Clinical Trials & LSDs

Latest Clinical Research

We are currently focusing on a few in vivo gene therapy studies across different disease groups. We also have some small molecule studies that include both IV and oral.

Fabry Disease

This study is evaluating long-term safety with Fabry Disease patients dosed with ST-920. Four people are being monitored for any incident and severity of adverse events  after receiving AAV2/6 Human Alpha Galactosidase A gene therapy in a previous trial. Patients who completed a 52 week post-infusion follow-up in their primary protocol will be offered to participate. This study ends in February 2024.

Patients have been dosed with 4D310 as part of a clinical trial treating patients with Fabry Disease with gene therapy. This Phase 1/2 Trial is assessing adult males with Fabry Disease who have received a single IV administration of 4D-310. This study is evaluating safety, tolerability, and pharmacodynamics of this drug.

The blinded biweekly study for treatment of patients with Fabry Disease with Pegunigalsidase Alfa (PRX102) has concluded and those who chose to roll over are now being treated with Pegunigalsidase Alfa open label. Patients are receiving PRX-102 as an intravenous infusion every 2 weeks. The study is evaluating safety, tolerability, and efficacy parameters of PRX-102 in adult Fabry patients.

Gaucher Disease

Patients with Gaucher Disease in the long term study for treatment of Venglustat (SRT) in conjunction with Cerezyme (ERT) are continuing to be treated as proposed in the protocol.

This trial will assess safety and tolerability of venglustat in combination with Cerezyme in adult Gaucher Disease Type 3 patients. Completion date for this study is January, 2024.

Niemann Pick C Disease

A Niemann Pick disease type C1 study for blinded biweekly infusion treatment with Trappsol Cyclo is currently enrolling. The Phase 3 study is a randomized, placebo controlled therapeutic trial designed for 93 patients age 3 and older. This research will evaluate safety, tolerability and efficacy of 2000mg/kg of Trappsol Cyclo (hydroxypropyl betacyclodextrin) compared to placebo and standard of care. The estimated primary completion date is December 2023.


Upcoming Studies

  • MPS II (Hunter Syndrome) gene therapy study treated with HMI-203
  • Gaucher Disease gene therapy study for treatment with FLT201
  • Pompe Disease gene therapy study for treatment with SPK-3006
  • Gaucher Disease gene therapy study for treatment with LY3884961