Selenoprotein N-related Myopathy Clinical Trial
Official title:
Pharmacological Treatment of a Rare Genetic Disease: Pilot Trial Phase II-III With N-acetylcysteine in Myopathy Associated SEPN1-RM (Selenoprotein N-related Myopathy)
The objective of this study is to determine whether the administration of N-acetylcysteine (NAC) improves oxidative stress. To determine this, the study will assess the impact of oral treatment on the balance between reduced and oxidized form of glutathione in erythrocytes of peripheral blood.
A prospective, monocentric, crossover, double-blind, placebo-controlled study.
For each patient the study will be divided in two treatment periods of 6 months separated by
a 2 month washout period. 24 patients will be randomized in two groups, one group treated
first with placebo during 6 months, followed by 6 months; the second group treated in the
reverse sequence, then placebo.
24 healthy volunteers will also be enrolled in the study in order to collect reference values
for biochemical biomarkers.
D-1: run-up visit, patients will be hospitalized in intensive care unit to collect
information about diet, physical activity and smoking.
During follow-up visits: we will analyze the impact of treatment with N-acetylcysteine (NAC)
on:
- Biomarkers of redox homeostasis,
- Measures of locomotor functional capacity,
- Body mass composition,
- Respiratory functional abilities.
Biomarkers that reflect the status of antioxidant defense mechanisms, parameters that reflect
the cell damage to oxidative stress, the markers of inflammation and metabolic alterations
induced by oxidative stress, body composition in terms of lean mass and fat mass, the motor
functional abilities, respiratory function capabilities, will be compare before and after
treatment.
These measures could complement the information on the status of oxidative stress and clarify
the effects of N-acetylcysteine (NAC) on the evolution of the disease in these patients.
The correlation of biomarker measurements in muscle and systemic tissues will be checked.
Furthermore we will collect information about the lifestyle through standardized
questionnaires that include diet, smoking, and habitual physical activity. Environmental
factors and lifestyle can influence the balance oxidant / antioxidant patients and contribute
to the variability of the clinical severity of the disease.
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