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CompletedNCT04124185Updated Jun 27, 2023

Natural History Study for Achromatopsia

An observational study in Achromatopsia, sponsored by MeiraGTx UK II Ltd. Completed at 1 site in United Kingdom. Open to participants aged 3 Years to 100 Years. Per ClinicalTrials.gov, last updated 2023-06-27.

Sponsored by MeiraGTx UK II Ltd · Observational

Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
85
Ages
3 Years to 100 Years
Sex
All
01

Study 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.

02

Conditions studied

  • Achromatopsia

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Keywords

  • Achromatopsia
  • CNGB3
  • CNGA3
03

In context

Color Vision Defects

62 studies on the registry are indexed under Color Vision Defects; 11 are open to participants now.

This study's enrollment of 85 is below the median of 103 across 15 observational studies indexed under Color Vision Defects.

Browse Color Vision Defects studies →

Lead sponsor

MeiraGTx UK II Ltd is the lead sponsor of 10 studies on the registry; none are open to participants now.

Of its 5 completed or terminated interventional studies of FDA-regulated products, 4 (80%) have results posted.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
3 Years to 100 Years
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

Patients diagnosed with Achromatopsia

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

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

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.
05

Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
85 participants (actual)
Target follow-up
5 Years
Patient registry
Yes
Biospecimen retention
Samples with dna

Groups and cohorts

  • Patients with Achromatopsia

    Diagnostic Test: Ocular assessments

Interventions

  • Diagnostic testOcular assessments

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

06

What researchers measure

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

07

Study locations

1 site
  • Moorfields Eye Hospital NHS Foundation Trust
    London, United Kingdom
08

References and documents

Individual participant data

Plan to share: Undecided

No publications or documents are linked to this record.

09

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Jun 27, 2023, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT04124185
Lead sponsor
MeiraGTx UK II Ltd
Responsible party
Sponsor
First posted
Oct 11, 2019
Start date
Sep 13, 2011
Primary completion
May 18, 2023
Completion
May 18, 2023
Last update
Jun 27, 2023

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Jun 2023. You cannot join it, but the record below documents what was studied.

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Discussion

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