Clinical trial NCT06710366: Prevalence of DAO (diamino Oxidase) Deficiency in Newborns
Official title: Prevalence of DAO (diamino Oxidase) Deficiency in Newborns
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: DAO Genetic Variants
Keywords: DAO deficiency
DAO deficiency prevalence
AOC1 gene variants
SNPs
single-nucleotide polymorphisms
Lead sponsor: AB Biotek
Sponsor class: INDUSTRY
Collaborators: name: Grupo Hospitalario Quironsalud-Catalunya
name: Hospital Universitari General de Catalunya
name: Quironsalud
First posted: 2024-11-29
Enrollment: 200
Sex: ALL
Minimum age (years): 0
Maximum age (years): 3
Standard ages: CHILD
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Newborns born in Hospital Universitari Genreal de Catalunya during the period of study

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.

Eligibility criteria: Inclusion Criteria:

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

Exclusion Criteria:

* None

Primary outcomes:
measure: AOC1 gene variants
timeFrame: In a range from day of birth up to 3 days of life
Secondary outcomes:
measure: Sex
timeFrame: In a range from day of birth up to 3 days of life
measure: Demographic characteristics
timeFrame: In a range from day of birth up to 3 days of life
Other outcomes:
Locations:
city: Sant Cugat del Vallès
country: Spain
facility: Hospital General de Catalunya
state: Barcelona
Study officials:
References:
citation: 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.
citation: 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.
citation: 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.
citation: 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.
citation: 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.