Study of the Prevalence of TGFBI Corneal Dystrophies

NCT02746055 | Unknown

• 1 other identifier: Avel2016PS
• Study Type: observational
• Target: 20,000
• Locations: 0 countries
• Sites: N/A

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.

Conditions

Corneal Dystrophy

Outcome Measures

Primary Outcomes (1)

• Prevalence of the genetic mutations in the TGFBI gene will be measured by using buccal epithelium and real time PCR-based genetic analysis.

  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.

  One year

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

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

You may not qualify if:

• None

Sponsors & Collaborators

• Avellino Labs USA, Inc.: lead

Related Publications (6)

• 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. doi: 10.1016/j.ajo.2006.11.056. Epub 2006 Dec 29.

  PMID: 17317389 BACKGROUND

• 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. doi: 10.1097/01.ico.0000195949.93695.37.

  PMID: 16670492 BACKGROUND

• 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. doi: 10.1097/01.ico.0000183536.07275.9a.

  PMID: 16633031 BACKGROUND

• 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. doi: 10.1016/j.ophtha.2003.06.026.

  PMID: 15019320 BACKGROUND

• 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.

  PMID: 20455845 BACKGROUND

• 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.

  PMID: 25284770 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

buccal epithelial swabs

MeSH Terms

Conditions

Corneal Dystrophies, Hereditary

Condition Hierarchy (Ancestors)

Corneal Diseases; Eye Diseases; Eye Diseases, Hereditary; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Anthony J Aldave, MD

  UCLA Stein Eye Institute

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 15, 2016
• First Posted: April 21, 2016
• Study Start: April 1, 2016
• Primary Completion: December 1, 2016
• Study Completion: April 1, 2017
• Last Updated: April 22, 2016

Record last verified: 2016-04

Data Sharing

• IPD Sharing: Will not share