BlindnessNCT03396042
Natural History Study of CEP290-Related Retinal Degeneration
An observational study of Blindness and Leber Congenital Amaurosis 10, run by Editas Medicine, Inc. at 7 sites in 4 countries.
Trial summary
A prospective natural history study with systematic assessments and uniform follow-up to provide a high-quality dataset for assisting in the design of future clinical treatment trials involving patients with CEP290-related retinal degeneration caused by the common intron 26 mutation. Read more about this study
- Who is it for?
- Ages 3 to 99 years
- Conditions the study is for
- Blindness, Leber Congenital Amaurosis 10, Vision Disorders
- How many people
- 26 participants
- Where
- 7 sitesin 4 countries
- Study dates
- 17 Dec 2017to 6 May 2022
- 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 99 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The indication for this study is CEP290-related retinal degeneration caused by a compound heterozygous or homozygous intron 26 c.2991+1655A>G mutation.
Who may be able to join
- Patient and/or parent/legal guardian must complete/sign an informed consent form (ICF). If required on a per patient basis, provisions can be made for alternative forms of consent (eg, witnessed consent). Where required by the IRB/IEC, minors must also verbalize or sign a confirmation of assent.
- At least 3 years of age at screening.
- Has abnormally decreased vision, defined as having light perception to 20/50 visual acuity in each eye, with examination and test results consistent with an inherited retinal degeneration due to mutations in the CEP290 gene.
- Has CEP290-related retinal degeneration caused by a compound heterozygous or homozygous intron 26 c.2991+1655A>G mutation (ie, 1 or 2 copies of the intron 26 c.2991+1655A>G mutation) confirmed by deoxyribonucleic acid sequencing.
- Has ability to cooperate with assessments relative to age.
- Has clear ocular media and adequate pupil dilation in at least 1 eye, to permit good quality fundus examination and optical coherence tomography (OCT) imaging.
Who cannot join
- Has history or current evidence of a medical condition (systemic or ophthalmic disease, metabolic dysfunction, physical examination finding, or clinical laboratory finding) that may, in the opinion of the Investigator, preclude adherence to the scheduled study visits, safe participation in the study, or affect the results of the study (eg, uncontrolled systemic hypertension, autoimmune disease, advanced coronary artery disease, or cerebral vascular disease, other unstable or progressive cardiovascular, pulmonary, Parkinson's, liver or renal disease, cancer, or dementia).
- Has history or current evidence of ocular disease in either eye that, in the opinion of the Investigator, may confound assessment of this inherited retinal disease or the assessments utilized herein (eg, glaucoma, age-related macular degeneration, diabetic retinopathy, uveitis, or the presence of any condition that precludes adequate visualization of the fundus such as dense cataracts or corneal scarring).
- Achieves a passing score for the Visual Function Navigation Test at the maximum level of difficulty (ie, passes the most challenging Visual Function Navigation Test under the dimmest lighting conditions) with each eye independently and both eyes together.
- Is currently receiving gene therapy and/or has received gene therapy.
- Is currently enrolled in an investigational or interventional drug or device study and/or has participated in such a study within 30 days of Screening.
Trial locations and contacts
7 sites in 4 countries.
7 sites in 4 countries
United States4 sites
W.K. Kellogg Eye Center
Ann Arbor, Michigan, 48105
Massachusetts Eye and Ear Infirmary
Boston, Massachusetts, 02114
Bascom Palmer Eye Institute
Miami, Florida, 33136
Casey Eye Institute - OHSU
Portland, Oregon, 97239
Netherlands1 site
Radboud Universitair Medisch Centrum
Nijmegen, Gelderland, 6525
About this study
A prospective natural history study with systematic assessments and uniform follow-up to provide a high-quality dataset for assisting in the design of future clinical treatment trials involving patients with CEP290-related retinal degeneration caused by the common intron 26 mutation.
Read the detailed description
The purpose of the study is to describe the natural history of CEP290-related retinal degeneration caused by a compound heterozygous or homozygous intron 26 c.2991+1655A>G mutation and to better understand the best assessments for evaluation of patients with this condition in a future interventional trial. Patients meeting the entry criteria will be enrolled in the study. Visits will occur at Screening, Baseline, and Months 3, 6, and 12, for a total duration of 1 year.
