N-Acetyl cysteine

Oxigem: AntiOXIdants for a GEnetic Myopathy. The First Clinical Trial for a Congenital Muscle Disorder: N-Acetyl cysteine (NAC) Treatment for SEPN1 Related Myopathy

Dr Ferreiro
Institute of Myology, France

Satrurday 5th June 2010

Overall, the drug is ready for the clinic and there is an unmet need a drug to treat SEPN1-RM. The biological rationale is good; the preclinical animal data are pending. The investigators are well aware of the challenges in conducting a clinical efficacy trial for SEPN1-RM. TACT is concerned that the small Phase II study as currently planned will yield too little information for the planning of Phase III. Therefore, TACT recommends omitting the Phase II biomarker trial as currently planned and designing a larger Phase II trial with a placebo group and including the investigation of those biomarkers and clinical outcomes that are considered as endpoints for a subsequent Phase III trial.

Obtaining additional historical natural history data and prospective natural history data is also considered of high priority. With regards to clinical outcomes, measures of respiratory function and fatigue hold promise. A limited set of clinical outcomes should be selected and prospectively studied under a rigorous protocol as part of a natural history study.

A subsequent Phase III clinical trial should be of relatively long duration (feasibility permitting). Given that SEPN1-RM is a rare disease, efficiency in trial design is very important, so that the best possible use is made of patient time and observations. TACT recommends formal chart review studies of recruitment feasibility and a detailed written recruitment plan. The partnership with patient groups will be very important to the success of this trial. Regardless of the outcome with regards to NAC treatment, a well-designed trial will be an important step towards trial readiness in SEPN1-RM as it will set up much needed trial infrastructure and provide outcomes data for future trial planning.

12 Apr 2017