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OpenTrials
Completed

NCT Number: NCT04124185

Natural History Study for Achromatopsia

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.

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Key information

Conditions

Achromatopsia Color Vision Defects Cone Dystrophy Eye Diseases Eye Diseases, Hereditary Nervous System Diseases Neurologic Manifestations Pathological Conditions, Signs and Symptoms Sensation Disorders Signs and Symptoms Vision Disorders

Age range

3 year–100 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Moorfields Eye Hospital NHS Foundation Trust

London, United Kingdom

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Ocular assessments

Diagnostic Test

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

Primary outcomes

  1. Complete ocular examination

    Time frame: 5 years

  2. Axial length

    Time frame: 5 years

  3. Corneal curvature

    Time frame: 5 years

  4. Optical Coherence Tomography

    Time frame: 5 years

  5. Visual acuity

    Time frame: 5 years

  6. Contrast sensitivity

    Time frame: 5 years

Sponsors and collaborators

Lead sponsor

MeiraGTx UK II Ltd

Industry

Registry information

Official study title

Phenotyping and Genotyping Patients With Achromatopsia in Preparation for Gene Therapy Trials

Important dates

Study start
2011
Primary completion
2023
Study completion
2023
First posted
Oct 11, 2019
Registry last updated
Jun 27, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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