Leber Congenital AmaurosisPhase 1/2NCT03920007
Study of Subretinally Injected ATSN-101 Administered in Patients With Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2D
A Phase 1/2 study testing ATSN-101, ATSN-101 Diluent Solution and Prednisone in people with Leber Congenital Amaurosis and LCA, run by Atsena Therapeutics Inc. at 2 sites in United States.
Trial summary
Primary Objective: To evaluate the safety and tolerability of ascending doses of ATSN-101 administered as a unilateral subretinal injection in patients with Leber Congenital Amaurosis (LCA) caused by autosomal recessive guanylate cyclase 2D (GUCY2D) mutations (GUCY2D-LCA). Read more about this study
- Who is it for?
- Ages 6 years and older
- Conditions the study is for
- Leber Congenital Amaurosis, LCA, LCA1
- What is being tested?
- ATSN-101, ATSN-101 Diluent Solution and Prednisone
- Type of treatment
- Pill or oral medicine, Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 15 participants
- Where
- 2 sitesUnited States
- Study dates
- 22 Oct 2019to 19 May 2027
- Phase
- Phase 1/2
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
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
Who may be able to join
- Male or female participant with clinical diagnosis of Leber congenital amaurosis caused by biallelic mutations in the GUCY2D (retinal guanylate cyclase) gene with all of the following: a) Documented mutations in both alleles of the GUCY2D gene per testing in a CLIA-approved laboratory, b) For Cohort 1-3, best corrected visual acuity (BCVA) of 20/200 or worse in the eye to be injected; subsequent cohorts may include BCVA of 20/80 or worse in the eye to be injected, c) Photoreceptor (outer nuclear) layer structure identifiable on an optical coherence tomography (OCT) scan across the central retina.
- Age ≥18 years for Cohorts 1 through 4, and age ≥ 6 years and <18 years for Cohort 5.
- Male and female participants must follow the contraception requirements of the trial.
- Participants must agree to not donate blood, organs, tissues, cells or sperm for at least three months following ATSN-101 administration.
Who cannot join
- Complicating systemic diseases (such as medical conditions causing immunosuppression) that would preclude the gene transfer, ocular surgery or planned study procedures.
- History of human immunodeficiency virus (HIV) infection.
- Pre-existing eye conditions in the study eye that would preclude the planned surgery or interfere with the assessment and interpretation of study endpoints: for example, glaucoma or optic neuropathy that has resulted in significant visual loss, corneal or lenticular abnormalities or opacities that would preclude view of the fundus or performance of the outcome measures, uveitis, retinopathy and maculopathy that in the opinion of the Investigator are causing significant visual loss.
- Presence of significant ocular abnormalities in the study eye that in the opinion of the Investigator would preclude the planned surgery, effective safety follow-up, or interfere with the interpretation of study endpoints (eg, glaucoma, corneal or significant lens abnormalities or opacities, pre-existing uveitis, intraocular infection, choroidal neovascularization).
- Any contraindication to the planned surgical procedure, such as contraindications to the use of anaesthesia or allergy to medications planned in the peri-operative period.
- Known allergy or hypersensitivity to any component of the investigational medicinal product (IMP), diagnostic agents used during the study or medications planned for use in the peri-operative period, particularly corticosteroids.
Show all 18Show fewer
- Women who are pregnant (defined as positive beta-Human Chorionic Gonadotropin (HCG) blood or urine test), lactating or breastfeeding.
- Any ocular procedure, either planned or performed within 6 months of Day 1, which would interfere with the planned surgery or the interpretation of study endpoints in the opinion of the Principal Investigator (PI).
- Laboratory test abnormalities or abnormalities in electrocardiogram that in the opinion of the PI would make the participant unsuitable for participation in the study.
- Significant intercurrent illness or infection during the 28 days prior to enrollment.
- Current substance use disorder.
- Use of any investigational agent administered within 5 times the elimination half-life of that investigational agent prior to ATSN-101 administration.
- Enrollment in any other clinical treatment study, for any condition, including those relating to GUCY2D-LCA, throughout the duration of the ATSN-101 study participation.
- Use of anticoagulation therapy within two weeks prior to surgery.
- Use of immunosuppressive medications.
- Current, planned during the course of this trial, or past (within 5 times the elimination half-life of that therapy prior to ATSN-101 administration) use of anti-viral therapy that would inactivate the investigational agent.
- Received gene therapy within the last 15 years.
- The above information is not intended to contain all considerations relevant to a patient's potential participation in a clinical trial.
Trial locations and contacts
2 sites in 1 country.
