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

This study is currently recruiting participants. (see Contacts and Locations)
Verified June 2014 by Cure CMD
Sponsor:
Information provided by (Responsible Party):
Sabine de Chastonay, Cure CMD
ClinicalTrials.gov Identifier:
NCT01403402
First received: July 26, 2011
Last updated: June 17, 2014
Last verified: June 2014

July 26, 2011
June 17, 2014
September 2009
September 2019   (final data collection date for primary outcome measure)
Congenital Muscle Disease Patient and Proxy Reported Outcomes [ Time Frame: 10 years ] [ Designated as safety issue: No ]
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). 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.

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.

Observational
Observational Model: Cohort
Time Perspective: Prospective
Not Provided
Not Provided
Non-Probability Sample

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.

  • Muscular Dystrophy
  • Congenital Muscular Dystrophy
  • Fukutin-related Protein Gene
  • Limb Girdle
  • FKRP Gene
  • Childhood Onset LGMD
  • Adult Onset LGMD
  • POMT1
  • POMT2
  • POMGnT1
  • LARGE
  • Alpha Dystroglycan
  • Dystroglycanopathy
  • Centronuclear
  • Multiminicore
  • Multicore
  • Minicore
  • Congenital Fiber Type Disproportion
  • Myotubular
  • Nemaline
  • Congenital Myopathy
  • Neuromuscular
  • Rigid Spine
  • Phenotype-Genotype Correlation
  • Cough Assisted Device
  • Neuromuscular Disease
  • Respiratory Exacerbation
  • Invasive Ventilation
  • Chest Physiotherapy
  • Congenital Myopathies
  • Genetic Mutations
  • Hypertrophic Cardiomyopathy
  • Wheelchair Use
  • Cataract
  • Opthalmoplegia
  • Ullrich Congenital Muscular Dystrophy
  • Intermediate Collagen VI Myopathy
  • Laminin Alpha 2 Related Congenital Muscular Dystrophy
  • MDC1A
  • Merosin Deficient Congenital Muscular Dystrophy
  • Congenital Muscular Dystrophy Undiagnosed
  • Congenital Muscular Dystrophy Merosin Positive
  • Walker Warburg Syndrome
  • Muscle Eye Brain Disease
  • Fukuyama
  • Integrin Alpha 7 Deficiency
  • Integrin Alpha 9 Deficiency
  • Laminopathy
  • Lamin AC
  • SEPN 1 Related Myopathies
  • Bethlem Myopathy
  • Dystroglycanopathies
  • LGMD2K
  • LGMD2I
  • LGMD2L
  • LGMD2N
  • 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
Not Provided
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).

*   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:

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

Both
Not Provided
No
United States
 
NCT01403402
CMDPROS1
No
Sabine de Chastonay, Cure CMD
Cure CMD
Not Provided
Not Provided
Cure CMD
June 2014

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