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Congenital Muscle Disease Study of Patient and Family Reported Medical Information (CMDPROS)

This study is currently recruiting participants.
See Contacts and Locations
Verified May 2017 by Cure CMD
Sponsor:
Information provided by (Responsible Party):
Cure CMD
ClinicalTrials.gov Identifier:
NCT01403402
First received: July 26, 2011
Last updated: May 5, 2017
Last verified: May 2017
July 26, 2011
May 5, 2017
September 2009
September 2019   (Final data collection date for primary outcome measure)
Congenital Muscle Disease Patient and Proxy Reported Outcomes [ Time Frame: 10 years ]
Correlation between genetic and biopsy findings and their relation to phenotypic and adverse event data.
Not Provided
Complete list of historical versions of study NCT01403402 on ClinicalTrials.gov Archive Site
Not Provided
Not Provided
Not Provided
Not Provided
 
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
Congenital Muscle Disease Patient and Proxy Reported Outcome Study

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.

Observational [Patient Registry]
Observational Model: Cohort
Time Perspective: Prospective
10 Years
Not Provided
Non-Probability Sample
Participants in CMDPROS will be selected from the CMD International Registry (CMDIR) based on the inclusion criteria above.
  • Congenital Muscular Dystrophy (Including Unspecified/Undiagnosed)
  • Dystroglycanopathy
  • Congenital Fiber Type Disproportion
  • Rigid Spine Muscular Dystrophy
  • Congenital Myopathy (Including Unspecified/Undiagnosed)
  • Collagen VI CMD (Ullrich CMD, Intermediate, Bethlem Myopathy)
  • Laminin Alpha 2 Related Congenital Muscular Dystrophy
  • LAMA2-CMD/Merosin Deficient/MDC1A
  • Walker-Warburg Syndrome
  • Muscle-Eye-Brain Disease
  • Fukuyama/Fukutin Related Muscular Dystrophy
  • Integrin Alpha 7 Deficiency
  • Integrin Alpha 9 Deficiency
  • LMNA-CMD/Lamin A/C/Laminopathy
  • SEPN1-Related Myopathy
  • Bethlem Myopathy
  • Actin Aggregation Myopathy
  • Cap Disease
  • Central Core Disease
  • Centronuclear Myopathy
  • Core Rod Myopathy
  • Hyaline Body Myopathy
  • Multiminicore Myopathy
  • Myotubular Myopathy
  • Nemaline Myopathy
  • Tubular Aggregate Myopathy
  • Zebra Body Myopathy
  • Reducing Body Myopathy
  • Spheroid Body Myopathy
  • LGMD1B (LMNA)
  • LGMD1E (DES)
  • LGMD2G (TCAP)
  • LGMD2H (TRIM32)
  • LGMD2I (FKRP)
  • LGMD2J (TTN)
  • LGMD2K (POMT1)
  • LGMD2M (FKTN)
  • LGMD2N (POMT2)
  • LGMD2O (POMGnT1)
  • LGMD2P (DAG1)
  • LGMD2Q (PLEC1)
  • LGMD2R (DES)
  • LGMD2S (TRAPPC11)
  • LGMD2T (GMPPB)
  • LGMD2U (ISPD)
  • LGMD2V (GAA)
  • Ullrich Congenital Muscular Dystrophy
  • Titinopathy
  • Choline Kinase B Receptor
  • Emery-Dreifuss Muscular Dystrophy
  • RYR1 Related Myopathy
  • SYNE1/Nesprin Related Muscular Dystrophy
  • Telethonin Related Muscular Dystrophy (TCAP/Titin-Cap)
  • Congenital Myasthenic Syndrome
  • Escobar Syndrome
  • Myofibrillar Myopathy
  • Malignant Hyperthermia
  • Alpha-Dystroglycan Related Muscular Dystrophy (DAG1, DPM1, DPM2, DPM3, FKRP, FKTN)
  • Alpha-Dystroglycan Related Muscular Dystrophy (GAA, ISPD, LARGE, POMT1, POMT2, POMGnT1)
  • Alpha-Dystroglycan Related Muscular Dystrophy (Unspecified/Undiagnosed/Other)
Not Provided
Congenital Muscle Disease
The congenital muscle diseases include congenital muscular dystrophy, congenital myopathy, congenital myasthenic syndrome and bridge into the limb girdle/late onset spectrum. For data collection and analysis, subtype specific reports will be generated. True incidence of the congenital muscle diseases is unknown.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
1000
September 2019
September 2019   (Final data collection date for primary outcome measure)

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

Sexes Eligible for Study: All
Child, Adult, Senior
No
Contact: Rachel Alvarez counselor@cmdir.org
United States
 
 
NCT01403402
CMDPROS1
No
Not Provided
Not Provided
Not Provided
Cure CMD
Cure CMD
Not Provided
Study Chair: Gustavo Dziewczapolski, PhD CureCMD, CMDIR
Study Chair: Anne Rutkowski, MD Cure CMD, CMDIR
Cure CMD
May 2017

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP