Status unknownNCT03872479Updated Dec 5, 2022

Single Ascending Dose Study in Participants With LCA10

A Phase 1/2 interventional study of EDIT-101 in Leber Congenital Amaurosis 10, Inherited Retinal Dystrophies and Eye Diseases, Hereditary, sponsored by Editas Medicine, Inc.. Status unknown at 5 sites in United States. Open to participants aged 3 Years and older. Per ClinicalTrials.gov, last updated 2022-12-05.

Sponsored by Editas Medicine, Inc. · Phase 1/2, Interventional, and Treatment

The sponsor has not verified this record recently (last verified Dec 2022), so the status shown — last known as Active, not recruiting — may be out of date.

Phase: Phase 1/2
Study type: Interventional
Enrollment: 34
Allocation: Non-randomized
Ages: 3 Years and older
Sex: All

Study summary

The purpose of this study is to evaluate the safety, tolerability and efficacy of a single escalating doses of EDIT-101 administered via subretinal injection in participants with LCA10 caused by a homozygous or compound heterozygous mutation involving c.2991+1655A>G in intron 26 of the CEP290 gene ("LCA10-IVS26").

Read the detailed description

This is an open-label, single ascending dose study of EDIT-101 in adult and pediatric (ie, ages 3 to 17) participants with LCA10-IVS26. Up to 34 participants will be enrolled in up to 5 cohorts to evaluate up to 3 dose levels of EDIT-101 in this study. EDIT-101 is a novel gene editing product designed to eliminate the mutation on the CEP290 gene that results in the retinal degeneration that defines LCA10-IVS26.

Conditions studied

Leber Congenital Amaurosis 10
Inherited Retinal Dystrophies
Eye Diseases, Hereditary
Retinal Disease
Retinal Degeneration
Vision Disorders
Eye Disorders Congenital

Browse trials for

Keywords

CEP290
LCA10
Retinal degenerative diseases (RDD)
Leber congenital amaurosis (LCA)
Congenital Retinal Blindness
p.Cys998X
c.2991+1655A>G
CRISPR Treatment
Cas9 Protein
Eye Diseases Signs and Symptoms
Genetic Diseases, Inborn
Congenital Abnormalities
Eye Abnormalities
CRISPR-Cas9
CRISPR Associated Protein 9
Cas9 Enzyme

In context

Eye Diseases, Hereditary

36 studies on the registry are indexed under Eye Diseases, Hereditary; 5 are open to participants now.

This study's planned enrollment of 34 is close to the median of 33 across 22 interventional studies indexed under Eye Diseases, Hereditary.

Browse Eye Diseases, Hereditary studies →

Lead sponsor

Editas Medicine, Inc. is the lead sponsor of 5 studies on the registry; 1 is open to participants now.

Counted across the registry records on this site, refreshed daily.

Who can participate

Ages eligible: 3 Years and older
Sexes eligible: All
Accepts healthy volunteers: No

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

Male or female
At least 3 years of age at screening with CEP290-related retinal degeneration caused by a homozygous or compound heterozygous mutation involving c.2991+1655A>G in IVS26 of the CEP290 gene.
Visual Acuity:
- Sentinel participant will have severe vision loss with a logMAR BCVA of ≥1.6 to 3.9 (20/800 or worse to LP) in the study eye
- Non-sentinel participants must have BCVA between 1.0 - 3.0 logMAR in the study eye

Exclusion criteria

Exclusion Criteria:

Other known disease-causing mutations
Achieves a passing score for the mobility course at the most difficult level
In either eye, active systemic or ocular/intraocular infection or inflammation
In either eye, history of steroid-responsive intraocular pressure with increases > 25 mm Hg following corticosteroid exposure
Any vaccination/immunization in the last 28 days before screening
Inability or unwillingness to take oral prednisone
Prior gene therapy or oligonucleotide treatment

Study design

Phase: Phase 1 / Phase 2
Primary purpose: Treatment
Allocation: Non-randomized
Intervention model: Sequential assignment
Masking: None (open label)
Enrollment: 34 participants (estimated)

Study arms

Experimental
Adults Low Dose
Single dose of EDIT-101 administered by subretinal injection surgery
Drug: EDIT-101
Experimental
Adults Middle Dose
Single dose of EDIT-101 administered by subretinal injection surgery
Drug: EDIT-101
Experimental
Adults High Dose
Single dose of EDIT-101 administered by subretinal injection surgery
Drug: EDIT-101
Experimental
Pediatric Middle Dose
Single dose of EDIT-101 administered by subretinal injection surgery
Drug: EDIT-101
Experimental
Pediatric High Dose
Single dose of EDIT-101 administered by subretinal injection surgery
Drug: EDIT-101

Interventions

DrugEDIT-101
Participants will receive a single dose of EDIT-101 administered via subretinal injection in the study eye. Up to 5 cohorts across 3 doses will be enrolled in this study.