- Conditions
- Blindness, Leber Congenital Amaurosis 10, Vision Disorders, Eye Diseases, Eye Diseases, Hereditary, Eye Disorders Congenital
- Keywords
- CEP290, LCA10, Retinal degenerative diseases (RDD), Leber congenital amaurosis (LCA), Congenital Retinal Blindness, p.Cys998X, c.2991+1655A>G, Eye Diseases Signs and Symptoms, Genetic Diseases, Inborn, Congenital Abnormalities, Eye Abnormalities
- Medical subject headings
- Blindness, Leber Congenital Amaurosis 10, Vision Disorders, Eye Diseases, Eye Diseases, Hereditary, Eye Abnormalities, Retinal Diseases, Retinal Degeneration
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Group 1 | 5 Patient target, ages 3 to 5 yr, with visual acuity Light Perception (LP) to <=20/200 | |
| Group 2 | 5 Patient target, ages 3 to 5 yr, with visual acuity >20/200 to <=20/50 | |
| Group 3 | 5 Patient target, ages 6 to 11 yr, with visual acuity LP to <=20/200 | |
| Group 4 | 5 Patient target, ages 6 to 11 yr, with visual acuity >20/200 to <=20/50 | |
| Group 5 | 5 Patient target, ages 12 to 17 yr, with visual acuity LP to <=20/200 | |
| Group 6 | 5 Patient target, ages 12 to 17 yr, with visual acuity >20/200 to <=20/50 | |
| Group 7 | 5 Patient target, ages 18yr and older, with visual acuity LP to <=20/200 | |
| Group 8 | 5 Patient target, ages 18yr and older, with visual acuity >20/200 to <=20/50 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Characterize CEP290-related retinal degeneration
To prospectively characterize CEP290-related retinal degeneration and the clinical phenotype of patients with either compound heterozygous or homozygous intron 26 c.2991+1655A>G mutations
Measured: Through 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Jan 2018
- Study start17 Dec 2017
- Primary completion6 May 2022
- Study completion6 May 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for BlindnessStudies 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
- 26 participants (actual)
Sponsor and investigators
- Lead sponsor
- Editas Medicine, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03396042
- Sponsor's protocol ID
- EDIT-NHS01
- Status last verified
- May 2022
- First submitted
- 4 Dec 2017
- Last updated
- 19 May 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 May 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History Study of CEP290-Related Retinal Degeneration
- ClinicalTrials.gov ID
- NCT03396042
- Acronym / sponsor ID
- EDIT-NHS01
- Conditions
- Blindness, Leber Congenital Amaurosis 10, Vision Disorders, Eye Diseases, Eye Diseases, Hereditary, Eye Disorders Congenital
- Keywords
- CEP290, LCA10, Retinal degenerative diseases (RDD), Leber congenital amaurosis (LCA), Congenital Retinal Blindness, p.Cys998X, c.2991+1655A>G, Eye Diseases Signs and Symptoms
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 26 participants (actual)
- Lead sponsor
- Editas Medicine, Inc.Industry (pharma, biotech, devices)
- Study start
- 17 Dec 2017 (actual)
- Primary completion
- 6 May 2022 (actual)
- Study completion
- 6 May 2022 (actual)
- First posted
- 10 Jan 2018 (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.
A prospective natural history study with systematic assessments and uniform follow-up to provide a high-quality dataset for assisting in the design of future clinical treatment trials involving patients with CEP290-related retinal degeneration caused by the common intron 26 mutation.
