Clinical Trial: Study of the Prevalence of TGFBI Corneal Dystrophies
Study Status: Enrolling by invitation
Recruit Status: Enrolling by invitation
Study Type: Observational
Official Title: Cross-Sectional Study of the Prevalence of TGFBI Corneal Dystrophies
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 Summary:
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 be
Sponsor: Avellino Labs USA, Inc.
Current Primary Outcome: Prevalence of the genetic mutations in the TGFBI gene will be measured by using buccal epithelium and real time PCR-based genetic analysis. [ Time Frame: One year ]
Original Primary Outcome: The overall prevalence of the dystrophies associated with mutations in the TGFBI gene in a geographically and ethnically diverse and meaningfully large North American sample population will be assessed. [ Time Frame: One year ]
Current Secondary Outcome:
Original Secondary Outcome:
Information By: Avellino Labs USA, Inc.
Dates:
Date Received: April 15, 2016
Date Started: April 2016
Date Completion: April 2017
Last Updated: April 21, 2016
Last Verified: April 2016
