Natural History Study for Achromatopsia

MeiraGTx UK II Ltd85 enrolled

Overview

In preparation for human clinical trials we intend to undertake a detailed phenotypic study to help to identify patients who may be suitable for therapeutic intervention. In addition, with the recent availability of advanced imaging modalities, further detailed phenotypic investigations will also be valuable in helping to probe the relationship between structure and function and may shed light on disease mechanisms.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Achromatopsia

Interventions

Ocular assessmentsDIAGNOSTIC_TEST

Complete ocular examination, Axial length and corneal curvature, Optical Coherence Tomography, Visual acuity, Contrast sensitivity

Eligibility

Sex: ALLMin age: 3 YearsMax age: 100 Years

Medical Language ↔ Plain English

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.

Locations (1)

Moorfields Eye Hospital NHS Foundation Trust

London, United Kingdom

Outcomes

Primary Outcomes

Complete ocular examination

Time frame: 5 years

Axial length

Time frame: 5 years

Corneal curvature

Time frame: 5 years

Optical Coherence Tomography

Time frame: 5 years

Visual acuity

Time frame: 5 years

Contrast sensitivity

Time frame: 5 years

Data from ClinicalTrials.gov

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