Congenital Muscle Disease Study of Patient and Family Reported Medical Information

Part of paid clinical trials in Lakewood, California.

Sponsor
Cure CMD
Study ID
NCT01403402
Status
Recruiting
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Conditions

  • Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations)
  • Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan and Epilepsy)
  • Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)
  • Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy)
  • Alpha-Dystroglycanopathy (Dystroglycanopathy, Congenital With or Without Mental Retardation (Formerly MDC1C))
  • Alpha-Dystroglycanopathy (Fukuyama CMD)
  • Alpha-Dystroglycanopathy (LGMDR09 FKRP Related (Formerly LGMD2I))
  • Alpha-Dystroglycanopathy (LGMDR11 POMT1 Related (Formerly LGMD2K))
  • Alpha-Dystroglycanopathy (LGMDR13 FKTN Related (Formerly LGMD2M))
  • Alpha-Dystroglycanopathy (LGMDR14 POMT2 Related (Formerly LGMD2N))
  • Alpha-Dystroglycanopathy (LGMDR15 POMGnT1 Related (Formerly LGMD2O))
  • Alpha-Dystroglycanopathy (LGMDR19 GMPPB Related (Formerly LGMD2T))
  • Alpha-Dystroglycanopathy (LGMDR20 ISPD Related (Formerly LGMD2U))
  • Alpha-Dystroglycanopathy (LGMDR24 POMGnT2 Related)
  • Alpha-Dystroglycanopathy (Muscle Eye Brain Disease (MEB))
  • Alpha-Dystroglycanopathy (Walker Warburg Syndrome (WWS))
  • Choline Kinase B Receptor - CHKB
  • Collagen VI Related Disorders
  • Collagen XII Related Disorders
  • Congenital Muscular Dystrophy Not Otherwise Specified (Including Merosin Positive)
  • Congenital Muscular Dystrophy With Cataracts and Intellectual Disability (MDCCAID)
  • Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency
  • Congenital Muscular Dystrophy With Joint Hyperlaxity
  • Congenital Muscular Dystrophy With Rigid Spine Related to ACTA1
  • Congenital Myasthenic Syndrome
  • Emery-Dreifuss Muscular Dystrophy
  • GOLGA2-related Congenital Muscle Dystrophy With Brain Involvement
  • LGMDD01 - DNAJB6 (Formerly LGMD1D)
  • LGMDD05 - Collagen VI Related Bethlem Myopathy (Dominant)
  • LGMDR07 - Telethonin (TCAP) Related (Formerly LGMD2G)
  • LGMDR08 - TRIM Related (Formerly LGMD2H)
  • LGMDR09 - FKRP Related (Formerly LGMD2I)
  • LGMDR10 - Titin (TTN) Related (Formerly LGMD2J)
  • LGMDR11 - POMT1 Related (Formerly LGMD2K)
  • LGMDR13 - Fukutin (FKTN) Related (Formerly LGMD2M)
  • LGMDR14 - POMT2 Related (Formerly LGMD2N)
  • LGMDR15 - POMGnT1 Related (Formerly LGMD2O)
  • LGMDR16 - DAG1 Related Dystroglycanopathy (Formerly LGMD2P)
  • LGMDR17 - Plectin (PLEC) Related (Formerly LGMD2Q)
  • LGMDR18 - TRAPPC11 Related (Formerly LGMD2S)
  • LGMDR19 - GMPPB Related (Formerly LGMD2T)
  • LGMDR20 - ISPD Related (Formerly LGMD2U)
  • LGMDR22 - Collagen VI Related Bethlem Myopathy (Recessive)
  • LGMDR23 - LAMA2 Related
  • LGMDR24 - POMGnT2 Related
  • LMNA Related Disorders
  • Limb-Girdle Muscular Dystrophy
  • Merosin Deficient CMD (Full or Partial)
  • Nesprin Related MD (SYNE1)
  • SELENON Related Disorders (Previously Known as SEPN1)
  • SELENON Related Myopathy (Aka SEPN1)
  • Telethonin CMD

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

Start date
Sep 30, 2009
Status verified
Aug 2021
Primary completion
Sep 30, 2029
Completion
Sep 30, 2029

Study Design

Enrollment
4,000 participants (estimated)

Arms

  • Arm: 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.

Primary Outcome Measure

Congenital Muscle Disease Patient and Proxy Reported Outcomes [ Time Frame: 10 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Congenital Muscle Disease International Registry (www.cmdir.org)LakewoodCalifornia90712
Rachel Alvarez, BS
[email protected]
Gustavo Dziewczapolski, PhD (PRINCIPAL_INVESTIGATOR)

Find similar trials in Lakewood, CA

By research site
Congenital Muscle Disease International Registry (www.cmdir.org)· Lakewood, CA

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