Treatment for adults with Fabry disease and heart issues

An Open-Label, Phase 1/2a Trial of Gene Therapy 4D-310 in Adults With Fabry Disease and Cardiac Involvement

Phase1; Phase2 Interventional 4D Molecular Therapeutics · NCT05629559

This study is testing a new treatment for adults with Fabry disease and heart problems to see if it is safe and how well it works.

Quick facts

PhasePhase1; Phase2
Study typeInterventional
Enrollment18 (estimated)
Ages18 Years to 65 Years
SexAll
Sponsor4D Molecular Therapeutics Industry-sponsored
Locations4 sites (Melbourne and 3 other locations)
Trial IDNCT05629559 on ClinicalTrials.gov

What this trial studies

This is a multicenter, open-label trial designed to evaluate the safety, tolerability, and pharmacodynamics of a single intravenous administration of 4D-310 in adults diagnosed with Fabry disease who also have cardiac involvement. The trial will involve dose escalation to determine the optimal dosage while monitoring participants for any adverse effects. The study population includes both male and female adults aged 18 to 65 years with specific genetic mutations associated with Fabry disease.

Who should consider this trial

Good fit: Ideal candidates are adults aged 18 to 65 with a confirmed diagnosis of Fabry disease and cardiac involvement who are intolerant to or have had inadequate responses to existing enzyme replacement therapies.

Not a fit: Patients with severe kidney impairment, recent history of significant thromboembolic events, or those with contraindications to corticosteroid therapy may not benefit from this study.

Why it matters

Potential benefit: If successful, this treatment could provide a new therapeutic option for patients with Fabry disease who have cardiac complications.

How similar studies have performed: While there have been studies on Fabry disease treatments, the specific approach of using 4D-310 in this context is novel and has not been extensively tested in prior trials.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria:

1. Male or female ≥ 18 to ≤65 years of age
2. Pathogenic GLA mutation consistent with Fabry Disease
3. Confirmed diagnosis of classic or late-onset Fabry disease with cardiac involvement
4. Intolerant of ERT, unable or unwilling to receive ERT, or progressive disease despite ERT or migalastat
5. Individuals receiving ERT, must be on a stable dose for at least 6 months
6. Agree to use highly effective contraception

Exclusion Criteria:

1. Presence of pre-existing antibodies to 4D-310 capsid or to AGA
2. eGFR \<65 mL/min/1.73 m2
3. Undergone kidney transplantation or currently on hemodialysis or peritoneal dialysis
4. HIV, active or chronic hepatitis B or C,
5. Evidence of liver disease, severe pulmonary disease or diabetes with poor glycemic control
6. History of stroke or transient ischemic attack within the last 12 months, or other significant thromboembolic disease history (e.g. pulmonary embolism)
7. Contraindication to systemic corticosteroid therapy or immunosuppressive therapy
8. Chronic steroid use, defined as ≥ 3 months of oral corticosteroid use within the last 12 months.
9. Moderately severe to severe cardiovascular disease or uncontrolled hypertension
10. Left ventricular ejection fraction of \<45% on echocardiogram (ECHO)
11. Currently receiving investigational drug, device or therapy or having ever received gene therapy
12. History of infusion related response to ERT or any adverse reaction leading to ERT discontinuation
13. History of cancer within 2 years (exceptions include non-melanoma skin cancer, localized prostate cancer treated with curative intent)
14. Pregnant or breast-feeding

Note: Other inclusion and exclusion criteria apply

Where this trial is running

Melbourne and 3 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Fabry DiseaseLysosomal Storage DiseasesNervous System Brain DiseasesMetabolicInborn Brain DiseasesCentral Nervous System DiseasesNervous System DiseasesCerebral Small Vessel Diseases
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.