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Does Complement Factor H Gene Polymorphism Play a Role in the Regulation of Vascular Tone in the Choroid?

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Medical University of Vienna

Status

Completed

Conditions

Macular Degeneration
Regional Blood Flow
Genetic Polymorphism
Ocular Physiology

Treatments

Procedure: Squatting

Study type

Interventional

Funder types

Other

Identifiers

NCT00708929
OPHT-040607

Details and patient eligibility

About

Age related macular degeneration (AMD) is a multifactorial disease with a strong genetic component. Most importantly a genetic polymorphism in the gene encoding for the complement factor H (CFH) has been recently identified which is highly associated with an increased risk of developing AMD. This Tyr402His polymorphism located on chromosome 1q31 has been implicated to play a role in the development of the disease.

Given that it is known that impaired regulation of choroidal vascular tone is present in patients with AMD, the current study seeks to investigate whether the Tyr402His polymorphism is associated with altered choroidal autoregulation in healthy subjects. For this purpose a total of 100 healthy volunteers will be included in order to test the hypothesis that an impaired regulation of choroidal blood flow is present in subjects with homozygous Tyr402His variant.

Enrollment

100 patients

Sex

All

Ages

18 to 45 years old

Volunteers

Accepts Healthy Volunteers

Inclusion criteria

  • Men and women aged between 18 and 35 years
  • Nonsmokers
  • Normal findings in the medical history and physical examination unless the investigator considers an abnormality to be clinically irrelevant
  • Normal ophthalmic findings, ametropy less than 3 diopters

Exclusion criteria

  • Regular use of medication, abuse of alcoholic beverages, participation in a clinical trial in the 3 weeks preceding the study
  • Treatment in the previous 3 weeks with any drug
  • Symptoms of a clinically relevant illness in the 3 weeks before the first study day
  • Blood donation during the previous 3 weeks

Trial design

Primary purpose

Basic Science

Allocation

Non-Randomized

Interventional model

Parallel Assignment

Masking

None (Open label)

100 participants in 2 patient groups

1
Other group
Description:
14 subjects homozygous HH for the Tyr402His single nucleotide polymorphism
Treatment:
Procedure: Squatting
2
Other group
Description:
14 subjects homozygous TT for the Tyr402His single nucleotide polymorphism
Treatment:
Procedure: Squatting

Trial contacts and locations

1

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Data sourced from clinicaltrials.gov

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