Natural History Study for Achromatopsia

June 26, 2023 updated by: MeiraGTx UK II Ltd

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

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 Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Actual)

85

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United Kingdom
      • London, United Kingdom
        • Moorfields Eye Hospital NHS Foundation Trust

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

5 months to 96 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Patients diagnosed with Achromatopsia

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Patients with Achromatopsia
Diagnostic test: Ocular assessments
Complete ocular examination, Axial length and corneal curvature, Optical Coherence Tomography, Visual acuity, Contrast sensitivity

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Complete ocular examination
Time Frame: 5 years
5 years
Axial length
Time Frame: 5 years
5 years
Corneal curvature
Time Frame: 5 years
5 years
Optical Coherence Tomography
Time Frame: 5 years
5 years
Visual acuity
Time Frame: 5 years
5 years
Contrast sensitivity
Time Frame: 5 years
5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

MeiraGTx UK II Ltd

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 13, 2011

Primary Completion (Actual)

May 18, 2023

Study Completion (Actual)

May 18, 2023

Study Registration Dates

First Submitted

September 10, 2019

First Submitted That Met QC Criteria

October 10, 2019

First Posted (Actual)

October 11, 2019

Study Record Updates

Last Update Posted (Actual)

June 27, 2023

Last Update Submitted That Met QC Criteria

June 26, 2023

Last Verified

June 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • MGT008

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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