Thiamine and Nicotinamide Riboside Improve Symptoms in Charcot-Marie-Tooth Neuropathy: Case Report
Objectives
To identify the mechanistic basis of GDAP1 dysfunction in CMT2K and test whether targeted metabolic activation using thiamine and NR can therapeutically correct mitochondrial biochemical abnormalities.
Journal
Biochemistry(Mosc)
Key Outcomes
- Combined administration of thiamine and NR increased hand grip strength and normalized metabolism, with the improvements more strongly correlated to blood ThDP levels than NAD+, suggesting a closer link between thiamine status and muscle function.
- This combination also restored normal correlations between thiamine status parameters, bringing them closer to patterns observed in healthy individuals.
- Additionally, thiamine and NR helped regulate metabolic pathways more effectively and may have the potential to slow disease progression when administered early, possibly preventing more severe symptoms and disability.
Duration
Duration is unclear; the intervention lasted a minimum of six months.
For a comprehensive overview of the NR dosing protocol and the administration of other compounds, please refer to the publication.
Dose
Thiamine: 100 mg for the first 2 months, then 100 mg every other day for the next 4 months
NR: 100 mg starting in the 3rd month, then 100 mg every other day from the 6th month onward
Study Design
Observational, single-patient, clinical case study of a 16-year-old female patient with Charcot-Marie-Tooth neuropathy type 2K (CMT2K), due to mutations in the GDAP1 gene