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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
  Purpose

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.

Condition
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)

Study Type: Observational [Patient Registry]
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 10 Years
Official Title: Congenital Muscle Disease Patient and Proxy Reported Outcome Study

Resource links provided by NLM:


Further study details as provided by Cure CMD:

Primary Outcome Measures:
  • 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.


Estimated Enrollment: 1000
Study Start Date: September 2009
Estimated Study Completion Date: September 2019
Estimated Primary Completion Date: September 2019 (Final data collection date for primary outcome measure)
Groups/Cohorts
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.

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.

  Eligibility

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Participants in CMDPROS will be selected from the CMD International Registry (CMDIR) based on the inclusion criteria above.
Criteria

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

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01403402

Contacts
Contact: Rachel Alvarez counselor@cmdir.org

Locations
United States, California
Congenital Muscle Disease International Registry (www.cmdir.org) Recruiting
Torrance, California, United States, 90502
Contact: Rachel Alvarez       counselor@cmdir.org   
Principal Investigator: Gustavo Dziewczapolski, PhD         
Principal Investigator: Anne Rutkowski, MD         
Sponsors and Collaborators
Cure CMD
Investigators
Study Chair: Gustavo Dziewczapolski, PhD CureCMD, CMDIR
Study Chair: Anne Rutkowski, MD Cure CMD, CMDIR
  More Information

Publications:

Responsible Party: Cure CMD
ClinicalTrials.gov Identifier: NCT01403402     History of Changes
Other Study ID Numbers: CMDPROS1
Study First Received: July 26, 2011
Last Updated: May 5, 2017

Keywords provided by Cure CMD:
Congenital Muscular Dystrophy
Congenital Myopathy
Neuromuscular Diseases
Musculoskeletal Diseases

Additional relevant MeSH terms:
Myopathies, Structural, Congenital
Syndrome
Muscular Dystrophies
Muscular Diseases
Fever
Brain Diseases
Lambert-Eaton Myasthenic Syndrome
Myasthenic Syndromes, Congenital
Myopathies, Nemaline
Sclerosis
Contracture
Malignant Hyperthermia
Muscular Dystrophy, Emery-Dreifuss
Walker-Warburg Syndrome
Myopathy, Central Core
Disease
Pathologic Processes
Muscular Disorders, Atrophic
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Body Temperature Changes
Signs and Symptoms
Central Nervous System Diseases
Paraneoplastic Syndromes, Nervous System
Nervous System Neoplasms
Neoplasms by Site
Neoplasms
Paraneoplastic Syndromes

ClinicalTrials.gov processed this record on June 23, 2017