Natural History Studies

Natural history studies are critical for rare diseases as they provide knowledge needed to understand current clinical outcomes and help establish research priorities. Your participation can directly accelerate discoveries that may impact future treatments.

Pyridoxine-Dependent Epilepsy

• The International PDE registry for patients with pyridoxine-dependent epilepsy was set up in 2014 and has allowed us to understand the effect of current therapies, develop new treatment strategies, and better disease mechanisms.

Glutaric Aciduria Type 1

• The Coughlin Lab GA1 Natural History Study was started in 2026 with the goal to underand current clinical outcomes and align future resaerch goals with clinicain-scientist and pharma partners.
• The Rare Organic Acidemia Resaerch (ROAR) consortium.