Key Takeaway
This is a single-adult case without a control group. It establishes no pediatric dose or pediatric safety, and the paper reported no clear objective improvement in clinical or patient-reported outcome measures.
Evidence 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.
case reportTherapy DevelopmentMonitoringFamilies
Citation: Thewissen RMJ, Post MA, Maas DM, et al. Oral ribose supplementation in dystroglycanopathy: A single case study. JIMD Rep. 2024;65(3):171-181.
Main findings
- Two adults entered the study, but one was excluded from analysis for noncompliance, leaving one analyzed participant.
- The paper reported changes in biochemical measures and subjective symptoms during supplementation.
- Strength measurements were variable, and the authors reported no clear improvement across clinical and patient-reported outcome measures.
Practical relevance
- Provides a hypothesis-generating human report that can inform future research questions.
- It should not be used to select a supplement, calculate a dose, define monitoring, or infer benefit for a child or another adult.
Limitations and cautions
- One analyzed adult, no control group, no blinding, a short observation period, and day-to-day variability prevent causal conclusions.
- The participant had concurrent care and medication changes, and biochemical change is not proof of clinical benefit.
- Adult tolerability in this case does not establish long-term safety, pediatric safety, or a pediatric dose.
Primary Sources
Direct links for verification
Primary indexed record for the paper summary on this page.
Publisher DOI landing page.
Full text used to check the adult-only population, design, outcomes, ethics, conflict statement, and limitations.
Animal study showing that ribose and ribitol had different metabolic effects; it does not provide human dosing or efficacy evidence.
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