Research opportunities

Studies and research opportunities for homocystinuria (HCU)

This page gathers research studies related to homocystinuria (HCU). Studies are organized first by recruitment region and then by study type to help families and individuals more easily find relevant opportunities.

Good to know: Recruitment status, study locations, and eligibility criteria may change. CanPKU+ may add additional notes about Canadian sites when available, but for the most current information please consult the official study record.

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Recruiting in Canada Recruiting in North America Recruiting worldwide Completed studies Registry

Studies recruiting in Canada

Medical treatments and interventional studies

Creatine Supplementation and Homocysteine Production
Status: Active, Not Recruiting
Disorder: Homocystinuria related metabolism research
Type: Exploratory metabolic study
NCT ID: NCT06495567
This study is investigating whether creatine supplementation can reduce the production of homocysteine by altering metabolic demand for methyl groups. Early work is being conducted in healthy volunteers.
View study details on ClinicalTrials.gov

Pegtibatinase for Classical Homocystinuria (HARMONY Study)
Status: Active, not recruiting
Disorder: Classical Homocystinuria (HCU)
Type: Interventional, Phase 3
NCT ID: NCT06247085

This Phase 3 study is evaluating pegtibatinase, an investigational enzyme replacement therapy for people with classical homocystinuria due to cystathionine beta synthase deficiency.

Observational studies

No studies are currently listed here. If we are missing something, please let us know at info@canpku.org.

Studies recruiting in North America

No studies are currently listed here. If we are missing something, please let us know at info@canpku.org.

Studies recruiting Worldwide

No studies are currently listed here. If we are missing something, please let us know at info@canpku.org.

Studies - Active - Not Recruiting

Clinical Study of DTX301 AAV-Mediated Gene Transfer for Ornithine Transcarbamylase (OTC) Deficiency
Status: Active, not recruiting
Disorder: UCD
Type: Interventional
NCT ID: NCT05345171
This Phase 3 study is evaluating DTX301, an investigational gene therapy for people age 12 and older with late-onset ornithine transcarbamylase (OTC) deficiency. The study is looking at whether DTX301 can help improve OTC function by maintaining safer plasma ammonia levels over time.

View study details on ClinicalTrials.gov

Completed or past studies

No studies are currently listed here. If we are missing something, please let us know at info@canpku.org.

Looking for a registry?

Registries help collect long-term data and strengthen research. If you are interested in enrolling in the HCU registry, please visit the page below.

Go to registry page