What researchers measure

Primary outcomes

Frequency of Adverse Events related to EDIT-101
Time frame: 1 year
Number of participants experiencing procedural related adverse events
Time frame: 1 year
Incidence of dose limiting toxicities
Time frame: 1 year

Secondary outcomes

Maximum tolerated dose as determined by occurrence of dose limiting toxicities
Time frame: 1 year
Change from baseline in Mobility course score
Testing the subjects visual function by having the subject walk through obstacle courses. Courses will have different levels of difficulty depending on the light levels of the room and the contrast of the objects in the room.
Time frame: 1 year
Change from baseline in LogMAR measurement of BCVA
The test will evaluate visual acuity in ranges from light perception to normal vision.
Time frame: 1 year
Change from baseline in pupillary response
Measuring the change in pupil diameter in response to a light stimulus.
Time frame: 1 year
Change from baseline in dark adapted visual sensitivity using Full field light sensitivity threshold (FST)
Flashes of light of varying luminance are presented to the eye and the subject reports is the flash was seen.
Time frame: 1 year
Change from baseline in macula thickness
Time frame: 1 year
Change from baseline in contrast sensitivity
The Lea symbols chart will be used for subjects under age 6 and the Pelli-Robson chart for all other subjects. The images or letters on the charts are in decreasing contrast.
Time frame: 1 year
Change from baseline in macular sensitivity as measured by microperimetry
Visual field test measuring the amount of light perceived in specific parts of the macula.
Time frame: 1 year
Change from baseline in color vision score using the Farnsworth 15 score
The Farnsworth D15 tests for congenital and acquired color vision defects. Fifteen color discs will be arranged by the subject. Scoring is accomplished by recording the sequence selected by the patient on a copy of the score sheet. A patient with a color vision deficiency will arrange the color discs in a different order than a person with normal color vision.
Time frame: 1 year
Change from baseline in QOL score for Age <8 years using the Children's Visual Function Questionnaire
Time frame: 1 year
Change from baseline in QOL score for Age 8 to <18 years using the Impact of Vision Impairment for Children
Time frame: 1 year
Change from baseline in QOL score for Age >18 years if BCVA is worse than 1.0 logMAR in both eyes using the Impact of Vision Impairment for Very Low Vision
Time frame: 1 year
Change from baseline in QOL score for Age >18 years if BCVA is 1.0 logMAR or better in both eyes using the Impact of Vision Impairment
Time frame: 1 year
Change from baseline in visual field using kinetic perimetry
Kinetic perimetry looks as the visual field to identify regions of normal and abnormal sensitivity to light
Time frame: 1 year
Change from baseline in Patient Global Impressions of Change score
This QOL has 5 non-numeric choices for the subject to select how they believe their condition has changed.
Time frame: 1 year
Change from baseline in gaze tracking
Video clips of the eyes are used to measure eye position and stability over time.
Time frame: 1 year

Study locations

5 sites

Bascom Palmer Eye Institute
Miami, Florida 33136, United States
Massachusetts Eye and Ear Infirmary
Boston, Massachusetts 02114, United States
W.K. Kellogg Eye Center - University of Michigan
Ann Arbor, Michigan 48105, United States
Casey Eye Institute - OSHU
Portland, Oregon 97239, United States
University of Pennsylvania
Philadelphia, Pennsylvania 19104, United States

References and documents

Publications

Pierce EA, Aleman TS, Jayasundera KT, Ashimatey BS, Kim K, Rashid A, Jaskolka MC, Myers RL, Lam BL, Bailey ST, Comander JI, Lauer AK, Maguire AM, Pennesi ME. Gene Editing for CEP290-Associated Retinal Degeneration. N Engl J Med. 2024 Jun 6;390(21):1972-1984. doi: 10.1056/NEJMoa2309915. Epub 2024 May 6. PubMed 38709228 ↗
Harvey JP, Sladen PE, Yu-Wai-Man P, Cheetham ME. Induced Pluripotent Stem Cells for Inherited Optic Neuropathies-Disease Modeling and Therapeutic Development. J Neuroophthalmol. 2022 Mar 1;42(1):35-44. doi: 10.1097/WNO.0000000000001375. Epub 2021 Sep 30. PubMed 34629400 ↗
Zhang X, Zhang D, Thompson JA, Chen SC, Huang Z, Jennings L, McLaren TL, Lamey TM, De Roach JN, Chen FK, McLenachan S. Gene correction of the CLN3 c.175G>A variant in patient-derived induced pluripotent stem cells prevents pathological changes in retinal organoids. Mol Genet Genomic Med. 2021 Mar;9(3):e1601. doi: 10.1002/mgg3.1601. Epub 2021 Jan 26. PubMed 33497524 ↗

Individual participant data

Plan to share: No

Timeline

Tracking since Sep 25, 2026

ElapsedEstimatedEstimated, not yet reached

Started Sep 2019 (actual). Primary completion is estimated for May 2025, 67 months after the start.

How these figures are worked out, and which studies are left out of them.

Registered: Oct 12, 2018
First posted: Mar 13, 2019
StartActual: Sep 26, 2019
Primary completionEst.: May 23, 2025
CompletionEst.: May 23, 2025
Last update: Dec 5, 2022

What these dates mean

Start.: When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.: When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.: When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.: Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.

No changes since tracking began. The registry record was last updated on Dec 5, 2022, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗

Registry details

Key details

Study ID: NCT03872479
Lead sponsor: Editas Medicine, Inc.
Responsible party: Sponsor
First posted: Mar 13, 2019
Start date: Sep 26, 2019
Primary completion: May 23, 2025 (estimated)
Completion: May 23, 2025 (estimated)
Last update: Dec 5, 2022

Oversight

Data monitoring committee: Yes
FDA-regulated drug: Yes
FDA-regulated device: No

View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is status unknown, as verified in Dec 2022. You cannot join it, but the record below documents what was studied.

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