Detailed description
The purpose of the study is to describe the natural history of CEP290-related retinal degeneration caused by a compound heterozygous or homozygous intron 26 c.2991+1655A>G mutation and to better understand the best assessments for evaluation of patients with this condition in a future interventional trial. Patients meeting the entry criteria will be enrolled in the study. Visits will occur at Screening, Baseline, and Months 3, 6, and 12, for a total duration of 1 year.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 8
| Arm | Type | Receives |
|---|---|---|
| Group 1 | – | –5 Patient target, ages 3 to 5 yr, with visual acuity Light Perception (LP) to <=20/200 |
| Group 2 | – | –5 Patient target, ages 3 to 5 yr, with visual acuity >20/200 to <=20/50 |
| Group 3 | – | –5 Patient target, ages 6 to 11 yr, with visual acuity LP to <=20/200 |
| Group 4 | – | –5 Patient target, ages 6 to 11 yr, with visual acuity >20/200 to <=20/50 |
| Group 5 | – | –5 Patient target, ages 12 to 17 yr, with visual acuity LP to <=20/200 |
| Group 6 | – | –5 Patient target, ages 12 to 17 yr, with visual acuity >20/200 to <=20/50 |
| Group 7 | – | –5 Patient target, ages 18yr and older, with visual acuity LP to <=20/200 |
| Group 8 | – | –5 Patient target, ages 18yr and older, with visual acuity >20/200 to <=20/50 |
Who may qualify
- Ages
- 3 to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The indication for this study is CEP290-related retinal degeneration caused by a compound heterozygous or homozygous intron 26 c.2991+1655A>G mutation.
Key inclusion criteria (6 listed)
- Patient and/or parent/legal guardian must complete/sign an informed consent form (ICF). If required on a per patient basis, provisions can be made for alternative forms of consent (eg, witnessed consent). Where required by the IRB/IEC, minors must also verbalize or sign a confirmation of assent.
- At least 3 years of age at screening.
- Has abnormally decreased vision, defined as having light perception to 20/50 visual acuity in each eye, with examination and test results consistent with an inherited retinal degeneration due to mutations in the CEP290 gene.
- Has CEP290-related retinal degeneration caused by a compound heterozygous or homozygous intron 26 c.2991+1655A>G mutation (ie, 1 or 2 copies of the intron 26 c.2991+1655A>G mutation) confirmed by deoxyribonucleic acid sequencing.
- Has ability to cooperate with assessments relative to age.
Key exclusion criteria (5 listed)
- Has history or current evidence of a medical condition (systemic or ophthalmic disease, metabolic dysfunction, physical examination finding, or clinical laboratory finding) that may, in the opinion of the Investigator, preclude adherence to the scheduled study visits, safe participation in the study, or affect the results of the study (eg, uncontrolled systemic hypertension, autoimmune disease, advanced coronary artery disease, or cerebral vascular disease, other unstable or progressive cardiovascular, pulmonary, Parkinson's, liver or renal disease, cancer, or dementia).
- Has history or current evidence of ocular disease in either eye that, in the opinion of the Investigator, may confound assessment of this inherited retinal disease or the assessments utilized herein (eg, glaucoma, age-related macular degeneration, diabetic retinopathy, uveitis, or the presence of any condition that precludes adequate visualization of the fundus such as dense cataracts or corneal scarring).
- Achieves a passing score for the Visual Function Navigation Test at the maximum level of difficulty (ie, passes the most challenging Visual Function Navigation Test under the dimmest lighting conditions) with each eye independently and both eyes together.
- Is currently receiving gene therapy and/or has received gene therapy.
- Is currently enrolled in an investigational or interventional drug or device study and/or has participated in such a study within 30 days of Screening.
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
Characterize CEP290-related retinal degeneration
Time frame: Through 12 months
To prospectively characterize CEP290-related retinal degeneration and the clinical phenotype of patients with either compound heterozygous or homozygous intron 26 c.2991+1655A>G mutations
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 19 May 2022.
- Individual participant dataSharing planned: No
Related trials for Blindness
Active, not recruiting
Improving Visual Field Deficits With Noninvasive Brain Stimulation
Visual Field Defect, Peripheral, Stroke
Not yet recruiting
Multisensory Rehabilitation of Vision Loss After Cortical Damage
Cortical Blindness
Recruiting
Ameliorating Stroke-induced Hemianopia Via Multisensory Training
Hemianopia, Homonymous, Cortical Blindness, Unspecified Side of Brain
Not yet recruiting
Remapping Text in Sentence and Word Tasks to Aid Reading With Central Vision Loss
Macular Degeneration, Central Visual Impairment
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
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.
7 sites in 4 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Blindness and Leber Congenital Amaurosis 10, run by Editas Medicine, Inc. at 7 sites in 4 countries.
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 6 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 19 May 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites in United States, France, Germany, Netherlands. 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?
Characterize CEP290-related retinal degeneration (time frame: Through 12 months). 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 19 May 2022.