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Study of the Prevalence of TGFBI Corneal Dystrophies

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02746055
Recruitment Status : Unknown
Verified April 2016 by Avellino Labs USA, Inc..
Recruitment status was:  Enrolling by invitation
First Posted : April 21, 2016
Last Update Posted : April 22, 2016
Information provided by (Responsible Party):
Avellino Labs USA, Inc.

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.

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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

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

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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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:

Inclusion Criteria:

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

Exclusion Criteria:

• None

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02746055

Sponsors and Collaborators
Avellino Labs USA, Inc.
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Study Director: Anthony J Aldave, MD UCLA Stein Eye Institute
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Responsible Party: Avellino Labs USA, Inc. Identifier: NCT02746055    
Other Study ID Numbers: Avel2016PS
First Posted: April 21, 2016    Key Record Dates
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:
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Corneal Dystrophies, Hereditary
Corneal Diseases
Eye Diseases
Eye Diseases, Hereditary
Genetic Diseases, Inborn