FDA approval of drug for rare genetic disorder gives families hope

OHSU’s pioneering research, clinical trials led to better testing, approval for CTX disease

By Angela Yeager March 19, 2025 Portland, Oregon

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Researchers at OHSU discovered biomarkers for CTX

Gladis Reyes Pimentel, core scientist, works in the DeBarber lab. Researchers at OHSU discovered biomarkers essential to identifying and treating the disease CTX, which led to a clinical trial at OHSU that in February culminated in FDA approval of an effective treatment for patients. (OHSU/Christine Torres Hicks)

Identifying and treating CTX

From left: Sonja Connor, M.S., R.D., L.D., professor emeritus; Igor Landais, Ph.D., VGTI quality system director; Andrea DeBarber, Ph.D.; and Maya Fowler, assistant core scientist. Researchers at OHSU discovered biomarkers essential to identifying and treating the disease, which led to a clinical trial at OHSU that in February culminated in FDA approval of an effective treatment for patients. (OHSU/Christine Torres Hicks)

Eric Stewart (Courtesy)

Andrea DeBarber, Ph.D. (OHSU)

P. Barton Duell, M.D. (OHSU)

Igor Landais, Ph.D. (OHSU)

Susan and Eric Stewart (Courtesy)

Researchers at OHSU discovered CTX biomarkers

From left: Gladis Reyes Pimentel, core scientist; Sonja Connor, M.S., R.D., L.D., professor emeritus; Andrea DeBarber, Ph.D.; Jenefer DeKoning, core scientist; Maya Fowler, assistant core scientist; and Igor Landais, Ph.D., VGTI quality system director. Researchers at OHSU discovered biomarkers essential to identifying and treating the disease CTX, which led to a clinical trial at OHSU that in February culminated in FDA approval of an effective treatment for patients. (OHSU/Christine Torres Hicks)

Andrew Chitty, M.B.A. (Courtesy)

FDA approval of drug for rare genetic disorder gives families hope

Eric Stewart has a rare disease known as CTX. His mother, Susan Stewart, brought him to OHSU for his diagnosis and she continues to advocate for CTX screening and treatment. Researchers at OHSU discovered biomarkers essential to identifying and treating the disease, which led to a clinical trial at OHSU that in February culminated in FDA approval of an effective treatment for patients.