Natural History Study for Achromatopsia

Plain-language summary

This study examines the natural course of achromatopsia, an inherited eye disease, over time through eye examinations. It enrolled people aged 3 and over with molecularly proven achromatopsia or a typical clinical presentation. The study was a non-phased study and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Completed

Sponsor

MeiraGTx UK II Ltd

Intervention

Ocular assessments

Start date

9/13/2011

Estimated completion

5/18/2023

Countries

United Kingdom

Related genes

Locations

• London, United Kingdom

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

* Patients with molecularly proven Achromatopsia or a typical clinical Achromatopsia phenotype with genetic screening pending.
* Minimum subject age of 3 years.
* Able to give consent/parent or guardian able to give consent.

Exclusion Criteria:

* Patients unable or unwilling to undertake consent or clinical testing.
* Patients unwilling to donate a blood sample in order to establish the genetic cause of their condition.