NCT04124185

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
85

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Sep 2011

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

September 13, 2011

Completed
8 years until next milestone

First Submitted

Initial submission to the registry

September 10, 2019

Completed
1 month until next milestone

First Posted

Study publicly available on registry

October 11, 2019

Completed
3.6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

May 18, 2023

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

May 18, 2023

Completed
Last Updated

June 27, 2023

Status Verified

June 1, 2023

Enrollment Period

11.7 years

First QC Date

September 10, 2019

Last Update Submit

June 26, 2023

Conditions

Achromatopsia

Keywords

AchromatopsiaCNGB3CNGA3

Outcome Measures

Primary Outcomes (6)

  • 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

Study Arms (1)

Patients with Achromatopsia

Diagnostic Test: Ocular assessments

Interventions

Ocular assessmentsDIAGNOSTIC_TEST

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

Patients with Achromatopsia

Eligibility Criteria

Age3 Years - 100 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients diagnosed with Achromatopsia

You may qualify if:

  • 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.

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Moorfields Eye Hospital NHS Foundation Trust

London, United Kingdom

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples for genetic screening

MeSH Terms

Conditions

Color Vision Defects

Condition Hierarchy (Ancestors)

Vision DisordersSensation DisordersNeurologic ManifestationsNervous System DiseasesCone DystrophyEye Diseases, HereditaryEye DiseasesSigns and SymptomsPathological Conditions, Signs and Symptoms

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Target Duration
5 Years
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

September 10, 2019

First Posted

October 11, 2019

Study Start

September 13, 2011

Primary Completion

May 18, 2023

Study Completion

May 18, 2023

Last Updated

June 27, 2023

Record last verified: 2023-06

Locations

GB(1)