United States2 sites
Scheie Eye Institute, University of Pennsylvania
Philadelphia, Pennsylvania, 19104
Casey Eye Institute - Oregon Health & Science University
Portland, Oregon, 97239
About this study
Official title: A Phase 1/2 Dose Escalation Study of Subretinally Injected ATSN-101 Administered in Patients With Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2D
Primary Objective:
To evaluate the safety and tolerability of ascending doses of ATSN-101 administered as a unilateral subretinal injection in patients with Leber Congenital Amaurosis (LCA) caused by autosomal recessive guanylate cyclase 2D (GUCY2D) mutations (GUCY2D-LCA).
Secondary Objective:
To evaluate the efficacy of ascending doses of ATSN-101 administered as a unilateral subretinal injection in patients with GUCY2D-LCA.
Read the detailed description
Study duration per participant is approximately 112 weeks including: an approximately 56-day screening/baseline period, an approximately 52-week study observation period including 1 treatment day, and an approximately 52-week safety follow-up period. The end of study visit will be approximately 260 weeks after the Investigational Medicinal Product (IMP) administration.
The study is separated into 2 parts including a dose escalation phase (Part A) and a dose expansion phase (Part B). In Part B participants will be treated at the maximum tolerated dose (MTD) or maximum administered dose (MAD) determined from Part A.
- Conditions
- Leber Congenital Amaurosis, LCA, LCA1
- Being tested
- ATSN-101, ATSN-101 Diluent Solution, Prednisone, Triamcinalone Acetonide, 1% Prednisolone
- Keywords
- GUCY2D
- Medical subject headings
- Leber Congenital Amaurosis, Retinal cone dystrophy 2
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
ATSN-101Drug
Pharmaceutical form:Solution for intraocular administration Route of administration: Subretinal injection
ATSN-101 Diluent SolutionDrug
Pharmaceutical form:Solution for parenteral use Route of administration: Subretinal injection
PrednisoneDrug
Pharmaceutical form:Tablet Route of administration: Oral
Triamcinalone AcetonideDrug
Pharmaceutical form:Suspension Route of administration: Peri-ocular injection
1% PrednisoloneDrug
Pharmaceutical form:Suspension Route of administration: Drops
Trimethoprim/polymyxin BDrug
Pharmaceutical form:Solution Route of administration: Topical
| Study group | Role | What they receive |
|---|---|---|
| ATSN-101 | Experimental | ATSN-101 single dose according to an ascending dose design (dose escalation phase) or ATSN-101 single dose (dose expansion phase) Receives: Drug: ATSN-101; Drug: ATSN-101 Diluent Solution; Drug: Prednisone; Drug: Triamcinalone Acetonide; Drug: 1% Prednisolone; Drug: Trimethoprim/polymyxin B |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Participants With Adverse Events (AEs) From Baseline up to the End of the Observation Period
Number of participants with treatment-emergent AEs will be summarized in each cohort (this includes cohorts 1 - 5)
Measured: From Baseline to Week 52
Secondary outcomes (7)
Change From Baseline of Best-Corrected Visual Acuity (BCVA) Between the Treated and Untreated Eyes
Mean change from Baseline to Week 52 in BCVA (LogMAR) in the treated eye and untreated eye (control).
In logMAR notation (logarithm of the minimum angle of resolution) is interpreted as follows:
Lower LogMAR values indicates better vision. Higher LogMAR values indicates worse vision.
Measured: Baseline to Week 52
Change From Baseline of Sensitivity Between the Treated and Untreated Eye - Light Adapted
Mean change from Baseline to Week 52 in sensitivity as measured by the full-field stimulus testing - Light Adapted in the treated eye and untreated eye. Full-field stimulus testing was performed for three stimulus colors - blue, red, and white.
Measured: Baseline to Week 52
Mean Change From Baseline of Sensitivity Between the Treated and Untreated Eye - Dark Adapted
Mean change from Baseline to Week 52 in sensitivity as measured by the full-field stimulus testing - Dark Adapted in the treated eye and untreated eye. Full-field stimulus testing was performed for three stimulus colors - blue, red, and white.
Measured: Baseline to Week 52
Number of Participants With Adverse Events (AEs) From Baseline up to the End of the Observation Period
Number of participants with treatment-emergent AEs will be summarized in each cohort (this includes cohorts 1 - 5)
Measured: From Baseline to Week 260
Change From Baseline of Best-Corrected Visual Acuity (BCVA) Between the Treated and Untreated Eyes
Mean change from Baseline to Week 260 in BCVA (LogMAR) in the treated eye and untreated eye (control).
In logMAR notation (logarithm of the minimum angle of resolution) is interpreted as follows:
Lower LogMAR values indicates better vision. Higher LogMAR values indicates worse vision.
