Global FKRP Registry
Condition(s):LGMD2I; LGMDR9; Limb Girdle Muscular Dystrophy; Congenital Muscular Dystrophy; Muscle-Eye-Brain Disease; Walker-Warburg Syndrome; FKRP Gene MutationLast Updated:January 30, 2024Recruiting
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Condition(s):LGMD2I; LGMDR9; Limb Girdle Muscular Dystrophy; Congenital Muscular Dystrophy; Muscle-Eye-Brain Disease; Walker-Warburg Syndrome; FKRP Gene MutationLast Updated:January 30, 2024Recruiting
Condition(s):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 RelatedLast Updated:August 9, 2021Recruiting
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