Study of the Prevalence of TGFBI Corneal Dystrophies

NCT ID: NCT02746055

Last Updated: 2016-04-22

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

UNKNOWN

Total Enrollment

20000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-04-30

Study Completion Date

2017-04-30

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Corneal Dystrophy

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Study Time Perspective

CROSS_SECTIONAL

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

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

Exclusion Criteria

• None
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

Avellino Labs USA, Inc.

INDUSTRY

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Responsibility Role SPONSOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Anthony J Aldave, MD

Role: STUDY_DIRECTOR

UCLA Stein Eye Institute

References

Explore related publications, articles, or registry entries linked to this study.

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.

Reference Type BACKGROUND
PMID: 17317389 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 16670492 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 16633031 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 15019320 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 20455845 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 25284770 (View on PubMed)

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

Avel2016PS

Identifier Type: -

Identifier Source: org_study_id

More Related Trials

Additional clinical trials that may be relevant based on similarity analysis.

Initial Correction Keratoconus
NCT04918316 ACTIVE_NOT_RECRUITING NA
Cataract Refractive Suite Study
NCT02974140 TERMINATED NA
Corneal Tissue Inlay for Keratoconus
NCT02649738 ACTIVE_NOT_RECRUITING NA
Cornea Donor Study
NCT00006411 COMPLETED NA