Congenital Muscle Disease Study of Patient and Family Reported Medical Information

Summary

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.

Conditions

• Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency
• Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy)
• 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)
• Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan and 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 Joint Hyperlaxity
• Congenital Muscular Dystrophy With Rigid Spine Related to ACTA1
• Emery-Dreifuss Muscular Dystrophy
• GOLGA2-related Congenital Muscle Dystrophy With Brain Involvement
• LMNA Related Disorders
• Merosin Deficient CMD (Full or Partial)
• Nesprin Related MD (SYNE1)
• SELENON Related Disorders (Previously Known as SEPN1)
• SELENON Related Myopathy (Aka SEPN1)
• Telethonin CMD
• Congenital Myasthenic Syndrome
• Limb-Girdle Muscular Dystrophy
• 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

Sponsors & Collaborators

• Cure CMD

  lead OTHER

Principal Investigators

• Gustavo Dziewczapolski, PhD · CureCMD, CMDIR

Eligibility

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2009-09-30

Primary Completion

2029-09-30

Completion

2029-09-30

Countries

• United States

Study Locations