Homocystinuria Due to CBS Deficiency research hub

Natural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)

This study looks at how Homocystinuria, a rare genetic condition, affects children and adults. Researchers want to understand its natural progression in people aged 1 to 65 receiving standard care, to help improve treatments in the future.