Oral ribose supplementation in dystroglycanopathy: A single case study.

Area of Science:

• Biochemistry
• Genetics
• Neurology

Background:

• Dystroglycanopathies, including limb girdle muscular dystrophy type 2I (LGMD2I), are linked to the ribitol pathway, affecting O-glycosylation of alpha-dystroglycan.
• Mutations in ISPD, FKRP, and FKTN genes disrupt ribitol phosphate linkage formation, leading to progressive muscle weakness and potential eye/brain involvement.

Purpose of the Study:

• To evaluate the safety and efficacy of oral ribose supplementation in a patient with LGMD2I caused by an FKRP mutation.
• To assess the impact of ribose on creatine kinase levels, CDP-ribitol concentrations, and clinical outcomes.

Main Methods:

• A 6-month open-label trial of oral ribose supplementation (9g or 18g/day) in one LGMD2I patient.
• Monitoring of creatine kinase levels, metabolomic analysis for CDP-ribitol, and assessment of clinical and patient-reported outcomes.

Main Results:

• Ribose was well-tolerated at both doses.
• 18g/day ribose supplementation led to a 70% decrease in creatine kinase levels and a significant increase in CDP-ribitol.
• The patient reported subjective improvements in muscle strength, fatigue, and pain, though objective measures did not change.

Conclusions:

• Oral ribose supplementation appears safe for patients with FKRP-related dystroglycanopathy.
• Ribose supplementation may offer therapeutic benefits by increasing CDP-ribitol levels and improving subjective patient experience.
• Further research is warranted to confirm these findings in larger studies.