About Homocystinuria
Classic homocystinuria is caused by deficiency of cystathionine beta-synthase (CBS), which leads to accumulation of homocysteine in the blood and urine. Elevated homocysteine causes multisystem complications including ectopia lentis (lens dislocation), intellectual disability, skeletal abnormalities resembling Marfan syndrome, and a markedly elevated risk of thromboembolic events including stroke. Pyridoxine (vitamin B6) responsiveness defines a milder subtype with better dietary treatment outcomes.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Homocystinuria trials.
Pyridoxine (B6) responsiveness testing is a prerequisite — responders and non-responders are enrolled in different trial arms
Plasma total homocysteine level is the primary efficacy endpoint and eligibility biomarker
Thromboembolic history significantly affects eligibility — anticoagulation requirements must be disclosed
mRNA and gene therapy trials are emerging — no prior gene therapy is a typical exclusion criterion
Patient Resources
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