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Prevalence of DAO (diamino Oxidase) Deficiency in Newborns

NCT ID: NCT06710366

Last Updated: 2024-11-29

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

200 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-02-28

Study Completion Date

2024-06-26

Brief Summary

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

Detailed Description

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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

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DAO Genetic Variants

Keywords

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

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Study Groups

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Newborns

Newborns born at the centre

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

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

Exclusion Criteria

* None
Minimum Eligible Age

0 Days

Maximum Eligible Age

3 Days

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Grupo Hospitalario Quironsalud-Catalunya

UNKNOWN

Sponsor Role collaborator

Hospital Universitari General de Catalunya

OTHER

Sponsor Role collaborator

Quironsalud

OTHER

Sponsor Role collaborator

AB Biotek

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Hospital General de Catalunya

Sant Cugat del Vallès, Barcelona, Spain

Site Status

Countries

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Spain

References

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Blasco-Fontecilla H, Bella-Fernandez M, Wang P, Martin-Moratinos M, Li C. Prevalence and Clinical Picture of Diamine Oxidase Gene Variants in Children and Adolescents with Attention Deficit Hyperactivity Disorder: A Pilot Study. J Clin Med. 2024 Mar 14;13(6):1659. doi: 10.3390/jcm13061659.

Reference Type BACKGROUND
PMID: 38541885 (View on PubMed)

Lopez Garcia R, Ferrer-Garcia J, Sansalvador A, Quera-Salva MA. Prevalence of Diamine Oxidase Enzyme (DAO) Deficiency in Subjects with Insomnia-Related Symptoms. J Clin Med. 2024 Aug 6;13(16):4583. doi: 10.3390/jcm13164583.

Reference Type BACKGROUND
PMID: 39200725 (View on PubMed)

Ponce Diaz-Reixa J, Aller Rodriguez M, Martinez Breijo S, Suanzes Hernandez J, Ruiz Casares E, Perucho Alcalde T, Bohorquez Cruz M, Mosquera Seoane T, Sanchez Merino JM, Freire Calvo J, Fernandez Suarez P, Chantada Abal V. Lower Urinary Tract Symptoms (LUTS) as a New Clinical Presentation of Histamine Intolerance: A Prevalence Study of Genetic Diamine Oxidase Deficiency. J Clin Med. 2023 Oct 31;12(21):6870. doi: 10.3390/jcm12216870.

Reference Type BACKGROUND
PMID: 37959335 (View on PubMed)

Izquierdo-Casas J, Comas-Baste O, Latorre-Moratalla ML, Lorente-Gascon M, Duelo A, Vidal-Carou MC, Soler-Singla L. Low serum diamine oxidase (DAO) activity levels in patients with migraine. J Physiol Biochem. 2018 Feb;74(1):93-99. doi: 10.1007/s13105-017-0571-3. Epub 2017 Jun 17.

Reference Type BACKGROUND
PMID: 28624934 (View on PubMed)

Schnedl WJ, Lackner S, Enko D, Schenk M, Holasek SJ, Mangge H. Evaluation of symptoms and symptom combinations in histamine intolerance. Intest Res. 2019 Jul;17(3):427-433. doi: 10.5217/ir.2018.00152. Epub 2019 Mar 7.

Reference Type BACKGROUND
PMID: 30836736 (View on PubMed)

Other Identifiers

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DAO-NEO-2022

Identifier Type: -

Identifier Source: org_study_id