Keratoconus - Screening in Patients With Downs Syndrome

NCT07800975 | Completed

• 1 other identifier: 1-10-72-38-25
• Study Type: observational
• Target: 137
• Locations: 1 country
• Sites: 1

Brief Summary

The initial purpose of the study is to determine the true tomographic based age-specific prevalence of keratoconus among Danish patients with Downs Syndrome. If, as expected, the prevalence is sizeable, the next step is to determine the optimal age for screening - considering both sensitivity and specificity as well as the need for early diagnosis in order to preserve a good visual acuity with glasses. Lastly, the overall purpose based on the finding in the study is to evaluate if a tomographic screening program for keratoconus among patients with Downs syndrome is beneficial in Denmark. In addition, a sub-study will further have the purpose to investigate whether patients with Downs syndrome are using optimal correction. With the purpose of generating knowledge about refraction of this specific patient group - independent of whether they are diagnosed with keratoconus or not. The study will invite all persons with a genetic test either prenatal or postnatal showing trisomi 21 / Downs syndrom in Denmark and between the age og 10 and 20 years of age.

Conditions

Tomography; Visual Acuity; Refraction Error

Outcome Measures

Primary Outcomes (1)

• Corneal tomography

  Corneal tomography to determine if the participant has keratoconus or not

  Baseline, single time point when the study participants are included in the study

Study Arms (1)

Persons with Trisomi 21 / Downs syndrom, 10-20 years of age

The group is identified based on genetic testing either prenatal or postnatal

Eligibility Criteria

• Age: 10 Years - 20 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

All persons with Downs syndrom in the relevant agegroup living in Denmark will be invited to the study

You may qualify if:

• genetic diagnosis of trisomi 21 / downs syndrome

You may not qualify if:

• inability to have cornea tomography performed

Sponsors & Collaborators

• University of Aarhus: lead

Study Sites (1)

Aarhus University Hospital

Aarhus, 8200, Denmark

Location

MeSH Terms

Conditions

Refractive Errors

Condition Hierarchy (Ancestors)

Eye Diseases

Study Officials

• Sashia Bennett, MD, PhD

  University of Aarhus

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 28, 2026
• First Posted: September 2, 2026
• Study Start: September 15, 2025
• Primary Completion: June 1, 2026
• Study Completion: June 1, 2026
• Last Updated: September 2, 2026

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

DK (1)