AchromatopsiaNCT01846052
Clinical and Genetic Characterization of Individuals With Achromatopsia
An observational study of Achromatopsia, run by Beacon Therapeutics at 5 sites in United States.
Trial summary
The purpose of this study is to identify individuals with achromatopsia caused by mutations in the CNGB3 gene and characterize their clinical condition using several tests of visual function every 6 months for up to 1.5 years. Read more about this study
- Who is it for?
- Ages 6 years and older
- Conditions the study is for
- Achromatopsia
- How many people
- 56 participants
- Where
- 5 sitesUnited States
- Study dates
- Jun 2013to Apr 2017
- 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 6 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with a clinical diagnosis of achromatopsia
Who may be able to join
- Clinical diagnosis of achromatopsia (screening portion of study);
- Molecular confirmation of mutations in the CNGB3 gene (main portion of study);
- At least 6 years of age;
- Willing and able to perform study procedures;
- Signed informed consent(s) obtained (and child assent where applicable).
Who cannot join
- Not able to have a blood sample drawn;
- Pre-existing eye conditions that would interfere with interpretation of study endpoints (e.g. glaucoma, corneal or lenticular opacities, diabetic retinopathy, history of retinal detachment);
- Participating in an interventional research study of drugs or devices for treatment of achromatopsia or other retinal diseases;
- Use of medications that may impair color vision (e.g. hydroxychloroquine);
- Any condition which leads the investigator to believe that the participant cannot comply with the protocol requirements or that may place the participant at an unacceptable risk for participation.
Trial locations and contacts
5 sites in 1 country.
5 sites in 1 country
United States5 sites
Pangere Center for Inherited Retinal Diseases, The Chicago Lighthouse for People Who Are Blind or Visually Imp
Chicago, Illinois, 60608
VitreoRetinal Associates
Gainesville, Florida, 32607
Bascom Palmer Eye Institute
Miami, Florida, 33136
Medical College of Wisconsin
Milwaukee, Wisconsin, 53226
Casey Eye Institute, Oregon Health & Science University
Portland, Oregon, 97239
About this study
The purpose of this study is to identify individuals with achromatopsia caused by mutations in the CNGB3 gene and characterize their clinical condition using several tests of visual function every 6 months for up to 1.5 years.
Read the detailed description
Individuals with a clinical diagnosis of achromatopsia will be asked to provide informed consent and will then have a single 5 mL blood sample drawn for DNA sequence analysis of genes known to cause achromatopsia, including the CNGB3 gene. All participants will be informed of the results of testing for these mutations. Those with mutations in both alleles of the CNGB3 gene will be evaluated every 6 months for up to 1.5 years by using a variety of non-invasive visual function tests to more fully characterize their clinical condition. This testing will include routine ophthalmic examination and tests of visual acuity, color vision, reading speed, perimetry, nystagmus, light sensitivity, optical coherence tomography, adaptive optics retinal imaging, electroretinography, fundus photography and completion of a quality of life questionnaire.
- Conditions
- Achromatopsia
- Keywords
- achromatopsia, CNGB3
- Medical subject headings
- Color Vision Defects, Achromatopsia 3
What is being measured
The primary outcome is the main question the study is designed to answer.
Visual acuity
Visual acuity will be measured by EVA or ETDRS methods
Measured: Annually for up to 1.5 years
Secondary outcomes (2)
Color Vision
Color vision will be measured by Farnsworth D-15 test and anomaloscope
Measured: annually for up to 1.5 years
Adaptive Optics Retinal Imaging
Adaptive optics retinal imaging will be performed using the method of Genead et al. (Invest Ophthalmol Vis Sci 2011;52:7298-308).
Measured: annually for up to 1.5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 May 2013 (estimated)
- Study startJun 2013
- Primary completionApr 2017
- Study completionApr 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- 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
- 56 participants (actual)
Sponsor and investigators
- Lead sponsor
- Beacon Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- National Eye Institute (NEI)
- Responsible party
- Sponsor
- Investigators
- Matt Feinsod, MD, Study director, Applied Genetics Technologies Corporation
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01846052
- Sponsor's protocol ID
- ACHM-001
- Other IDs
- 1R24EY022023
- Status last verified
- Oct 2017
- First submitted
- 1 May 2013
- Last updated
- 13 Oct 2017
- Results posted
- No
- Data monitoring committee
- No
Publications
Langlo CS, Patterson EJ, Higgins BP, Summerfelt P, Razeen MM, Erker LR, Parker M, Collison FT, Fishman GA, Kay CN, Zhang J, Weleber RG, Yang P, Wilson DJ, Pennesi ME, Lam BL, Chiang J, Chulay JD, Dubra A, Hauswirth WW, Carroll J; ACHM-001 Study Group. Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia. Invest Ophthalmol Vis Sci. 2016 Aug 1;57(10):3984-95. doi: 10.1167/iovs.16-19313.
