Study of the Prevalence of TGFBI Corneal Dystrophies

• ClinicalTrials.gov Identifier: NCT02746055
• Recruitment Status: Unknown
• First Posted: April 21, 2016
• Last Update Posted: April 22, 2016
• Sponsor: Avellino Labs USA, Inc.
• Information provided by (Responsible Party): Avellino Labs USA, Inc.

Study Description

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.

Condition or disease
Corneal Dystrophy

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 Design

• Study Type: Observational
• Estimated Enrollment: 20000 participants
• Time Perspective: Cross-Sectional
• Official Title: Cross-Sectional Study of the Prevalence of TGFBI Corneal Dystrophies
• Study Start Date: April 2016
• Estimated Primary Completion Date: December 2016
• Estimated Study Completion Date: April 2017

Groups and Cohorts

Outcome Measures

Primary Outcome Measures :

1. 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 ]
   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.

Biospecimen Retention:   Samples With DNA

buccal epithelial swabs

Eligibility Criteria

• Ages Eligible for Study: 18 Years and older (Adult, Older Adult)
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No
• Sampling Method: Non-Probability Sample

Study Population

Patients presenting to the clinical site for refractive surgery consultation or routine ocular examination who are:

Criteria

Inclusion Criteria:

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

Exclusion Criteria:

• None

Contacts and Locations

Sponsors and Collaborators

Avellino Labs USA, Inc.

Investigators

• Study Director: Anthony J Aldave, MD; UCLA Stein Eye Institute

More Information

Publications:

Aldave AJ, Sonmez B, Forstot SL, Rayner SA, Yellore VS, Glasgow BJ. A clinical and histopathologic examination of accelerated TGFBIp deposition after LASIK in combined granular-lattice corneal dystrophy. Am J Ophthalmol. 2007 Mar;143(3):416-9. Epub 2006 Dec 29.

Banning CS, Kim WC, Randleman JB, Kim EK, Stulting RD. Exacerbation of Avellino corneal dystrophy after LASIK in North America. Cornea. 2006 May;25(4):482-4.

Roh MI, Grossniklaus HE, Chung SH, Kang SJ, Kim WC, Kim EK. Avellino corneal dystrophy exacerbated after LASIK: scanning electron microscopic findings. Cornea. 2006 Apr;25(3):306-11.

Jun RM, Tchah H, Kim TI, Stulting RD, Jung SE, Seo KY, Lee DH, Kim EK. Avellino corneal dystrophy after LASIK. Ophthalmology. 2004 Mar;111(3):463-8.

Lee JH, Cristol SM, Kim WC, Chung ES, Tchah H, Kim MS, Nam CM, Cho HS, Kim EK. Prevalence of granular corneal dystrophy type 2 (Avellino corneal dystrophy) in the Korean population. Ophthalmic Epidemiol. 2010 Jun;17(3):160-5. doi: 10.3109/09286581003624939.

Lakshminarayanan R, Chaurasia SS, Anandalakshmi V, Chai SM, Murugan E, Vithana EN, Beuerman RW, Mehta JS. Clinical and genetic aspects of the TGFBI-associated corneal dystrophies. Ocul Surf. 2014 Oct;12(4):234-51. doi: 10.1016/j.jtos.2013.12.002. Epub 2014 Jul 18. Review.

• Responsible Party: Avellino Labs USA, Inc.
• ClinicalTrials.gov Identifier: NCT02746055
• Other Study ID Numbers: Avel2016PS
• First Posted: April 21, 2016
• Last Update Posted: April 22, 2016
• Last Verified: April 2016

Individual Participant Data (IPD) Sharing Statement:

• Plan to Share IPD: No

Additional relevant MeSH terms:

Corneal Dystrophies, Hereditary; Corneal Diseases; Eye Diseases; Eye Diseases, Hereditary; Genetic Diseases, Inborn