Congenital Muscle Disease Study of Patient and Family Reported Medical Information
| Status: | Recruiting |
|---|---|
| Conditions: | High Cholesterol, Cardiology, Neurology, Ocular, Orthopedic |
| Therapuetic Areas: | Cardiology / Vascular Diseases, Neurology, Ophthalmology, Orthopedics / Podiatry |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/21/2016 |
| Start Date: | September 2009 |
| End Date: | September 2019 |
| Contact: | Rachel Alvarez, BA |
| Email: | rachel.alvarez@cmdir.org |
| Phone: | 3232502399 |
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.
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.
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.
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
We found this trial at
1
site
San Pedro, California 90732
Principal Investigator: Anne Rutkowski, MD
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