Genetic markers for ACE inhibitor associated angioedema

Genetic analysis for C-2399A polymorphism of the XPNPEP2 gene in patients who have had ACE inhibitor associated angioedema compared to those without and healthy population control subjects - an observational study.

Status

Not yet recruiting

Phases

Unknown

Study type

Observational

Source

ANZCTR

Registry ID

ACTRN12611000188932

Acronym

GMAAA

Enrollment

160

Registered

2011-02-17

Start date

2011-03-01

Completion date

Unknown

Last updated

2020-01-13

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

Conditions

None listed

Brief summary

ACE inhibitors are a widely prescribed class of medications in Australia with established benefits in reducing mortality in a range of cardiovascular, endocrine and renal conditions. They are generally well tolerated in many patients, although they are assoicated with a range of adverse effects. One of these adverse effects is angioedema, which usually presents as non-pitting oedema of the subcutaneous tissues, usually around the head and neck. Occassionally airway obstruction may occur. While there are some recognised risk factors for ACE inhibitor associated angioedema, it is not possible to prospectively identify patients at particular risk. Improved methods to identify patients at risk may be useful to improve drug safety. One small study has identified a genetic marker, the single-nucleotide polymorphism, C-2399A of the XPNPEP2 gene which encodes plasma aminopeptidase P, for increased risk of ACE inhibitor associated angioedema. This study attempts to confirm the previous study and investigate the frequency of this genetic variant in the Australian population. We aim to enroll 40 patients who have had an episode of ACE inhibitor associated angioedema, and compare the frequency of the genetic variant in these patients with 120 control patients who have been exposed to ACE inhibitor, but have not had angioedema. We will also compare the frequency in a population sample, from healthy people.

Interventions

Study subjects will have had an episode of ACE inhibitor angioedema. This may have occured at some time in the past from 2005 to the present, or in the future. Cases will be identified from the Immunology Clinic at the Royal Adelaide Hospital, and private clinics of immunologists working at the RAH. Cases will be collected prospectively until a total of approximately 40 have been collected. Buccal cheek swabs will be used to obtain material for genetic analysis. Genetic analysis will be conducted to determine the frequency of occurrence of the C-2399A SNP of the XPNPEP2 gene. These cases will be compared with a control group, who have not had ACE inhibitor associated angioedema, who will be collected prospectively 2010 and ongoing. This is a genetic study, so samples will be collected at a single point in time. Individual patients will not be observed over a period of time.

Eligibility

Sex/Gender

All

Age

18 Years to 90 Years

Healthy volunteers

Inclusion criteria

patients with a history of ACE inhibitor associated angioedema

Exclusion criteria

angioedema due to other pathology ie C1 esterase inhibitor defiency, food or other drug allergy

Outcome results