A number of experiments in animal models that partially mimic GNE Myopathy have shown that supplementation with N-acetyl mannosamine/sialic acid/sialyllactose can improve and or stop progression of the disease. Two major clinical trials have been initiated to test the efficacy of these molecules for treatment of GNE Myopathy.
Slow release sialic acid by Ultragenyx
Ultragenyx trial is in the phase three stage. The preliminary results suggest that it helps in the improvement of the muscles in the upper body and reduces progression of muscles of the lower limbs.
For more : http://www.ultragenyx.com/pipeline/aceneuramic-acid/
N-acetyl mannosamine(DEXM74) supplementation by National Institutes of Health, USA
NIH has completed their phase 1 study on the safety and efficacy of N-acetyl mannosamine supplementation. Phase II study is underway.
For more https://ncats.nih.gov/trnd/projects/active/dex-m74-gne-myopathy
A Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER) Tablets in GNE Myopathy Patients With Severe Ambulatory Impairment.
This study is currently recruiting patients.
For details see https://clinicaltrials.gov/ct2/show/NCT02731690?term=GNE+Myopathy&rank=6
A natural history study of patients with GNE Myopathy is underway.
The study is currently recruiting more patients. It will help to understand progress of the disease and find end point for therapeutic intervention.