Natural History Study for Achromatopsia

Achromatopsia Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04124185
• Other study ID #: MGT008
• Status: Completed
• Start date: September 13, 2011
• Est. completion date: May 18, 2023

Study information

• Verified date: June 2023
• Source: MeiraGTx UK II Ltd
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 85
• Est. completion date: May 18, 2023
• Est. primary completion date: May 18, 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: 3 Years to 100 Years

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.

Related Conditions & MeSH terms

• Achromatopsia
• Color Vision Defects

Intervention

Diagnostic Test:
• Ocular assessments
Complete ocular examination, Axial length and corneal curvature, Optical Coherence Tomography, Visual acuity, Contrast sensitivity

Locations

Country	Name	City	State
United Kingdom	Moorfields Eye Hospital NHS Foundation Trust	London

Sponsors (1)

Lead Sponsor	Collaborator
MeiraGTx UK II Ltd

Country where clinical trial is conducted

United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Complete ocular examination		5 years
Primary	Axial length		5 years
Primary	Corneal curvature		5 years
Primary	Optical Coherence Tomography		5 years
Primary	Visual acuity		5 years
Primary	Contrast sensitivity		5 years