Topic Hub
Therapy Development
Use this hub when the goal is to understand how FKRP therapeutic development is discussed without collapsing early signals into treatment claims.
Guides
Start with the site-level reference pages that define this topic.
Guide
For Researchers
This page is the research-oriented route into the FKRP site. It is designed to support literature capture, terminology alignment, and use of the paper and study libraries without assuming the user wants to start inside a database index.
Guide
Research Participation
Registries, observational studies, clinical trials, and access programs answer different questions. This guide explains the distinctions, what eligibility and consent mean, and how to verify a current opportunity without assuming enrollment or access.
Papers
Use the paper summaries for dated evidence and limitations.
Paper Summary
Quantitative Measurement of Glycosylated Alpha-Dystroglycan as a Biomarker for Disease Severity in LGMD2I/R9
Prospective 12-month observational study of muscle-biopsy glycosylated alpha-dystroglycan measurements in genetically confirmed LGMD2I/R9.
Paper Summary
Ribitol and ribose treatments differentially affect metabolism of muscle tissue in FKRP mutant mice
Preclinical metabolomics comparison of ribitol and ribose exposure in an FKRP-mutant mouse model.
Paper Summary
Oral ribose supplementation in dystroglycanopathy: A single case study
A six-month oral D-ribose study reported in one adult with FKRP-related LGMD2I.
Paper Summary
Fukutin-Related Protein: From Pathology to Treatments
Review article mapping FKRP biology, disease mechanisms, model systems, and the treatment approaches that were emerging by 2021.
Studies
Use the study records for current trial, registry, and cohort context.
Study Record
A Study of Deflazacort (Emflaza®) in Participants With Limb-Girdle Muscular Dystrophy 2I (LGMD2I)
Phase 3 corticosteroid study record evaluating deflazacort in adults with FKRP-related LGMD2I, ultimately terminated early.
Study Record
AB-1003 Gene Therapy Study in Adults With LGMD2I/R9
Phase 1/2 placebo-controlled gene-therapy study in adults with genetically confirmed FKRP-related LGMD2I/R9.
Study Record
ATA-100 (Formerly GNT0006) Gene Therapy Trial in Patients With LGMDR9
Phase 1 FKRP gene-transfer trial record for ATA-100, designed to assess safety, pharmacodynamics, and immunogenicity with long-term follow-up.
Study Record
BBP-418 (Ribitol) FORTIFY Trial in LGMD2I/LGMDR9
Phase 3 randomized ribitol trial in FKRP-related LGMD2I/LGMDR9, with trial details and separately dated sponsor-reported regulatory updates.
Study Record
Study of BBP-418 in Patients With LGMD2I
Phase 2 open-label ribitol study in FKRP-related LGMD2I/LGMDR9 that provides the main early clinical development context for the BBP-418 program.
Pages