Congenital Muscle Disease Study of Patient and Family Reported Medical Information
Recruiting
Observational Study
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
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 4,000 (estimated)
- Sponsor
- Cure CMD · Other
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About This Trial
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 bec…
Trial Locations
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Eligibility Criteria
Inclusion Criteria:
Alpha 7/Alpha 9 Integrin Related Myopathy Collagen VI Related Myopathy (Ullrich through Bethlem CMD) Alpha-Dystroglycan Related Muscular Dystrophy (Dystroglycanopathy, WWS, MEB, Fukuyama, FKRP, LGMD2I, LGMD2K, LGMD2M, LGMD2N, LGMD2O) Choline Kinase B Receptor Emery-Dreifuss Musc…
Contacts