Prevalence of DAO (diamino Oxidase) Deficiency in Newborns

NCT06710366 | Completed

• 1 other identifier: DAO-NEO-2022
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

DAO Genetic Variants

Keywords

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

Outcome Measures

Primary Outcomes (1)

• AOC1 gene variants

  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 Outcomes (2)

• Sex

  In a range from day of birth up to 3 days of life

• Demographic characteristics

  In a range from day of birth up to 3 days of life

Study Arms (1)

Newborns

Newborns born at the centre

Eligibility Criteria

• Age: 0 Days - 3 Days
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• Sampling Method: Probability Sample

Study Population

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

You may qualify if:

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

You may not qualify if:

• None

Sponsors & Collaborators

• AB Biotek: lead
• Grupo Hospitalario Quironsalud-Catalunya: collaborator
• Hospital Universitari General de Catalunya: collaborator
• Quironsalud: collaborator

Study Sites (1)

Hospital General de Catalunya

Sant Cugat del Vallès, Barcelona, 08195, Spain

Location

Related Publications (5)

• 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.

  PMID: 38541885 BACKGROUND

• 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.

  PMID: 39200725 BACKGROUND

• 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.

  PMID: 37959335 BACKGROUND

• 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.

  PMID: 28624934 BACKGROUND

• 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.

  PMID: 30836736 BACKGROUND

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 26, 2024
• First Posted: November 29, 2024
• Study Start: February 28, 2023
• Primary Completion: June 21, 2024
• Study Completion: June 26, 2024
• Last Updated: November 29, 2024

Record last verified: 2024-11

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, ICF, CSR
• Time Frame: According to legislation

Locations

ES (1)