Propionic Acidemia (PA)
Propionic acidemia (PA) is a condition where the body lacks an important enzyme called propionyl-CoA carboxylase (PCC). This enzyme helps break down certain proteins and fats into energy. Without it, the body struggles to process food properly, causing harmful toxins to collect in the blood. This buildup can lead to various health problems.1
Diagnosing PA
PA is often detected through routine newborn screening shortly after birth. However, if someone isn’t screened as a newborn, certain symptoms like poor feeding, tiredness, and muscle weakness may prompt doctors to conduct genetic tests for diagnosis.
Since PA is genetic, siblings of individuals with the condition might also consider getting tested. Late onset symptoms can escalate into an increased risk of more severe sickness, causing issues like severe vomiting or extreme drowsiness.1
Symptoms
Individuals with PA typically show symptoms of the condition within the first few weeks of their life. As they get older, their symptoms may affect nearly all their organ systems, potentially causing a metabolic crisis affecting brain function (encephalopathy), movement, digestion, and the person’s blood.2
Fatigue
Individuals may experience feelings of extreme sleepiness, low energy levels, and drowsiness.
Poor Muscle Growth
Low muscle tone, leading to reduced muscle strength in the body.
Inability to Grow and Gain Weight
Individuals with PA can’t convert food into energy, so they miss out on essential protein and fat needed for proper growth.
Dehydration
PA can cause vomiting in individuals, which in turn may lead to dehydration.
Recruiting Trials
Paramount Study
The Paramount Study is evaluating if an investigational treatment can reduce the symptoms in individuals 1 year of age or older with PA.
The Blueprint Study is an observational study in which researchers will review data from medical records in people with PA or methylmalonic acidemia (MMA) to learn how they manage their sym...
Frequently Asked Questions
All investigational medications and treatments must go through several stages of research (also called “phases of research”) to determine if it is safe and effective. Clinical trials are usually conducted in 4 phases that build on one another, and each phase is designed to answer certain questions in an ethical manner.
- Phase 1: A trial of a small number of participants to find safe doses, gather information about how the investigational treatment interacts with the human body, and look for side effects.
- Phase 2: A trial of more participants to further evaluate how the investigational treatment affects the body, gather safety data, and monitor side effects.
- Phase 3: A trial with the largest number of participants to gather more safety data, see if the investigational treatment is effective, and compare it to existing treatments.
- Regulatory Approval: A regulatory agency reviews data from the clinical trial and determines if the investigational treatment is safe and effective for use in individuals with the condition.
- Phase 4: After receiving regulatory approval, the investigational treatment is made available to the public. This phase of research is used to continue to monitor the safety of the treatment, even after it has been approved for public use.
Children are not small adults. Adult treatments may not always work the same way in children, or some treatments may be better suited for children. Some conditions affect only children, so it is important for researchers to understand the safest and most effective dose of medication for children across all age ranges.
Yes, participation in any clinical trial is voluntary. Participants are free to discuss any questions with the trial doctor or trial team at any time. Participants also have the right to withdraw from the PAthway Trial at any time and for any reason.
Participants will receive compensation for their time as well as reimbursement for travel and other trial-related expenses.
For certain clinical trials, please contact Moderna to find out if your trial offers compensation.
