A Phase 1b, Open Label, Single and Multiple Ascending Dose-escalation Study to Assess the Safety, Tolerability, Pharmacokinetics and Preliminary Efficacy of Subcutaneous Adenylosuccinic Acid (ASA) in Two Siblings With Adenylosuccinate Synthase 1 (ADSS1) Deficient Myopathy.

Summary

The goal of this clinical trial is to evaluate the safety, tolerability and preliminary efficacy of ASA-001 in two adults diagnosed with ADSS1 deficient myopathy. The main questions it aims to answer are: * Whether ASA-001 can be safely administered to ADSS1 deficient myopathy patients; * Whether daily treatment with ASA-001 provides benefit or slows progression of disease. Participants will: * Take ASA-001 every day for 8 months; * Visit the clinic once every 2 weeks for check-ups and tests

Eligibility

Age range

18+ years

Sex

All

Healthy volunteers

No

Interventions

• Drug
  adenylosuccinic acid

  ASA-001 will be administered as a sterile solution (500-2500 mg/day) by sub-cutaneous infusion pump.

Location