Prevalence of DAO (diamino Oxidase) Deficiency in Newborns (DAO-NEO-2022)

November 26, 2024 updated by: AB Biotek
Observational study to estimate the prevalence of genetic DAO deficiency in the population.

Study Overview

Status

Completed

Conditions

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.

Study Type

Observational

Enrollment (Actual)

200

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Spain
    • Barcelona
      • Sant Cugat del Vallès, Barcelona, Spain, 08195
        • Hospital General de Catalunya

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child

Accepts Healthy Volunteers

Yes

Sampling Method

Probability Sample

Study Population

Newborns born in Hospital Universitari Genreal de Catalunya during the period of study

Description

Inclusion Criteria:

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

Exclusion Criteria:

  • None

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Newborns
Newborns born at the centre

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
AOC1 gene variants
Time Frame: 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
In a range from day of birth up to 3 days of life

Secondary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

AB Biotek

Collaborators

Quironsalud
Hospital Universitari General de Catalunya
Grupo Hospitalario Quironsalud-Catalunya

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 28, 2023

Primary Completion (Actual)

June 21, 2024

Study Completion (Actual)

June 26, 2024

Study Registration Dates

First Submitted

November 26, 2024

First Submitted That Met QC Criteria

November 26, 2024

First Posted (Actual)

November 29, 2024

Study Record Updates

Last Update Posted (Actual)

November 29, 2024

Last Update Submitted That Met QC Criteria

November 26, 2024

Last Verified

November 1, 2024

More Information

Terms related to this study

Keywords

Other Study ID Numbers

  • DAO-NEO-2022

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

AOC1 genetic SNPs prevalence in the studied population

IPD Sharing Time Frame

According to legislation

IPD Sharing Supporting Information Type

  • STUDY_PROTOCOL
  • ICF
  • CSR

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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