Study of the Prevalence of TGFBI Corneal Dystrophies

• Conditions: Corneal Dystrophy

• Registration Number: NCT02746055
• Lead Sponsor: Avellino Labs USA, Inc.

Brief Summary

To determine the prevalence of 5 specific corneal dystrophies in a subgroup of patients seeking refractive surgery, and to use that information to inform them and their refractive surgeons of the presence of the corneal dystrophies so that they may make safer choices when considering refractive surgery.

Detailed Description

It is well established in the peer-reviewed literature that elective keratorefractive surgery is contraindicated in individuals with granular corneal dystrophy type 2 (GCD2).1,2,3,4 Although all reported cases of exacerbation of dystrophic stromal deposits have been in individuals with GCD2, it may be assumed that a similar accelerated deposition would occur in individuals with any of the TGFBI dystrophies, and thus elective keratorefractive surgery should be avoided in any individual with a TGFBI dystrophy. The commercially available Avellino Refractive Surgery Safety Test (Avellino Universal Test) offers an accurate, rapid and affordable way to screen for five corneal dystrophies associated with mutations in the TGFBI gene prior to keratorefractive surgery. These dystrophies are granular dystrophy type 1 (GCD1), GCD2, lattice corneal dystrophy type 1 (LCD1), Reis-Buckler corneal dystrophy, and Thiel- Behnke corneal dystrophy.

This is a multicenter, cross-sectional, observational study of the prevalence of TGFBI corneal dystrophies in a North American population. Patients presenting to the clinical site for an ocular examination with a refractive complaint (non-medical complaint) or for refractive surgery consultation will be asked to participate in this study. Prior to the collection of any study data, Informed Consent will be obtained.

A a serial number / bar code controlled case report form (CRF) single nucleotide variants implicated in the pathogenesis of the TGFBI corneal dystrophies. The CRF will be used to collect demographic information from the patient. Slit lamp examination of the corneas will be performed, and the presence or absence of corneal opacities, whether characteristic or not of a TGFBI dystrophy, will be documented on the CRF form.

Once all data has been collected, descriptive statistics will be computed to identify the prevalence of each of the TGFBI corneal dystrophies as defined by the genotype. Demographic data will be compared between unaffected individuals and those identified to have a coding region mutation associated with one of the five aforementioned TGFBI corneal dystrophies.

Study Timeline

• Status Verified: 2016-04
• Study Start: 2016-04
• Study First Submitted: 2016-04-15
• Study First Submitted QC: 2016-04-18
• Study First Posted: 2016-04-21
• Last Update Submitted: 2016-04-21
• Last Update Posted: 2016-04-22
• Primary Completion: 2016-12
• Study Completion: 2017-04

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 20000

Inclusion Criteria

• At least 18 years of age
• Able and willing to provide written informed consent and sign a HIPAA form.

Exclusion Criteria

• None

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Prevalence of the genetic mutations in the TGFBI gene will be measured by using buccal epithelium and real time PCR-based genetic analysis.	One year	Descriptive statistics will be computed to identify prevalence of each of the TGFBI corneal dystrophies as defined by the genotype. Demographic data will be analyzed.