Organic Acidemia Longitudinal and Natural History Studies
A natural history study is a type of observational research designed to follow the progression of a disease over time in the absence of specific interventions or treatments. Instead of testing a new drug, researchers track a group of individuals to document how a condition naturally evolves—from the earliest symptoms through various stages of progression. For Organic Acidemias (OAs), this means meticulously collecting data on clinical outcomes, biochemical markers, and the lived experiences of patients to build a comprehensive “roadmap” of the disorder.
Why These Studies are Vital for the OA Community
For rare conditions like Organic Acidemias, natural history studies are the essential foundation for medical breakthroughs. They are important for several key reasons:
Setting the Benchmark: Without knowing exactly how an OA progresses on its own, it is nearly impossible for scientists to measure whether a new treatment is actually working during clinical trials.
Refining Standard of Care: By observing patterns across many patients, doctors can develop better clinical guidelines, leading to more consistent and effective management of OAs worldwide.
Empowering Patients: Participating in these studies gives the OA community a powerful voice, ensuring that the data used to develop future therapies reflects the real-world challenges and needs of those living with the condition.
Organic Acidemia Natural History Registry
This natural history study is run by the Organic Acidemia Association and is for all organic acidemia patients and caretakers. Data collection includes demographics, diagnosis, treatment, genetics, and quality of life.
Contact: research@oaanews.org
International PDE Registry
This study is open to patients with pyridoxine dependent epilepsy. It is sponsored by the International PDE Consortium and the University of Colorado Anschutz. data collection includes clinical history, seizure control, developmental outcomes, biomarkers, genotype, and response to lysine restriction.
Contact: Kristine.Pauly@cuanschutz.edu
GA-1 Natural History Study
This study is open to patient with Glutaric Aciduria type 1. It is sponsored by the University of Colorado Anschutz. Data collection includes laboratory results, neuroimaging reports, clinical reports including diagnosis and treatment history, and development/IQ testing.
Contact: Kristine.Pauly@ucanschutz.edu
Propionic Acidemia International Patient Registry
This study is open to patients with propionic acidemia. It is sponsored by the Propionic Acidemia Foundation (
PAF). Data collection includes diagnosis details, treatment, disease progression, quality of life, and genetics.
Contact: paf@pafoundation.com
European Inherited Metabolic Disorders (E-IMD) Registry
This study is open to patients with MMA, PA, IVA, and GA1. It is sponsored by the E-IMD Consortium and funded by the European Union. Participation requires a baseline visit and yearly follow-ups.
Contact: registry@e-imd.org
NIH Natural History of Propionic Acidemia
This study is open to patients with propionic acidemia (PA). This studied is led by Dr. Charles P. Venditti, MD, PhD and funded by the National Human Genome Research Institute (NHGRI). This study requires a visit to the NIH and collects data including clinical history, physical exams, and laboratory testing.
NIH Clinical and Basic Investigations of MMA
This study is open to patients with methylmalonic acidemia (MMA) and Cobalamin deficiencies. This studied is led by Dr. Charles P. Venditti, MD, PhD and funded by the National Human Genome Research Institute (NHGRI). This study requires a visit to the NIH and collects data including clinical history, physical exams, and laboratory testing.