Measured: Baseline to Week 260
Change From Baseline of Sensitivity Between the Treated and Untreated Eye - Light Adapted
Mean change from Baseline to Week 260 in sensitivity as measured by the full-field stimulus testing - Light Adapted in the treated eye and untreated eye. Full-field stimulus testing was performed for three stimulus colors - blue, red, and white.
Measured: Baseline to Week 260
Mean Change From Baseline of Sensitivity Between the Treated and Untreated Eye - Dark Adapted
Mean change from Baseline to Week 260 in sensitivity as measured by the full-field stimulus testing - Dark Adapted in the treated eye and untreated eye. Full-field stimulus testing was performed for three stimulus colors - blue, red, and white.
Measured: Baseline to Week 260
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Apr 2019
- Study start22 Oct 2019
- Primary completion19 May 2023
- Study completion19 May 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Leber Congenital AmaurosisStudies 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
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 15 participants (actual)
Sponsor and investigators
- Lead sponsor
- Atsena Therapeutics Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03920007
- Sponsor's protocol ID
- ATSN-101-1
- Other IDs
- U1111-1200-1308
- Status last verified
- Jul 2026
- First submitted
- 10 Apr 2019
- Last updated
- 3 Aug 2026
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- Yes: Qualified researchers may request access to patient level data and related study documents including the clinical study report, study protocol with any amendments, blank case report form, statistical analysis plan, and dataset specifications. Patient level data will be anonymized and study documents will be redacted to protect the privacy of trial participants. Further details on Sanofi's data sharing criteria, eligible studies, and process for requesting access can be found at: https://www.clinicalstudydatarequest.com/
Study at a glance
From the registry record, last updated by the sponsor on 3 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Phase 1/2 Dose Escalation Study of Subretinally Injected ATSN-101 Administered in Patients With Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2D
- ClinicalTrials.gov ID
- NCT03920007
- Acronym / sponsor ID
- ATSN-101-1
- Conditions
- Leber Congenital Amaurosis, LCA, LCA1
- Keywords
- GUCY2D
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 15 participants (actual)
- Lead sponsor
- Atsena Therapeutics Inc.Industry (pharma, biotech, devices)
- Study start
- 22 Oct 2019 (actual)
- Primary completion
- 19 May 2023 (actual)
- Study completion
- 19 May 2027 (estimated)
- First posted
- 18 Apr 2019 (actual)
- Results
- Posted 3 Aug 2026
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Primary Objective:
To evaluate the safety and tolerability of ascending doses of ATSN-101 administered as a unilateral subretinal injection in patients with Leber Congenital Amaurosis (LCA) caused by autosomal recessive guanylate cyclase 2D (GUCY2D) mutations (GUCY2D-LCA).
Secondary Objective:
To evaluate the efficacy of ascending doses of ATSN-101 administered as a unilateral subretinal injection in patients with GUCY2D-LCA.
Detailed description
Study duration per participant is approximately 112 weeks including: an approximately 56-day screening/baseline period, an approximately 52-week study observation period including 1 treatment day, and an approximately 52-week safety follow-up period. The end of study visit will be approximately 260 weeks after the Investigational Medicinal Product (IMP) administration.
The study is separated into 2 parts including a dose escalation phase (Part A) and a dose expansion phase (Part B). In Part B participants will be treated at the maximum tolerated dose (MTD) or maximum administered dose (MAD) determined from Part A.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| ATSN-101 | Experimental | Drug: ATSN-101, Drug: ATSN-101 Diluent Solution, Drug: Prednisone, Drug: Triamcinalone Acetonide, Drug: 1% Prednisolone, Drug: Trimethoprim/polymyxin BATSN-101 single dose according to an ascending dose design (dose escalation phase) or ATSN-101 single dose (dose expansion phase) |
Who may qualify
- Ages
- 6 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- Male or female participant with clinical diagnosis of Leber congenital amaurosis caused by biallelic mutations in the GUCY2D (retinal guanylate cyclase) gene with all of the following: a) Documented mutations in both alleles of the GUCY2D gene per testing in a CLIA-approved laboratory, b) For Cohort 1-3, best corrected visual acuity (BCVA) of 20/200 or worse in the eye to be injected; subsequent cohorts may include BCVA of 20/80 or worse in the eye to be injected, c) Photoreceptor (outer nuclear) layer structure identifiable on an optical coherence tomography (OCT) scan across the central retina.
- Age ≥18 years for Cohorts 1 through 4, and age ≥ 6 years and <18 years for Cohort 5.
- Male and female participants must follow the contraception requirements of the trial.
- Participants must agree to not donate blood, organs, tissues, cells or sperm for at least three months following ATSN-101 administration.
Key exclusion criteria (18 listed)
- Complicating systemic diseases (such as medical conditions causing immunosuppression) that would preclude the gene transfer, ocular surgery or planned study procedures.
- History of human immunodeficiency virus (HIV) infection.
