Natural History Study for Achromatopsia

Sponsor

MeiraGTx UK II Ltd (Industry)

Overall Status

Recruiting

CT.gov ID

NCT04124185

Collaborator

(none)

250

Enrollment

Location

163.6

Anticipated Duration (Months)

1.5

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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.

Condition or Disease	Intervention/Treatment	Phase
Achromatopsia	Diagnostic Test: Ocular assessments

Study Design

Study Type:

Observational [Patient Registry]

Anticipated Enrollment :

250 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

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

Actual Study Start Date :

Sep 13, 2011

Anticipated Primary Completion Date :

Dec 1, 2024

Anticipated Study Completion Date :

May 1, 2025

Arms and Interventions

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

Arm

Intervention/Treatment

Patients with Achromatopsia

Diagnostic Test: Ocular assessments

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

Outcome Measures

Primary Outcome Measures

Complete ocular examination [5 years]
Axial length [5 years]
Corneal curvature [5 years]
Optical Coherence Tomography [5 years]
Visual acuity [5 years]
Contrast sensitivity [5 years]

Eligibility Criteria

Criteria

Ages Eligible for Study:

3 Years to 100 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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.

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Moorfields Eye Hospital NHS Foundation Trust	London		United Kingdom

Sponsors and Collaborators

MeiraGTx UK II Ltd

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

MeiraGTx UK II Ltd

ClinicalTrials.gov Identifier:

NCT04124185

Other Study ID Numbers:

MGT008

First Posted:

Oct 11, 2019

Last Update Posted:

Nov 30, 2021

Last Verified:

Nov 1, 2021

Individual Participant Data (IPD) Sharing Statement:

Undecided

Plan to Share IPD:

Undecided

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Keywords provided by MeiraGTx UK II Ltd

Achromatopsia

CNGB3

CNGA3

Additional relevant MeSH terms:

Color Vision Defects

Study Results

No Results Posted as of Nov 30, 2021