PubMed 27479814
Study at a glance
From the registry record, last updated by the sponsor on 13 Oct 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Genetic Characterization of Individuals With Achromatopsia
- ClinicalTrials.gov ID
- NCT01846052
- Acronym / sponsor ID
- ACHM-001
- Conditions
- Achromatopsia
- Keywords
- achromatopsia, CNGB3
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 56 participants (actual)
- Lead sponsor
- Beacon TherapeuticsIndustry (pharma, biotech, devices)
- Collaborators
- National Eye Institute (NEI)
- Study start
- Jun 2013
- Primary completion
- Apr 2017 (actual)
- Study completion
- Apr 2017 (actual)
- First posted
- 3 May 2013 (estimated)
- 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.
The purpose of this study is to identify individuals with achromatopsia caused by mutations in the CNGB3 gene and characterize their clinical condition using several tests of visual function every 6 months for up to 1.5 years.
Detailed description
Individuals with a clinical diagnosis of achromatopsia will be asked to provide informed consent and will then have a single 5 mL blood sample drawn for DNA sequence analysis of genes known to cause achromatopsia, including the CNGB3 gene. All participants will be informed of the results of testing for these mutations. Those with mutations in both alleles of the CNGB3 gene will be evaluated every 6 months for up to 1.5 years by using a variety of non-invasive visual function tests to more fully characterize their clinical condition. This testing will include routine ophthalmic examination and tests of visual acuity, color vision, reading speed, perimetry, nystagmus, light sensitivity, optical coherence tomography, adaptive optics retinal imaging, electroretinography, fundus photography and completion of a quality of life questionnaire.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 6 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with a clinical diagnosis of achromatopsia
Key inclusion criteria (5 listed)
- Clinical diagnosis of achromatopsia (screening portion of study);
- Molecular confirmation of mutations in the CNGB3 gene (main portion of study);
- At least 6 years of age;
- Willing and able to perform study procedures;
- Signed informed consent(s) obtained (and child assent where applicable).
Key exclusion criteria (5 listed)
- Not able to have a blood sample drawn;
- Pre-existing eye conditions that would interfere with interpretation of study endpoints (e.g. glaucoma, corneal or lenticular opacities, diabetic retinopathy, history of retinal detachment);
- Participating in an interventional research study of drugs or devices for treatment of achromatopsia or other retinal diseases;
- Use of medications that may impair color vision (e.g. hydroxychloroquine);
- Any condition which leads the investigator to believe that the participant cannot comply with the protocol requirements or that may place the participant at an unacceptable risk for participation.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Visual acuity
Time frame: Annually for up to 1.5 years
Visual acuity will be measured by EVA or ETDRS methods
2 secondary outcomes
Color Vision
Time frame: annually for up to 1.5 years
Adaptive Optics Retinal Imaging
Time frame: annually for up to 1.5 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 13 Oct 2017.
- Derived from this study: PubMed 27479814Langlo CS, Patterson EJ, Higgins BP, Summerfelt P, Razeen MM, Erker LR, Parker M, Collison FT, Fishman GA, Kay CN, Zhang J, Weleber RG, Yang P, Wilson DJ, Pennesi ME, Lam BL, Chiang J, Chulay JD, Dubra A, Hauswirth WW, Carroll J; ACHM-001 Study Group. Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia. Invest Ophthalmol Vis Sci. 2016 Aug 1;57(10):3984-95. doi: 10.1167/iovs.16-19313.
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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.
Matt Feinsod, MD study director
Applied Genetics Technologies Corporation
5 sites 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 Beacon Therapeutics at 5 sites in United States.
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 5 inclusion and 5 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 13 Oct 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in United States. 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?
Visual acuity (time frame: Annually for up to 1.5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01846052, which also lists 1 linked publication.
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 13 Oct 2017.