The mission of Propionic Acidemia ResearchNetwork (PARnet) is to facilitate communication between the research community, physicians and educators, in order to advance the development of better treatments and a cure for PA. Propionic acidemia affects patients and families in often devastating ways, physically, financially and emotionally. The cost of caring for a PA child increases each year and will continue to burden national medical systems until we have a cure for this disorder. PARnet is focused on finding researchers who will pursue translational research to move laboratory discoveries to clinical realities for PA patients.
Research on various aspects of PA has continued for over 30 years, but we still have much to learn before we can develop a true cure for PA patients and their families. Propionic acidemia is a multi-faceted disorder that is complicated by each child's individual genetics which makes genotype/phenotype correlations difficult to define. Multiple organ systems are involved in this disorder, a complication which has hindered progress in developing treatments that can be applied to all PA patients equally. Propionic Acidemia ResearchNetwork believes, however, that if enough minds from the academic research and medical communities focus on these issues that a real cure will be found in our children's lifetimes.
The goal of PARnet is to inspire new ideas and assist research leaders to develop new treatments and one day cure propionic acidemia. Translational research is an absolute necessity to develop new therapies for patients suffering from rare diseases such as PA.
Please join us in our mission to find those individuals and to support their research efforts!
Understanding Propionic Acidemia Today: Finding New Treatment Options
Fortunately PA patients today have specially calibrated low-protein formulas which are the basis of metabolic regulation. Unfortunately, this type of metabolic control is tentative at best and relies on constant vigilance for PA's to remain stable. The threat of decompensation is ongoing, resulting in tremendous amounts of work for caregivers. Enzyme replacement therapy is unavailable for PA, as a functional delivery method has not been studied or developed. PA patients need new treatments and the development of a viable gene therapy to address the heart of the problem: replace the patient's altered PCCA or PCCB genes with functional copies so the patient can produce enough PCC (Propionyl-CoA carboxylase) to consume a normal diet for growth and development..
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PROPIONIC ACIDEMIA RESEARCH PA Pathophysiology, Gene Therapy, Enzyme Studies
The current state of treating PA by Dr. Mendel Tuchman
Forward by Dr. James Leonard
Disclaimer: This website is intended for informational purposes only; to raise awareness of the needs of PA patients and to further PA research studies. It is not intended as medical advice or to replace information you receive from your physician. If you have PA, or you suspect your child may have PA, please see your physician for medical advice.