Publications by authors named "V Sikirica"
Article Synopsis
- Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare illnesses that affect how the body processes certain substances, and they can make patients very sick.
- Researchers want to create a special questionnaire called the Methylmalonic Acidemia and Propionic Acidemia Questionnaire (MMAPAQ) that helps caregivers share important information about symptoms of these conditions.
- They interviewed caregivers and some patients to understand the main signs and symptoms of MMA and PA, and they found consistent feedback to help develop this new questionnaire.
Article Synopsis
- Propionic acidemia (PA) is a rare metabolic disorder that disrupts amino acid metabolism.
- A systematic review of 94 PA patients who had liver transplants showed a 62% survival probability at age 33 and a median survival of 40 years.
- Despite liver transplantation, PA patients still face a significant survival disadvantage compared to the general population.
Propionic acidaemia is a rare disorder caused by defects in the propionyl-coenzyme A carboxylase α or β (PCCA or PCCB) subunits that leads to an accumulation of toxic metabolites and to recurrent, life-threatening metabolic decompensation events. Here we report interim analyses of a first-in-human, phase 1/2, open-label, dose-optimization study and an extension study evaluating the safety and efficacy of mRNA-3927, a dual mRNA therapy encoding PCCA and PCCB. As of 31 May 2023, 16 participants were enrolled across 5 dose cohorts.
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