Status:
ENROLLING_BY_INVITATION
Incidence and Risk Factors of Ocular Complications Among Patients With Homocystinuria
Lead Sponsor:
King Fahad Armed Forces Hospital
Conditions:
Complications
Eligibility:
All Genders
20-30 years
Brief 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, ...
Detailed Description
This retrospective research included 6 HCU patients. Demographic and clinical characteristics of patients as age, gender, comorbidities were collected. Relevant clinical and ophthalmic assessments, li...
Eligibility Criteria
Inclusion
- 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
- Patients with incomplete investigations for various reasons
Key Trial Info
Start Date :
January 1 2024
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
August 30 2024
Estimated Enrollment :
6 Patients enrolled
Trial Details
Trial ID
NCT06545305
Start Date
January 1 2024
End Date
August 30 2024
Last Update
August 13 2024
Active Locations (1)
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1
King Fahad Armed Forces Hospital
Jeddah, Saudi Arabia, 22522