AchromatopsiaNCT04124185
Natural History Study for Achromatopsia
An observational study of Achromatopsia, run by MeiraGTx UK II Ltd at 1 site in United Kingdom.
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… Read more about this study
- Who is it for?
- Ages 3 to 100 years
- Conditions the study is for
- Achromatopsia
- What is being tested?
- Ocular assessments
- How many people
- 85 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 13 Sep 2011to 18 May 2023
- How long will I take part?
- 5 Years
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients diagnosed with Achromatopsia
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
United Kingdom1 site
Moorfields Eye Hospital NHS Foundation Trust
London
About this study
Official title: Phenotyping and Genotyping Patients With Achromatopsia in Preparation for Gene Therapy Trials
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.
- Conditions
- Achromatopsia
- Being tested
- Ocular assessments
- Keywords
- Achromatopsia, CNGB3, CNGA3
- Medical subject headings
- Color Vision Defects
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Ocular assessmentsDiagnostic test
Complete ocular examination, Axial length and corneal curvature, Optical Coherence Tomography, Visual acuity, Contrast sensitivity
| Study group | Role | What they receive |
|---|---|---|
| Patients with Achromatopsia | Not described Receives: Diagnostic Test: Ocular assessments |
What is being measured
The primary outcome is the main question the study is designed to answer.
Complete ocular examination
Measured: 5 years
Axial length
Measured: 5 years
Corneal curvature
Measured: 5 years
Optical Coherence Tomography
Measured: 5 years
Visual acuity
Measured: 5 years
Contrast sensitivity
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Oct 2019
- Study start13 Sep 2011
- Primary completion18 May 2023
- Study completion18 May 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for AchromatopsiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 85 participants (actual)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- MeiraGTx UK II Ltd
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04124185
- Sponsor's protocol ID
- MGT008
- Status last verified
- Jun 2023
- First submitted
- 10 Sep 2019
- Last updated
- 27 Jun 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 27 Jun 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phenotyping and Genotyping Patients With Achromatopsia in Preparation for Gene Therapy Trials
- ClinicalTrials.gov ID
- NCT04124185
- Acronym / sponsor ID
- MGT008
- Conditions
- Achromatopsia
- Keywords
- Achromatopsia, CNGB3, CNGA3
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 85 participants (actual)
- Lead sponsor
- MeiraGTx UK II LtdIndustry (pharma, biotech, devices)
- Study start
- 13 Sep 2011 (actual)
- Primary completion
- 18 May 2023 (actual)
- Study completion
- 18 May 2023 (actual)
- First posted
- 11 Oct 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 5 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with Achromatopsia | – | Diagnostic Test: Ocular assessments |
Who may qualify
- Ages
- 3 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients diagnosed with Achromatopsia
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (2 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Ocular assessmentsComplete ocular examination, Axial length and corneal curvature, Optical Coherence Tomography, Visual acuity, Contrast sensitivity | Diagnostic test | Patients with Achromatopsia |
Primary outcome
Complete ocular examination
Time frame: 5 years
Axial length
Time frame: 5 years
Corneal curvature
Time frame: 5 years
Optical Coherence Tomography
Time frame: 5 years
Visual acuity
Time frame: 5 years
Contrast sensitivity
Time frame: 5 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Jun 2023.
- Individual participant dataSharing planned: Undecided
Related trials for Achromatopsia
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Inherited Retinal Degenerative Disease Registry
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RecruitingObservational study
Natural History Study of Inherited Retinal Diseases
Retinal Dystrophies, Color Vision Defects
Active, not recruitingPhase 1/2
Safety and Efficacy of rAAV.hCNGA3 Gene Therapy in Patients With CNGA3-linked Achromatopsia
Achromatopsia
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Achromatopsia, run by MeiraGTx UK II Ltd at 1 site in United Kingdom.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 27 Jun 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Complete ocular examination (time frame: 5 years). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Jun 2023.