NCT06710366

Prevalence of DAO (diamino Oxidase) Deficiency in Newborns

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 200 (actual)
• Sponsor: AB Biotek · Industry
• Sex: All
• Age: 0 Days – 3 Days
• Healthy volunteers: Accepted

Summary

Observational study to estimate the prevalence of genetic DAO deficiency in the population.

Detailed description

Diamine oxidase (DAO) is an enzyme encoded by the AOC1 gene responsible for the degradation of extracellular histamine. There are different factors that can induce a decrease in the DAO activity, with genetic origin being the main one. Currently, multiple genes have been identified SNPs that can alter the correct functioning of the DAO. The four most relevant SNPs that lead to a reduction in the enzymatic activity of DAO or a transcriptional activity decreased in this are the following: c.47C\>T (rs10156191), c.995C\>T (rs1049742), c.1990C\>G (rs1049793) and c.-691G\>T (rs2052129). Clinical studies indicate that DAO deficiency has a high prevalence in diseases such as Migraine (87%), fibromyalgia (75%) or attention deficit hyperactivity disorder (ADHD) in children (75%). However, to date no study has been conducted exploring the prevalence gene of DAO deficiency in the general population. Thus, the objective of this study is to estimate the prevalence of genetic DAO deficiency in the population.

Conditions

• DAO Genetic Variants

Timeline

• Start date: 2023-02-28
• Primary completion: 2024-06-21
• Completion: 2024-06-26
• First posted: 2024-11-29
• Last updated: 2024-11-29

Locations

1 site across 1 country: Spain