A Phase 2 Open-label, Dose Escalation Study of HST5040 in Subjects with Propionic or Methylmalonic Acidemia followed by a Randomized, Double-blind, Placebo-controlled, 2-period Crossover Study and an Open-label, Long-term Extension Study (known as the HERO study)

Clinicaltrials.gov ID#   04732429

HST5040 is a small molecule drug intended to reduce the disease related toxic metabolites associated with methylmalonic (MMA) and propionic acidemia (PA) and, therefore, reduce the frequency and severity of acute metabolic crises.  This study is a 3 part study evaluating the safety and efficacy of HST5040.  Eligibility criteria includes patients more than 2 years old with confirmed diagnosis of PA or MMA, history of metabolic decompensation, and stable carnitine supplementation dosing.  Patients will be excluded if history of organ transplant, moderate to severe kidney disease, arrhythmia, moderate to severely impaired cardiac function, prior gene therapy for their condition, participation in other clinical trials 6 months prior to enrolling in this study.

Recruitment status:  Recruiting at BCH, as well as 6 other US sites. 

PI:  Dr. Walla Al-Hertani

Contact information: 

Dr. Walla Al-Hertani  -- Walla.Al-Hertani@childrens.harvard.edu

Lora Pixley, study coordinator – Lora.Pixley@childrens.harvard.edu