Translational study to assess the functional role of genetic variability in the DDAH1 and DDAH2 genes in the response to hypobaric hypoxia at high altitude in healthy humans

Translational study to assess the functional role of genetic variability in the DDAH1 and DDAH2 genes in the response to hypobaric hypoxia at high altitude in healthy humans - ALTIGENE

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00035655

Enrollment

250

Registered

2025-01-06

Start date

2024-05-08

Completion date

Unknown

Last updated

2026-02-02

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Healthy human volunteers

Interventions

Group 1: Healthy human volunteers who are homozygous major for DDAH1 rs233112 and heterozygous for DDAH2 rs805304 Group 2: Healthy human volunteers who are homozygous minor for DDAH1 rs233112 and he

Eligibility

Sex/Gender

All

Age

18 Years to 40 Years

Inclusion criteria

Inclusion criteria: 1. Healthy human individuals of both sexes aged 18 – 40 years; 2. Signed written informed consent form.

Exclusion criteria

Exclusion criteria: 1. Any chronic somatic or psychic disease in the medical history, specifically any pulmonary disease like bronchial asthma; 2. Presence of cardiovascular risk factors, specifically hypertension (treated, or untreated blood pressure > 140 / 90 mm Hg), known presence of hyperlipidemia and / or diabetes mellitus; 3. Current smoking or previous smoking within the last 12 months.

Design outcomes

Primary

Measure	Time frame
The difference in arterial oxygen saturation during sub-maximal physical exercise at high altitude in healthy humans homozygous for the major or minor allele of the DDAH1 rs233112 or for the DDAH2 rs805304 single nucleotide polymorphism.	—

Secondary

Measure	Time frame
1. The difference in echocardiographic parameters of pulmonary pressure (right ventricular pressure gradient, systolic pulmonary arterial pressure, estimated mean pulmonary arterial pressure) during 7 days of exposure to high altitude hypoxia in healthy humans homozygous for the major or minor allele of the DDAH1 rs233112 or for the DDAH2 rs805304 single nucleotide polymorphism. 2. The difference in change of plasma concentrations of L-arginine-related metabolites over time during 7 days of exposure to high altitude hypoxia in healthy humans homozygous for the major or minor allele of the DDAH1 rs233112 or for the DDAH2 rs805304 single nucleotide polymorphism. 3. The difference in change of endothelium-dependent, flow-mediated vasodilation over time during 7 days of exposure to high altitude hypoxia in healthy humans homozygous for the major or minor allele of the DDAH1 rs233112 or for the DDAH2 rs805304 single nucleotide polymorphism.	—

Measure

Time frame

1. The difference in echocardiographic parameters of pulmonary pressure (right ventricular pressure gradient, systolic pulmonary arterial pressure, estimated mean pulmonary arterial pressure) during 7 days of exposure to high altitude hypoxia in healthy humans homozygous for the major or minor allele of the DDAH1 rs233112 or for the DDAH2 rs805304 single nucleotide polymorphism. 2. The difference in change of plasma concentrations of L-arginine-related metabolites over time during 7 days of exposure to high altitude hypoxia in healthy humans homozygous for the major or minor allele of the DDAH1 rs233112 or for the DDAH2 rs805304 single nucleotide polymorphism. 3. The difference in change of endothelium-dependent, flow-mediated vasodilation over time during 7 days of exposure to high altitude hypoxia in healthy humans homozygous for the major or minor allele of the DDAH1 rs233112 or for the DDAH2 rs805304 single nucleotide polymorphism.

—

Countries

Germany

Contacts

Public ContactRainer Böger

Universitätsklinikkum Hamburg-Eppendorf

boeger@uke.de+49 40 7410 59759

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 7, 2026