Natural History Study for Achromatopsia

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

85 participants

Study Classification

OBSERVATIONAL

Study Start Date

2011-09-13

Study Completion Date

2023-05-18

Brief Summary

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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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Detailed Description

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Conditions

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Achromatopsia

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Patients with Achromatopsia

Ocular assessments

Intervention Type DIAGNOSTIC_TEST

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

Interventions

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Ocular assessments

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

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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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.

Minimum Eligible Age

3 Years

Maximum Eligible Age

100 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No