- Pre-existing eye conditions in the study eye that would preclude the planned surgery or interfere with the assessment and interpretation of study endpoints: for example, glaucoma or optic neuropathy that has resulted in significant visual loss, corneal or lenticular abnormalities or opacities that would preclude view of the fundus or performance of the outcome measures, uveitis, retinopathy and maculopathy that in the opinion of the Investigator are causing significant visual loss.
- Presence of significant ocular abnormalities in the study eye that in the opinion of the Investigator would preclude the planned surgery, effective safety follow-up, or interfere with the interpretation of study endpoints (eg, glaucoma, corneal or significant lens abnormalities or opacities, pre-existing uveitis, intraocular infection, choroidal neovascularization).
- Any contraindication to the planned surgical procedure, such as contraindications to the use of anaesthesia or allergy to medications planned in the peri-operative period.
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 |
|---|---|---|
| ATSN-101Pharmaceutical form:Solution for intraocular administration Route of administration: Subretinal injection | Drug | ATSN-101 |
| ATSN-101 Diluent SolutionPharmaceutical form:Solution for parenteral use Route of administration: Subretinal injection | Drug | ATSN-101 |
| PrednisonePharmaceutical form:Tablet Route of administration: Oral | Drug | ATSN-101 |
| Triamcinalone AcetonidePharmaceutical form:Suspension Route of administration: Peri-ocular injection | Drug | ATSN-101 |
| 1% PrednisolonePharmaceutical form:Suspension Route of administration: Drops | Drug | ATSN-101 |
| Trimethoprim/polymyxin BPharmaceutical form:Solution Route of administration: Topical | Drug | ATSN-101 |
Primary outcome
Number of Participants With Adverse Events (AEs) From Baseline up to the End of the Observation Period
Time frame: From Baseline to Week 52
Number of participants with treatment-emergent AEs will be summarized in each cohort (this includes cohorts 1 - 5)
7 secondary outcomes
Change From Baseline of Best-Corrected Visual Acuity (BCVA) Between the Treated and Untreated Eyes
Time frame: Baseline to Week 52
Change From Baseline of Sensitivity Between the Treated and Untreated Eye - Light Adapted
Time frame: Baseline to Week 52
Mean Change From Baseline of Sensitivity Between the Treated and Untreated Eye - Dark Adapted
Time frame: Baseline to Week 52
Number of Participants With Adverse Events (AEs) From Baseline up to the End of the Observation Period
Time frame: From Baseline to Week 260
Change From Baseline of Best-Corrected Visual Acuity (BCVA) Between the Treated and Untreated Eyes
Time frame: Baseline to Week 260
Change From Baseline of Sensitivity Between the Treated and Untreated Eye - Light Adapted
Time frame: Baseline to Week 260
Mean Change From Baseline of Sensitivity Between the Treated and Untreated Eye - Dark Adapted
Time frame: Baseline to Week 260
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Aug 2026.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Individual participant dataSharing planned: Yes. Qualified researchers may request access to patient level data and related study documents including the clinical study report, study protocol with any amendments, blank case report form, statistical analysis plan, and dataset specifications. Patient level data will be anonymized and study documents will be redacted to protect the privacy of trial participants. Further details on Sanofi's data sharing criteria, eligible studies, and process for requesting access can be found at: https://www.clinicalstudydatarequest.com/
Related trials for Leber Congenital Amaurosis
RecruitingPhase 1/2
Safety and Tolerability of Subretinal OPGx-RDH12-1001 for LCA-Associated Inherited Retinal Degeneration (LCA-IRD)
Leber Congenital Amaurosis, Leber Congenital Amaurosis (LCA)
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
RecruitingPhase 3
Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
Leber Congenital Amaurosis 10, Blindness
Active, not recruitingObservational study
Long-term Follow-up Study in Subjects Who Received Voretigene Neparvovec-rzyl (AAV2-hRPE65v2)
Inherited Retinal Dystrophy Due to RPE65 Mutations
Active, not recruitingPhase 1/2
Study to Assess the Safety and Efficacy of OCU400 for Retinitis Pigmentosa and Leber Congenital Amaurosis
Retinitis Pigmentosa, Leber Congenital Amaurosis
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.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing ATSN-101, ATSN-101 Diluent Solution and Prednisone in people with Leber Congenital Amaurosis and LCA, run by Atsena Therapeutics Inc. at 2 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 4 inclusion and 18 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: under way, not looking for participants, as of the sponsor's last update on 3 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 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.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Yes. Results are posted in the registry (first posted 3 Aug 2026). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
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?
Number of Participants With Adverse Events (AEs) From Baseline up to the End of the Observation Period (time frame: From Baseline to Week 52). 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 3 Aug 2026.