A Phase 1/2/3 Study Of ATSN-201 Gene Therapy In Subjects With RS1-Associated X-linked Retinoschisis

Overview

About this study

The purpose of this study is to evaluate the safety and tolerability of ATSN-201 delivered subretinally in male subjects ≥ 6 years of age with RS1-associated 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.

Inclusion Criteria:

  • Age ≥ 18 years for Cohorts 1 through 4, and age ≥ 6 years and < 18 years for Cohort 5.

  • Genetically male patients with clinical diagnosis of XLRS caused by pathogenic or likely pathogenic mutations in RS1 by a Clinical Laboratory Improvement Amendments (CLIA)-approved or International Organization for Standardization (ISO) 15189-accredited laboratory.

  • BCVA in the study eye of 34 to 73 Early Treatment Diabetic Retinopathy Study (ETDRS) letters (corresponding to a Snellen acuity of 20/200 to 20/40).

  • Presence of foveal schisis and/or parafoveal/perifoveal schisis in the study eye on SD-OCT per the Principal Investigator.

  • Willing to use barrier contraception methods or abstain from sexual intercourse for a period of 3 months following study treatment administration.

  • Signed and dated written informed consent (or assent in the case of minors from their legal guardian/representative), in accordance with the local regulations.

  • At least 2 tests (out of a maximum of 3 tests), performed on the study eye at the Screening/Baseline visit (V1), must have average thresholds within 2.2 dB of each other, with at least one test meeting the following criteria: at least 5 loci on microperimetry with (1) sensitivity > 0 dB and ≤ 19 dB, and (2) ellipsoid zone present at the corresponding retinal location on SD-OCT.

Exclusion Criteria:

  • Presence of bullous, peripheral retinoschisis in the study eye.

  • Presence of clinically significant macular schisis extending past the superotemporal or inferotemporal arcades in the study eye that may impede subretinal injection in the opinion of the Investigator/Surgeon

  • Presence of lens, cornea, or other media opacities in the study eye that may preclude adequate visualization and testing of the retina.

  • Presence or a history of clinically significant vitreous hemorrhage in the study eye.

  • Presence or a history of rhegmatogenous retinal detachment in the study eye.

  • Presence or a history of herpes simplex virus, varicella-zoster virus, or cytomegalovirus infections (eg, keratitis, uveitis, retinitis) in either eye.

  • Presence of any other retinal condition in the opinion of the Investigator that is clinically significant or may confound visual acuity (eg, epiretinal membrane, vitreomacular traction). Signs of or history consistent with clinically significant amblyopia in either eye that could impede assessment of visual function.

  • 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).

  • Concomitant systemic diseases including those in which the disease itself, or the treatment for the disease, can alter ocular function (eg, malignancies whose treatment could affect central nervous system function, diabetes or sickle cell disease with advanced retinopathy, immunodeficiency [acquired or congenital] with risk of opportunistic infection).

  • 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.

  • Treatment with any carbonic anhydrase inhibitor (oral or topical) within 3 months prior to Screening.

  • Current or anticipated treatment with anticoagulant therapy or the use of anticoagulation therapy within the 4 weeks prior to surgery.

  • Treatment in a prior ocular gene or cell therapy study.

  • Any patient who, in the judgment of the Investigator, is likely to be noncompliant during the study, or unable to cooperate with the study procedures.

  • Presence of clinically significant peripheral retinal holes or tears that would increase surgical risk or require significant laser treatment in the study eye in the opinion of the Investigator/Surgeon. 1

  • Any patient who, in the judgment of the Investigator, is not a candidate for appropriate weight-based steroid regimen

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

Eligibility last updated 02/02/2026. 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