DAO Genetic VariantsDAO-NEO-2022NCT06710366
Prevalence of DAO (diamino Oxidase) Deficiency in Newborns
An observational study of DAO Genetic Variants, run by AB Biotek at 1 site in Spain.
Trial summary
Observational study to estimate the prevalence of genetic DAO deficiency in the population. Read more about this study
- Who is it for?
- Ages 0 to 3 daysHealthy volunteers can take part
- Conditions the study is for
- DAO Genetic Variants
- How many people
- 200 participants
- Where
- 1 siteSpain
- Study dates
- 28 Feb 2023to 26 Jun 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 to 3 days
- All sexes
- Healthy volunteers accepted
- Child
Study population: Newborns born in Hospital Universitari Genreal de Catalunya during the period of study
Who may be able to join
- Newborns
- Both sexes
- Explicit acceptance of the parents or guardians of participation through the signature of the informed consent
Who cannot join
- None
Trial locations and contacts
1 site in 1 country.
Spain1 site
Hospital General de Catalunya
Sant Cugat del Vallès, Barcelona, 08195
About this study
Observational study to estimate the prevalence of genetic DAO deficiency in the population.
Read the 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.
- Conditions
- DAO Genetic Variants
- Keywords
- DAO deficiency, DAO deficiency prevalence, AOC1 gene variants, SNPs, single-nucleotide polymorphisms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Newborns | Newborns born at the centre |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: In a range from day of birth up to 3 days of life
Secondary outcomes (2)
Sex
Sex
Measured: In a range from day of birth up to 3 days of life
Demographic characteristics
Ethnicity
Measured: In a range from day of birth up to 3 days of life
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Nov 2024
- Study start28 Feb 2023
- Primary completion21 Jun 2024
- Study completion26 Jun 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for DAO Genetic VariantsStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 200 participants (actual)
Sponsor and investigators
- Lead sponsor
- AB Biotek
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Grupo Hospitalario Quironsalud-Catalunya, Hospital Universitari General de Catalunya, Quironsalud
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06710366
- Sponsor's protocol ID
- DAO-NEO-2022
- Acronym
- DAO-NEO-2022
- Status last verified
- Nov 2024
- First submitted
- 26 Nov 2024
- Last updated
- 29 Nov 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: AOC1 genetic SNPs prevalence in the studied population
Publications
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.
PubMed 38541885Lopez 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.
PubMed 39200725Ponce 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.
PubMed 37959335Izquierdo-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.
PubMed 28624934Schnedl 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.
PubMed 30836736
Study at a glance
From the registry record, last updated by the sponsor on 29 Nov 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prevalence of DAO (diamino Oxidase) Deficiency in Newborns
- ClinicalTrials.gov ID
- NCT06710366
- Acronym / sponsor ID
- DAO-NEO-2022 / DAO-NEO-2022
- Conditions
- DAO Genetic Variants
- Keywords
- DAO deficiency, DAO deficiency prevalence, AOC1 gene variants, SNPs, single-nucleotide polymorphisms
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 200 participants (actual)
- Lead sponsor
- AB BiotekIndustry (pharma, biotech, devices)
- Collaborators
- Grupo Hospitalario Quironsalud-Catalunya, Hospital Universitari General de Catalunya, Quironsalud
- Study start
- 28 Feb 2023 (actual)
- Primary completion
- 21 Jun 2024 (actual)
- Study completion
- 26 Jun 2024 (actual)
- First posted
- 29 Nov 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Newborns | – | –Newborns born at the centre |
Who may qualify
- Ages
- 0 to 3 days
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
- Study population
- Newborns born in Hospital Universitari Genreal de Catalunya during the period of study
Key inclusion criteria (3 listed)
- Newborns
- Both sexes
- Explicit acceptance of the parents or guardians of participation through the signature of the informed consent
Key exclusion criteria (1 listed)
- None
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
2 secondary outcomes
Sex
Time frame: 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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Nov 2024.
- Background: PubMed 38541885Blasco-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.
- Background: PubMed 39200725Lopez 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.
- Background: PubMed 37959335Ponce 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.
- Background: PubMed 28624934Izquierdo-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.
- Background: PubMed 30836736Schnedl 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.
- Individual participant dataSharing planned: Yes. AOC1 genetic SNPs prevalence in the studied population
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of DAO Genetic Variants, run by AB Biotek at 1 site in Spain.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 29 Nov 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
AOC1 gene variants (time frame: In a range from day of birth up to 3 days of life). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06710366, which also lists 5 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Nov 2024.