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Natural History Study for Achromatopsia

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ClinicalTrials.gov Identifier: NCT04124185
Recruitment Status : Recruiting
First Posted : October 11, 2019
Last Update Posted : November 30, 2021
Information provided by (Responsible Party):
MeiraGTx UK II Ltd

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
Achromatopsia Diagnostic Test: Ocular assessments

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 250 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 5 Years
Official Title: Phenotyping and Genotyping Patients With Achromatopsia in Preparation for Gene Therapy Trials
Actual Study Start Date : September 13, 2011
Estimated Primary Completion Date : December 2024
Estimated Study Completion Date : May 2025

Resource links provided by the National Library of Medicine

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

Primary Outcome Measures :
  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 ]

Biospecimen Retention:   Samples With DNA
Blood samples for genetic screening

Information from the National Library of Medicine

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Ages Eligible for Study:   3 Years to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients diagnosed with Achromatopsia

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04124185

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Contact: Michel Michaelides, Dr michel.michaelides@ucl.ac.uk

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United Kingdom
Moorfields Eye Hospital NHS Foundation Trust Recruiting
London, United Kingdom
Contact: Michaelides, Dr       michel.michaelides@ucl.ac.uk   
Sponsors and Collaborators
MeiraGTx UK II Ltd
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Responsible Party: MeiraGTx UK II Ltd
ClinicalTrials.gov Identifier: NCT04124185    
Other Study ID Numbers: MGT008
First Posted: October 11, 2019    Key Record Dates
Last Update Posted: November 30, 2021
Last Verified: November 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by MeiraGTx UK II Ltd:
Additional relevant MeSH terms:
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Color Vision Defects
Vision Disorders
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases
Cone Dystrophy
Eye Diseases, Hereditary
Eye Diseases