Currently Recruiting Clinical Trials/Studies For Propionic Acidemia

NIH Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia

This study will evaluate patients with propionic acidemia to learn more about the genetic and biochemical causes and the medical complications associated with it.  They also plan to study how bacteria living in our gut (microbiome) can affect the course of propionic acidemia.

Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia (HERO)

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 sponsored by HemoShear Therapeutics.

As of 4/23/23 – the HERO study is currently enrolling patients at these sites:

United States

  • Boston Children’s Hospital
  • Children’s Hospital of Pittsburgh
  • Children’s National Health System
  • Children’s Mercy in Kansas City
  • University of Minnesota
  • Rady Children’s Hospital (UC San Diego)
  • Yale
  • Emory University School of Medicine
  • Ann & Robert H. Lurie Children’s Hospital of Chicago
  • Helen DeVos Children’s Hospital
  • University Hospitals Cleveland Medical Center
  • University of Pittsburgh Medical Center – Children’s Hospital of Pittsburgh
  • Vanderbilt University Medical Center
  • University of Utah Hospital

Australia

  • Royal Children’s Hospital Melbourne

Open Label Study of mRNA-3927 in Patients With Propionic Acidemia

This is a Phase 1/2 study sponsored by Moderna TX, Inc.  It is designed to evaluate if an investigational treatment called mRNA-3927 is safe and effective in reducing the symptoms of PA in individuals one year of age and older.  mRNA 3927 is an investigational intravenous (IV) infusion treatment that instructs a persons’ body to make a PCC enzyme that works.

As of 4/23/23, the study is recruiting at the following sites:

United States:

  • David Geffen School of Medicine UCLA
  • Johns Hopkins Hospital
  • Boston Children’s Hospital
  • University of Michigan
  • Icahn School of Medicine at Mount Sinai – Clinical Research Unit
  • Duke University Medical Center
  • Cincinnati Children’s Hospital
  • Children’s Hospital of Philadelphia
  • Texas Children’s Hospital

Canada:

  • Hospital For Sick Children

United Kingdom:

  • University Hospital Birmingham NHS Foundation Trust
  • Great Ormond Street Hospital (GOSH)

Study on BBP-671

A First in Human, Dose Escalation Study to Evaluate the Safety and Tolerability of BBP-671 in Healthy Volunteers and Patients With Propionic Acidemia or Methylmalonic Acidemia

CoA Therapeutics has completed the necessary preclinical studies in animals with their small molecule drug candidate, BBP-671, to support beginning human trials. Additionally, the U.S. Federal Drug Association (FDA) has approved their Investigational New Drug (IND) application to study BBP-671 in humans.

Recruiting at:

  • Community Health Clinic, IN
  • UPMC Children’s Hospital of Pittsburgh

Review of Charts From Amish/Mennonite Variant PA Patients

The study is designed to provide a comprehensive description of the clinical and biochemical features of propionic acidemia, Amish/Mennonite variant (PA-AMV).

Recruiting at Children’s Hospital of Pittsburgh

DISCLAIMER

Propionic Acidemia Foundation website is designed for educational purposes only and is not intended to serve as medical advice.  The information provided on this site should not be used for diagnosing or treating a health problem or disease.  It is not a substitute for professional care.  If you suspect that you or your children may have Propionic Acidemia, you should consult your health care provider.    Any potential therapy should be thoroughly discussed with your medical provider.  The Propionic Acidemia Foundation does not recommend nor endorse any particular products, therapeutics, companies, or manufacturers.