ATSN-201 Gene Therapy In RS1-Associated X-linked Retinoschisis

Overview

About this study

This study will evaluate the safety and efficacy of ATSN-201 in subjects ≥ 5 years of age with RS1-associated X-linked retinoschisis (XLRS).

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Part A and B:

Inclusion Criteria:

1. Age ≥ 18 for Cohorts 1 through 4, and age ≥ 6 years and < 18 years for Cohort 5.
2. Male patients with clinical diagnosis of XLRS caused by mutations in RS1.
3. Best corrected visual acuity (BCVA) in study eye of 34 to 73 Early Treatment Diabetic Retinopathy Study (ETDRS) letters (corresponding to a Snellen acuity of 20/200 to 20/40).
4. Presence of foveal schisis and /or parafoveal/perifoveal schisis in the study eye on SD-OCT per the Principal Investigator.

Exclusion Criteria:

1. Pre-existing eye conditions in the study eye that would contribute significantly to an increased risk of visual loss from a subretinal injection (eg, advanced glaucoma, optic neuropathy, uveitis, corneal transplants).
2. Any intraocular surgery (including laser treatment) in the study eye within 6 months prior to Screening or any intraocular surgery anticipated in the study eye during the first 12 months of the study.
3. Treatment in a prior ocular gene or cell therapy study.

Part C:

Inclusion Criteria:


Note: For patients ineligible for bilateral dosing based on the ocular exclusion criteria, the same eye must meet all ocular inclusion criteria, but none of the ocular exclusion criteria, to be eligible for unilateral dosing.

General All of the following criteria must be met for unilateral or bilateral dosing.

1. Age ≥ 5 years.
2. Genetically male patients with clinical diagnosis of XLRS caused by pathogenic or likely pathogenic mutations in RS1 OR Genetically female patients with clinical diagnosis of XLRS caused by biallelic pathogenic or likely pathogenic mutations in RS1.

Ocular At least 1 eye must meet all of the following criteria for both unilateral and bilateral dosing.
3. BCVA of 34 to 73 ETDRS letters (corresponding to a Snellen acuity of 20/200 to 20/40).
4. Presence of foveal schisis on SD-OCT.

Exclusion Criteria:

General None of the following criteria can be met for unilateral or bilateral dosing.

1. Treatment with any carbonic anhydrase inhibitor (oral or topical) within 1 month prior to Screening.
2. Treatment in a prior ocular gene or cell therapy study.
3. Absence of macular schisis.
4. BCVA better than 75 ETDRS letters (corresponding to a Snellen acuity of 20/32).
5. Pre-existing eye conditions that would contribute significantly to an increased risk of visual loss from a subretinal injection (eg, advanced glaucoma, optic neuropathy, uveitis, corneal transplants).
6. Any intraocular surgery (including laser treatment) within 6 months prior to Screening or any intraocular surgery anticipated during the first 12 months of the study (laser treatment is allowed as long as it occurs at least 2 weeks before surgery).

Note: Other protocol defined Inclusion/Exclusion Criteria may apply.

Eligibility last updated 10/23/2026. Questions regarding updates should be directed to the study team contact.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Raymond Iezzi JR, M.D.

Open for enrollment

Contact information:

Suzanne Wernimont

5075388119

wernimont.suzanne@mayo.edu

More information

Publications

Publications are currently not available