By InvitationNot Applicable

Incidence and Risk Factors of Ocular Complications Among Patients With Homocystinuria

Saudi Arabia6 participantsStarted 2024-01-01

Plain-language summary

Background: Cysteine beta-synthase (CBS) deficiency, often known as classic homocystinuria (HCU), is an uncommon inborn mistake in methionine metabolism. Developmental delay, intellectual incapacity, skeletal and vascular symptoms, and ocular abnormalities are possible main clinical characteristics. Objective: This study sought to describe the ocular anomalies that King Fahad Armed Forces Hospital, Jeddah, Saudi Arabia, HCU patients presented with between 2018 and 2022.

Who can participate

Age range20 Years – 30 Years

SexALL

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Inclusion Criteria: * All patients from all age groups who were diagnosed with homocystinuria between 2018 and 2022 were included, regardless of whether the diagnosis was made biochemically (by exhibiting hyperhomocysteinaemia and hypermethioninaemia) or genetically (by discovering biallelic pathogenic mutations in the CBS gene) Exclusion Criteria: * Patients with incomplete investigations for various reasons

What they're measuring

Autoref reading

Timeframe: After one year

Trial details

NCT IDNCT06545305

SponsorKing Fahad Armed Forces Hospital

Sponsor typeOTHER_GOV

Study typeOBSERVATIONAL

Primary completion2024-07-01

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