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NCT07412821

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

Enrolling by Invitation
PHASE1Ages 18+InterventionalTreatment
Cure ADSSL1
~2 participants
Updated 2026-04-07 on ClinicalTrials.gov
What's tested:adenylosuccinic acid

At a glance

Recruiting sites
0 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Incidence and severity of all adverse events (AEs), treatment emergent adverse events (TAEs) and serious adverse events (SAEs).
Measured over Screening through to the last assessment at 10 months.
+7 more outcomes measured

Conditions

Adenylosuccinate Synthase 1 Deficient Myopathy

Explore related trials

Adenylosuccinate Synthase 1 Deficient MyopathyADSS1 Gene

Where it's being run

1 sites across 1 states
California1

Study leadership

  • Perry B Shieh, M.D., Ph.D. · PRINCIPAL_INVESTIGATOR · UCLA Medical Centre

Who to contact

This trial hasn't published a contact. View it on ClinicalTrials.gov

Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

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

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).

What this trial measures

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

    AEs are classified as to seriousness, expectedness, and potential relationship to the investigational product. Seriousness (SAE) criteria: * Results in death * Is life-threatening * Requires in-patient hospitalization or prolongation of existing hospitalization * Results in persistent or significant disability/incapacity * Is a congenital anomaly/birth defect in the offspring of a participant. Severity criteria: * Mild: Awareness of signs or symptom, but easily tolerated * Moderate: Discomfort sufficient to cause interference with normal activities * Severe: Incapacitating, with inability to perform normal activities Expectedness criteria: * Unexpected: An AE for which the nature or severity is inconsistent with information in the protocol/consent form * Expected: An AE known to be associated with any of the study procedures Causality criteria: * Unrelated * Possibly related * Probably related

  • Observed and changes from baseline in vital signs.Screening through to the last assessment at 10 months.

    Vital signs (including blood pressure (BP; mmHg), heart rate (HR; beats per minute), respiratory rate (RR; breaths per minute), and oral/tympanic/axillary temperature are measured at all visits. Height is measured at baseline only (cm); weight is measured at each visit (Kg).

  • Observed and changes from baseline in 12-lead electrocardiogram (ECG).Screening through to the last assessment at 10 months.

    A standard 12-lead ECG will be recorded per Schedule of Events after 5 mins rest. The ECG has little or no risk. Skin may become red or itchy in the areas where the stickers with ECG electrodes are placed. The gel that is used may cause mild skin irritation/abrasion, along with the sticky pads used to attach the electrodes.

  • Observed and changes from baseline in physical examination.Screening through to the last assessment at 10 months.

    A physical exam will be given at screening and per schedule of events to assess general appearance, HEENT (head, eyes, ear, nose and throat), cardiovascular, respiratory (chest), gastrointestinal (abdomen), dermatological, extremities, neurological (mental status, cranial nerves, motor examination, sensory examination, coordination, reflexes, gait), musculoskeletal and lymphatics.

  • Observed and changes from baseline in hematology, comprehensive metabolic panel (CMP), hepatic tests, renal function, and serology.Screening through to last assessment at 10 months.

    Laboratory analyte samples will be collected throughout the study per Schedule of Events. Hematology (complete blood count with auto-differential), comprehensive metabolic panel (CMP) including HbA1C, with hepatic tests (to include serum transaminases, , total bilirubin and alkaline phosphatase), renal function to include creatinine, Cystatin C, urinalysis, uric acid, INR, APTT; Serology will include HIV-1, hepatitis B and C at screening.

  • Observed and changes from baseline in pulmonary function.Screening through to the last assessment at 10 months.

    Forced Vital Capacity (FVC), Maximal Inspiratory Pressure (MIP) and Maximal Expiratory Pressure will be measured by spirometry to assess the strength of respiratory muscles, with MIP indicating the maximum pressure generated during a forceful inhalation against a closed airway, and MEP indicating the maximum pressure generated during a forceful exhalation against a closed airway monitor.

  • Observed and changes from baseline in cardiac function.Screening through to the last assessment at 10 months.

    A standard trans-thoracic echocardiogram will be recorded and read at selected study visits per Schedule of Events. Assessments include standard assessments of the anatomy (veins and atria, atrioventricular segment, ventricles, conotruncus, great arteries) as well as left ventricular and valvular function (including measurements of the left ventricular ejection fraction (LVEF)).

  • Observed and changes from baseline in injection site monitoring.Screening through to the last assessment at 10 months.

    Injection site(s) will be examined at each visit.