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

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

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.

NCT07412821•Cure ADSSL1

View on ClinicalTrials.gov

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

18 - No limit years

Sex

ALL

Healthy Volunteers

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
+3 more criteria

Locations (1)

University of California Los Angeles (UCLA)

Los Angeles, California, United States

Key Dates

Start Date

March 21, 2026

Primary Completion Date

December 31, 2027

Completion Date

December 31, 2027

Last Updated

February 17, 2026

Enrollment

ESTIMATED participants

Conditions

Denylosuccinate Synthetase-like 1-related Distal Myopathy

Interventions

adenylosuccinic acid

DRUG

Contacts

Priyanka Kakkar

CONTACT

331-444-8807 priyanka@cure-adssl1.org

Emma Rybalka, Ph.D.

CONTACT

+61-3-8395-8226 emma@cure-adssl1.org