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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 January 2017 by Cure CMD
Information provided by (Responsible Party):
Cure CMD Identifier:
First received: July 26, 2011
Last updated: January 30, 2017
Last verified: January 2017

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). The CMDIR registers individuals with congenital muscular dystrophy, congenital myopathy and extends to the limb girdle and late onset spectrum for both 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. The registry includes demographic, disease specific and diagnostic questions. Key care parameters are surveyed longitudinally by proxy and/or patient report, confirmed by medical records. Genetic reports are curated by a board certified genetic counselor with support provided to families to pursue molecular confirmation through referrals to national centers of excellence.

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.

Muscular Dystrophy
Congenital Muscular Dystrophy
Fukutin-related Protein Gene
Limb Girdle
Childhood Onset LGMD
Adult Onset LGMD
Alpha Dystroglycan
Congenital Fiber Type Disproportion
Congenital Myopathy
Rigid Spine
Phenotype-Genotype Correlation
Cough Assisted Device
Neuromuscular Disease
Respiratory Exacerbation
Invasive Ventilation
Chest Physiotherapy
Congenital Myopathies
Genetic Mutations
Hypertrophic Cardiomyopathy
Wheelchair Use
Ullrich Congenital Muscular Dystrophy
Intermediate Collagen VI Myopathy
Laminin Alpha 2 Related Congenital Muscular Dystrophy
Merosin Deficient Congenital Muscular Dystrophy
Congenital Muscular Dystrophy Undiagnosed
Congenital Muscular Dystrophy Merosin Positive
Walker Warburg Syndrome
Muscle Eye Brain Disease
Integrin Alpha 7 Deficiency
Integrin Alpha 9 Deficiency
Lamin AC
SEPN1 Related Myopathies
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 Disease Myopathy
Congenital Myopathy Other
Reducing Body Myopathy
Sarcotubular Myopathy
Spheroid Body Myopathy

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
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)
congenital muscle disease
The congenital muscle diseases include both congenital muscular dystrophy and congenital myopathy across the limb girdle and late onset spectrum. For data collection and analysis, subtype specific reports will be generated. True incidence of congenital muscular dystrophy and congenital myopathy is unknown. Current incidence and prevalence numbers for the congenital muscular dystrophies are based on a 1996 Italian population survey prior to molecular diagnostic testing with incidence (1/21,500) and prevalence (1/125,000).

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 through limb girdle spectrum, and congenital myopathy through late onset spectrum. The CMDIR is currently translated into 5 languages: French, German, Spanish, English and Portuguese with plans to add Chinese, Italian, Danish and Japanese.

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.


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) and currently include patients and families with congenital muscle disease from 25 countries.

Inclusion Criteria:

Congenital Muscular Dystrophy subtypes included:

Ullrich CMD (early onset) and Intermediate Collagen VI myopathy Laminin Alpha 2 Related CMD (MDC1A/Merosin def CMD) Dystroglycanopathy (WWS, MEB, Fukuyama) Integrin alpha 7 deficiency Integrin alpha 9 deficiency Laminopathy (Lamin A/C) SEPN 1 related myopathies (Rigid Spine muscular dystrophy) CMD, undiagnosed (including merosin positive)

Limb Girdle Muscular Dsytrophy subtypes included:

Bethlem myopathy Dystroglycanopathies (LGMD2K, LGMD2I, LGMD2L, LGMD2N) Telethoninopathy

Congenital Myopathy subtypes included by muscle biopsy pathology and defined subtypes:

Actin aggregation myopathy Cap disease Central core disease Centronuclear myopathy Congenital fiber type disporportion Core rod myopathy Hyaline body myopathy Multiminicore myopathy Myotubular myopathy Nemaline myopathy Tubular aggregate myopathy Zebra body disease myopathy Congenital myopathy, other

Later onset subtypes of myopathy included:

Reducing body myopathy Sarcotubular myopathy Spheroid body myopathy

Exclusion Criteria: Duchenne muscular dystrophy

  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 identifier: NCT01403402

Contact: Rachel Alvarez, BA 3232502399

United States, California
Congenital Muscle Disease International Registry ( Recruiting
Torrance, California, United States, 90502
Contact: Rachel Alvarez   
Principal Investigator: Anne Rutkowski, MD         
Sponsors and Collaborators
Cure CMD
Study Chair: Anne Rutkowski, MD CureCMD, CMDIR
  More Information


Responsible Party: Cure CMD Identifier: NCT01403402     History of Changes
Other Study ID Numbers: CMDPROS1
Study First Received: July 26, 2011
Last Updated: January 30, 2017

Keywords provided by Cure CMD:
Myopathies, Structural, Congenital
Eye Diseases, Hereditary
Retinal Dystrophies
Retinal Degeneration
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Pathologic Processes
Respiration Disorders
Eye Diseases
Cardiomyopathy, Hypertrophic
Heart Diseases
Central Nervous System Diseases
Nervous System Diseases
Muscular Diseases
Muscular Dystrophies
Muscular Disorders, Atrophic
Neuromuscular Diseases
Myopathies, Nemaline
Musculoskeletal Diseases

Additional relevant MeSH terms:
Myopathies, Structural, Congenital
Muscular Dystrophies
Cardiomyopathy, Hypertrophic
Muscular Diseases
Neuromuscular Diseases
Brain Diseases
Myopathies, Nemaline
Walker-Warburg Syndrome
Myopathy, Central Core
Lens Diseases
Eye Diseases
Heart Diseases
Cardiovascular Diseases
Muscular Disorders, Atrophic
Musculoskeletal Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Aortic Stenosis, Subvalvular
Aortic Valve Stenosis
Heart Valve Diseases
Pathological Conditions, Anatomical
Central Nervous System Diseases
Pathologic Processes
Cobblestone Lissencephaly
Malformations of Cortical Development, Group II processed this record on April 27, 2017