Body Myopathy, LGMD2P (DAG1), Alpha-Dystroglycanopathy (LGMDR15 POMGnT1 Related (Formerly LGMD2O)), LGMD2T (GMPPB), LGMDR16 - DAG1 Related Dystroglycanopathy (Formerly LGMD2P), LGMD2S (TRAPPC11), Congenital Myopathy (Including Unspecified/Undiagnosed), Bethlem Myopathy, congenital myasthenic syndrome, Reducing Body Myopathy, Rigid Spine Muscular Dystrophy, Escobar Syndrome, LGMDD05 - Collagen VI Related Bethlem Myopathy (Dominant), Alpha-Dystroglycanopathy (LGMDR14 POMT2 Related (Formerly LGMD2N)), Alpha-Dystroglycanopathy (LGMDR09 FKRP Related (Formerly LGMD2I)), Alpha-Dystroglycanopathy (LGMDR13 FKTN Related (Formerly LGMD2M)), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan and Epilepsy), Alpha-Dystroglycanopathy (Walker Warburg Syndrome (WWS)), SELENON Related Myopathy (Aka SEPN1), Actin Aggregation Myopathy, LGMDR11 - POMT1 Related (Formerly LGMD2K), LGMDR18 - TRAPPC11 Related (Formerly LGMD2S), LGMD2M (FKTN), Integrin Alpha 9 Deficiency, Alpha-Dystroglycanopathy (LGMDR20 ISPD Related (Formerly LGMD2U)), Cap Disease, Centronuclear myopathy, SYNE1/Nesprin Related Muscular Dystrophy, LGMDR20 - ISPD Related (Formerly LGMD2U), Congenital Muscular Dystrophy (Including Unspecified/Undiagnosed), LGMDR14 - POMT2 Related (Formerly LGMD2N), LGMDR09 - FKRP Related (Formerly LGMD2I), Alpha-Dystroglycan Related Muscular Dystrophy (Unspecified/Undiagnosed/Other), Collagen VI Related Disorders, Alpha-Dystroglycanopathy (Dystroglycanopathy, Congenital With or Without Mental Retardation (Formerly MDC1C)), LGMDR17 - Plectin (PLEC) Related (Formerly LGMD2Q), LGMD1E (DES), Warburg Syndrome, Muscular Dystrophy, LGMDR22 - Collagen VI Related Bethlem Myopathy (Recessive), LMNA-CMD/Lamin A/C/Laminopathy, LGMDR08 - TRIM Related (Formerly LGMD2H), Merosin Deficient CMD (Full or Partial), Alpha-Dystroglycanopathy (Muscle Eye Brain Disease (MEB)), LGMD2V (GAA), LGMDR07 - Telethonin (TCAP) Related (Formerly LGMD2G), LGMD2U (ISPD), LAMA2-CMD/Merosin Deficient/MDC1A, Malignant Hyperthermia, LGMDR15 - POMGnT1 Related (Formerly LGMD2O), Limb-girdle muscular dystrophy, Alpha-Dystroglycan Related Muscular Dystrophy (GAA, ISPD, LARGE, POMT1, POMT2, POMGnT1), Alpha-Dystroglycan Related Muscular Dystrophy (DAG1, DPM1, DPM2, DPM3, FKRP, FKTN), Multiminicore Myopathy, LGMD2I (FKRP), Collagen XII Related Disorders, Alpha-Dystroglycanopathy (LGMDR19 GMPPB Related (Formerly LGMD2T)), Telethonin CMD, Collagen VI CMD (Ullrich CMD, Intermediate, Bethlem Myopathy), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan), Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Hyaline Body Myopathy, LGMDR10 - Titin (TTN) Related (Formerly LGMD2J), SEPN1-Related Myopathy, LGMDR24 - POMGnT2 Related, Nemaline Myopathy, Choline Kinase B Receptor - CHKB, LGMD2H (TRIM32), LGMD2J (TTN), Choline Kinase B Receptor, LGMD2N (POMT2), Congenital Muscular Dystrophy With Joint Hyperlaxity
Clinical Study IdentifierNCT01403402
SponsorCure CMD
Last Modified on16 August 2021

Eligibility

Yes No Not Sure

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
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