Prevalence of DAO (diamino Oxidase) Deficiency in Newborns

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT06710366

Acronym

DAO-NEO-2022

Enrollment

200

Registered

2024-11-29

Start date

2023-02-28

Completion date

2024-06-26

Last updated

2024-11-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

DAO Genetic Variants

Keywords

DAO deficiency, DAO deficiency prevalence, AOC1 gene variants, SNPs, single-nucleotide polymorphisms

Brief 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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

0 Days to 3 Days

Healthy volunteers

Yes

Inclusion criteria

* Newborns * Both sexes * Explicit acceptance of the parents or guardians of participation through the signature of the informed consent

Exclusion criteria

* None

Design outcomes

Primary

Measure	Time frame	Description
AOC1 gene variants	In a range from day of birth up to 3 days of life	DAO deficiency will be defined as the presence of at least one of the SNPs of the AOC1 gene described previously, with reference rs10156191, rs1049742, rs1049793 and rs2052129

Secondary

Measure	Time frame	Description
Sex	In a range from day of birth up to 3 days of life	Sex
Demographic characteristics	In a range from day of birth up to 3 days of life	Ethnicity

Countries

Spain

Outcome results