Treatment Trials

8 Clinical Trials for Various Conditions

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RECRUITING
A Study to Evaluate the Safety of AB-1003 (Previously LION-101) in Subjects With Genetic Confirmation of LGMD2I/R9 (Part1)
Description

The purpose of this study is to evaluate the safety and tolerability of a single intravenous infusion of AB-1003 in adults diagnosed with limb girdle muscular dystrophy type 2I/R9 (LGMD2I/R9). Participants will be treated in sequential, dose-level cohorts. (Part 1)

ACTIVE_NOT_RECRUITING
Study of BBP-418 in Patients With LGMD2I
Description

BBP-418 is being developed for the treatment of patients with Limb-Girdle Muscular Dystrophy Type 2I (LGMD2I). This is an open label study to determine the safety and tolerability of ascending dose levels of BBP-418 in the treatment of ambulatory and non-ambulatory patients with LGMD2I for which no approved therapy currently exists.

Conditions
COMPLETED
Biomarker Development in LGMD2i
Description

The overall goal of this natural history study is to define the key LGMD2i phenotypes as measured by standard clinical outcome assessments (COAs), and to validate a muscle biomarker for LGMD2i to support therapeutic development.

COMPLETED
A Trial of PF-06252616 in Ambulatory Participants With LGMD2I
Description

The investigational product PF 06252616, a humanized anti myostatin monoclonal antibody that neutralizes myostatin (GDF8) is in development for the treatment of Limb Girdle Muscular Dystrophy 2I (LGMD2I) to preserve and/or improve muscle function. This study will provide the clinical assessment of the safety, tolerability, Pharmacokinetics and Pharmacodynamics of PF 06252616 following repeat IV doses in ambulatory adults with LGMD2I.

Conditions
ACTIVE_NOT_RECRUITING
Study to Evaluate the Efficacy and Safety of BBP-418 (Ribitol) in Patients With Limb Girdle Muscular Dystrophy 2I (LGMD2I)
Description

This study will evaluate the safety and efficacy of long-term administration of BBP-418 in patients with LGMD2I/R9. The study will include patients ages 12 to 60, consistent with the existing preclinical toxicology profile. This will encompass the significant majority of existing diagnosed patients based upon the established epidemiology of the disease.

TERMINATED
A Study of Deflazacort (Emflaza®) in Participants With Limb-Girdle Muscular Dystrophy 2I (LGMD2I)
Description

This study is designed to evaluate the safety and efficacy of deflazacort in participants with LGMD2I. Most participants enrolled will have a screening visit and 3 additional visits (after 1, 13, and 26 weeks of treatment).

RECRUITING
Long-Term Development of Muscular Dystrophy Outcome Assessments
Description

This is a 24-month, observational study of up to 1000 participants with Limb Girdle Muscular Dystrophy (LGMD), Myotonic Dystrophy Type 2 (DM2), and late onset Pompe disease (LOPD).

RECRUITING
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
Description

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) DeficiencyAlpha-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 - CHKBCollagen VI Related DisordersCollagen XII Related DisordersCongenital Muscular Dystrophy Not Otherwise Specified (Including Merosin Positive)Congenital Muscular Dystrophy With Cataracts and Intellectual Disability (MDCCAID)Congenital Muscular Dystrophy With Joint HyperlaxityCongenital Muscular Dystrophy With Rigid Spine Related to ACTA1Emery-Dreifuss Muscular DystrophyGOLGA2-related Congenital Muscle Dystrophy With Brain InvolvementLMNA Related DisordersMerosin Deficient CMD (Full or Partial)Nesprin Related MD (SYNE1)SELENON Related Disorders (Previously Known as SEPN1)SELENON Related Myopathy (Aka SEPN1)Telethonin CMDCongenital Myasthenic SyndromeLimb-Girdle Muscular DystrophyLGMDD01 - 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 RelatedLGMDR24 - POMGnT2 Related