Classic homocystinuria
MONDO:0009352Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.
Also known as: Homocystinuria due to Cystathionine Beta-Synthase Deficiency, classic homocystinuria, cystathionine beta-synthase deficiency, homocystinuria due to cystathionine beta-synthase deficiency, homocystinuria, B6-responsive and nonresponsive types, thrombosis, hyperhomocysteinemic, CBS deficiency, homocystinuria due to CBS deficiency
40 clinical trials for this condition and its sub-types.
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New drug pegtibatinase tested for rare metabolic disorder over two years
Disease control ENROLLING_BY_INVITATIONThis study tests the long-term safety and effectiveness of pegtibatinase in people with classical homocystinuria (HCU), a rare genetic disorder that prevents the body from breaking down certain amino acids. About 100 participants who completed earlier studies will receive the dru…
Phase: PHASE3 • Sponsor: Travere Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:38 UTC
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New vitamin supplements aim to make life easier for kids with rare metabolic disorders
Symptom relief OngoingThis study tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…
Phase: NA • Sponsor: NeoteriQ Ltd. • Aim: Symptom relief
Last updated Jun 27, 2026 13:00 UTC
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Massive genetic study aims to unlock secrets of rare metabolic diseases
Knowledge-focused ENROLLING_BY_INVITATIONThis study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …
Sponsor: Region Stockholm • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:38 UTC
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Study on COVID-19 and metabolic disorders pulled before it began
Knowledge-focused TerminatedThis study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…
Sponsor: University Hospital, Lille • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:37 UTC
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Free eye tests aim to catch vision loss early in harlem and washington heights
Knowledge-focused OngoingThis study offers free vision screenings to underserved adults over 40 living in affordable housing in Harlem and Washington Heights. The goal is to find eye problems like glaucoma, cataracts, and diabetic retinopathy early and connect people with follow-up care. About 749 partic…
Phase: NA • Sponsor: Columbia University • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:54 UTC