Pharmacological Treatment of a Rare Genetic Disease: N-acetylcysteine in Myopathy Associated Selenoprotein N-related Myopathy (SEPN1-RM)

• Status: Terminated
• Trial end date: 2020-08-31
• Target enrollment: 0
• Participant gender: All

Summary

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.

• Phase: Phase 2/Phase 3
• Accepts Healthy Volunteers?: Accepts Healthy Volunteers

Details

• Lead Sponsor: Assistance Publique - Hôpitaux de Paris
• Treatments: Acetylcysteine; N-monoacetylcystine

Criteria

Inclusion Criteria:

1. For patients:

• Patient >18 and <60 years old

• Patients with Selenoprotein N-related myopathy with homozygous or compound heterozygous mutations in the gene SEPN1-RM

• Informed written consent

• Patients capable of being followed up throughout the duration of the study

• Patient trained in the use of cough assist

• Patients having an health insurance

• Patient accepting to commit not to introduce major changes in diet and lifestyle during the study period

2. For healthy volunteers:

• volunteers >18 and <60 years old

• Informed written consent

• Health insurance

Exclusion Criteria:

1. For patients:

• Pregnancy

• Intolerance to N-acetylcysteine (NAC), galactose or fructose; malabsorption glucose or galactose; lactase deficiency

• Consumption of synthetic vitamins, NAC and other antioxidants within 3 months prior to inclusion

• Treatment with corticosteroids or non-steroidal anti-inflammatory from time to time in the 4 weeks preceding the inclusion or for more than 3 days between 12 and 4 weeks before inclusion

• Planned surgery within 3 months before inclusion or during the inclusion period

• Intercurrent or existing illnesses such as chronic infectious diseases (HIV, hepatitis, etc.), asthma, malignant tumor pathology, Hematological Pathology

• Expected survival less than 14 months

• Inability to understand the instructions or the implications of the Protocol

2. For healthy volunteers:

• Pregnancy

• Consumption of synthetic vitamins, NAC and other antioxidants within 3 months prior to inclusion

• Treatment with corticosteroids or non-steroidal anti-inflammatory from time to time in the 4 weeks preceding the inclusion or for more than 3 days between 12 and 4 weeks before inclusion

• Planned surgery within 3 months before inclusion or during the inclusion period

• Intercurrent or existing illnesses such as chronic infectious diseases (HIV, hepatitis, etc.), asthma, malignant tumor pathology, Hematological Pathology

• Inability to understand the instructions or the implications of the Protocol

• Bleeding disorders or other bleeding risks or risk of infection.