A Phase 1b Study of Adenylosuccinic Acid (ASA-001) for Adenylosuccinate Synthase 1 (ADSS1) Deficient Myopathy.

Conditions

• Adenylosuccinate Synthase 1 Deficient Myopathy

Eligibility Criteria

Sex

ALL

Age

18 Years - N/A

Healthy Volunteers

Not accepted

Interventions

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

Study Details

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

Key Dates

Start date

Mar 26, 2026

Status verified

Apr 2026

Primary completion

Dec 31, 2027

Completion

Dec 31, 2027

Study Design

Enrollment

2 participants (estimated)

Allocation

NA

Intervention model

SINGLE_GROUP

Primary purpose

TREATMENT

Arms

• Experimental: Multiple ascending dose-escalation of ASA-001

Primary Outcome Measure

Incidence and severity of all adverse events (AEs), treatment emergent adverse events (TAEs) and serious adverse events (SAEs). [ Time Frame: Screening through to the last assessment at 10 months. ]

Locations (1)

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