Retinal Detachment Prevention (Laser Prophylaxis) in Stickler Syndrome (SS) (OSC/SS)

Helen Keller Eye Research Foundation

Status

Enrolling

Conditions

Stickler Syndrome Type 2

Stickler Syndrome Type 1

Treatments

Procedure: Prophylactic (non-invasive) Laser Retinopexy

Study type

Interventional

Funder types

Other

Identifiers

NCT07146516

OSC/SS

Details and patient eligibility

About

The goal of this clinical trial is to prospectively document to what extent the OSC/SS prophylactic laser retinopexy procedure works to prevent retinal detachment in SS in children and adults.

Researchers will compare the OSC/SS procedure in SS to the natural progression of SS to see to what extent the OSC/SS procedure works to prevent retinal detachment.

Participants will:

Have the OSC/SS procedure in one or both eyes
Have eye tests
Have genetic testing for SS as needed
Visit the study center 9 times over 5 years for checkups and tests

Full description

Prophylactic treatment for RD has been well-documented to be safe and effective for specific predisposing conditions, but parameters are not standardized and are poorly documented in the literature for Stickler syndrome. There is significant, but only retrospective, evidence in the scientific literature that non-invasive, encircling (360 degree) laser prophylaxis (cerclage prophylaxis) reduces the rate of retinal detachment in patients with Stickler syndrome by approximately five-fold. In February 2025, the American Academy of Ophthalmology (AAO) endorsed 360-degree cerclage laser prophylaxis for Stickler syndrome based on retrospective evidence. A statistical review of pertinent articles concluded that prophylactic laser therapy was associated with a significantly lower risk of retinal detachment in patients with Stickler syndrome compared to no laser prophylaxis. This clinical trial is designed to offer OSC/SS as the optimal form of such prevention, and to prospectively document, in a standardized manner, the extent to which it prevents retinal detachment in patients with Stickler syndrome.

This clinical trial aims to address the lack of standardized documentation in previous literature and studies by providing standardized treatment parameters and rigorously documenting the OSC/SS technique. By evaluating the safety and efficacy of OSC/SS in preventing RD in Stickler syndrome patients, this study seeks to establish a benchmark for future clinical practice and research.

The primary objective is to demonstrate the efficacy of the OSC/SS procedure compared to the natural progression of SS to prevent RD for individuals with SS. This comparison will be made using historical control data provided by Cambridge University, which documents the rate of occurrence of RD in the absence of prior prophylactic treatment. Cambridge University maintains a large SS database, consisting of decades of clinical and research data on Stickler syndrome populations, providing the necessary control raw data for this study population. If the OSC/SS procedure proves to be adequately successful in the study, then it may become the gold standard treatment used to prevent RD in patients with SS and, with modifications, other populations at high risk for RD.

Enrollment

500 estimated patients

Sex

All

Volunteers

No Healthy Volunteers

Inclusion criteria

Eligible for prophylactic laser retinopexy
Capable of giving signed informed consent, and assent (as appropriate)
Signature of research informed consent form from participant, or participant's legally authorized representative (LAR)/parent(s)/legal guardian
Male or female of any age
SS type 1 or type 2 confirmed by genetic testing

Exclusion criteria

Presence of media opacity (for example, dense cataract, corneal scar) or poor pupillary dilation that precludes adequate OSC/SS performance, laser treatment, or imaging.
Prior prophylactic laser treatment that cannot be supplemented to achieve a complete OSC/SS pattern or exceeds the designated OSC/SS pattern.
RD in the eye to be treated.
Significant intraocular hemorrhage in the eye to be treated.
Uncontrolled ocular conditions (e.g., glaucoma) that may be worsened by the procedure or preclude follow-up.
Any other ocular condition that precludes the ability to perform adequate laser treatment under scleral depression.
Any systemic medical contraindication where the risk of intervention outweighs the potential benefit.
Known pathogenic mutations in genes associated with other inherited retinal detachment syndromes, including but not limited to: FEVR-related genes: FZD4, LRP5, TSPAN12, NDPX-linked retinoschisis (RS1) Wagner Syndrome (VCAN).
Other syndromes associated with increased risk of retinal detachment (for example, Knobloch syndrome, Marfan syndrome, Pierson syndrome).
History of Coats disease.
History of Retinopathy of Prematurity (with or without laser treatment).
Previous laser photocoagulation in the study eye for any indication, including Retinopathy of prematurity (ROP) Panretinal photocoagulation for diabetic retinopathy.
Laser to lattice degeneration or 360-degree laser cerclage for Stickler Syndrome that cannot be supplemented to meet OSC/SS criteria.
Previous cryopexy.
Previous scleral buckle.
Previous vitrectomy in the study eye for any reason.
Significant peripheral retinal pathology unrelated to Stickler that increases the risk of retinal detachment including but not limited to: retinoschisis, hemorrhages, angiomatous lesions, pars planitis.
History of ocular trauma with significant trauma to the posterior segment of the eye and may increase the risk of retinal detachment including Ruptured globe, Vitreous hemorrhage, Commotio retinae, Traumatic macular hole, Intraocular foreign body.
Inability or unwillingness to comply with required follow-up schedule (clinical visits, imaging).
Anticipated relocation, foster care instability, or any factor significantly limiting longitudinal follow-up.
Investigator judgment: Any condition not listed above that could interfere with the trial's integrity or subject safety.