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

About

Brief 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

Primary Purpose

Treatment

Study Type

Interventional

Phase

Phase 1

Eligibility

Gender

All

Healthy Volunteers

No

Minimum Age

18 Years

Maximum Age

N/A

Inclusion criteria:

Male and females, age 18 years and above and weighing between 60 and 85 kg
Patient(s) diagnosed with ADSS1 deficient myopathy with homozygous or compound heterozygous mutations in the ADSS1 gene.
Able to understand and comply with all the study requirements
Is willing and legally able to provide written informed consent.
Willing to use highly effective contraception

Exclusion criteria:

Any medical condition that could, in the Investigator's opinion, adversely affect the safety of the patient, make it unlikely that the course of treatment would be completed, or impair the assessment of study results.
Any patient who, in the Investigator's opinion, seems unable/unwilling to comply with the study procedures.
Women who are pregnant or breastfeeding, or planning to become pregnant
As judged by the investigator, clinical features are present at the time of screening / baseline assessments indicating that safe travel and completion of the study and its assessments are unlikely
Other severe systemic illness or disease
Participation in another treatment clinical study within thirty (30) days or 5 half-lives of the investigational product, whichever is longer, prior to signing and dating of Informed Consent Form for this study.
Known hypersensitivity to any of the components/excipients in ASA-001
Serologic evidence of hepatitis B, C, or HIV
Ongoing/active infection (including current COVID-19 infection)
Presence of clinically significant liver or renal abnormalities
Clinical chemistry and hematology outside the limits acceptable for this patient population
History of anaphylaxis or severe allergic reaction to drug therapy or foods.
Concomitant medications to manage chronic condition(s) must not interfere with the mechanism of action for ASA-001 in the opinion of the Investigator and dose(s) must not alter for at least 4 weeks before screening through to dosing (Day 1).