Study of the Prevalence of TGFBI Corneal Dystrophies

Status Enrolling by invitation

Clinical Trial 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.

Clinical Trial 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 Design

Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT02746055
Study type	Observational
Source	Avellino Labs USA, Inc.
Contact
Status	Enrolling by invitation
Phase	N/A
Start date	April 2016
Completion date	April 2017

View Details

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Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.