This study is currently not recruiting participants.

A Multicenter Observational Prospective Natural History Study of Homocystinuria due to Cystathionine Beta-synthase Deficiency in Pediatric and Adult Patients

Investigation of Homocystinuria and Its Progression

Not Recruiting
100 years or below
All
Phase N/A

Brief description of study.

This study is being done to learn more about homocystinuria and the course of the condition.

Detailed description of study

This study is being done to learn more about homocystinuria and the course of the condition.

Eligibility of study

You may be eligible for this study if you meet the following criteria:

  • Conditions: Cystathionine Beta-synthase Deficiency,Homocystinuria
  • Age: 100 years or below
  • Gender: All

This study investigates homocystinuria, a rare genetic disorder that affects the metabolism of certain amino acids. The purpose is to understand how this condition progresses over time and its impact on patients.

Participants will undergo various assessments to monitor their health and gather information on the progression of homocystinuria. These may include blood tests, physical exams, and questionnaires to collect data on symptoms and overall health.

  • Who can participate: Individuals aged 18 and older diagnosed with homocystinuria are eligible to participate. Key eligibility factors include stable health status and no recent changes in medication regimen.
  • Study details: Participants will take part in assessments that may involve blood tests, physical exams, and answering questionnaires about their health. The study does not involve any investigational medication or placebo.
Updated on 19 Feb 2024. Study ID: 1802378653

Interested in the study?

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