CureOTCD is a non-profit organization created by patients for patients. It means our core mission and values are rooted in patient experiences. We care deeply about our global rare disease community and we are on a quest to make impactful changes for those living with this serious, life-threatening condition.
Find a cure for early onset OTC Deficiency. Advocate for individualized treatment options beyond standard of care.
Children with OTCD will be diagnosed immediately after birth and treated promptly in accordance to their specific variant so that they can live a healthy life, free from metabolic crises.
Our work depends on meaningful collaborations with various stakeholders, innovative approaches to problem-solving, strong leadership and targeted therapies (mutation-specific).
Project Variant is a patient-led registry initiative meant to capture patient experiences with OTC Deficiency. Our registry initiative is unique in that it can be accessed by patients and clinicians/scientists to advance knowledge and support research. In addition to qualitative data, the registry will collect information regarding specific OTC mutations impacting families around the world.