Stickler Syndrome
Conditions
Keywords
Stickler syndrome, Retinal detachment, Prophylaxis, Collagen
Brief summary
The purpose of this study is to determine whether a scleral buckling surgical procedure performed on fellow eyes of patients with genetically confirmed Stickler syndrome can prevent the occurrence retinal detachment and/or severe vision loss of the study eye.
Detailed description
Stickler syndrome (STL) is a genetic disease affecting several organs. However the major risk is represented by the development of retinal detachment (RD). Up to 80% of patients present a RD and 25% to 80% have sequential bilateral RD. The surgical outcome of RD in this population is worse than that of the general RD population mainly because of the severity at diagnosis and the high frequency and severity of postoperative complications. Prevention has therefore emerged as a therapeutic option for this identifiable high-risk group of patients. Prevention has been proposed especially for the fellow (contralateral) eye of patients having presented a RD in their first eye and often lost vision as a consequence of retinal detachment in the first eye. The investigators hypothesize that a scleral buckling surgical procedure performed for the fellow eye of STL patients having recently presented a RD of the first eye could prevent the occurrence of bilateral RD and/or vision loss. Stickler patients are regularly diagnosed and followed-up in referral centers mainly in the context of a recent retinal detachment. They are proposed genetic testing as part of the standard of care. Genetically confirmed Stickler patients having recently presented (\<24 months) a retinal detachment and treated as part of the standard care are eligible for this study. During the usual follow-up visits performed for their recent first RD operation they will be informed and offered to participate in the "STL-DR-PREV study" for the prevention of RD of their fellow eye. Patients in the intervention arm will undergo an encircling scleral buckle surgical procedure, which is a routine surgical procedure used for decades and still in use to treat RD that will be performed in the present study to prevent rather than to treat retinal detachment from a healthy eye of a patient having a genetically confirmed Stickler Syndrome.
Interventions
PROCEDUREEncircling scleral buckle surgical procedure
Encircling scleral buckle surgical procedure under general anesthesia
Sponsors
Assistance Publique - Hôpitaux de Paris
URC-CIC Paris Descartes Necker Cochin
Study design
Allocation
RANDOMIZED
Intervention model
PARALLEL
Primary purpose
PREVENTION
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
5 Years to 35 Years
Healthy volunteers
No
Inclusion criteria
* Genetically confirmed Stickler Syndrome * Aged 5 to 35 * Recent retinal detachment in the non-study eye (\<24 months) * Signed informed consent to participate in the study; For the minors, information and consent of the holders of parental authority * Sufficient patient cooperation to perform a complete ophthalmologic examination including a dilated fundus examination * Patients affiliated with social security or CMU (profit or being entitled)
Exclusion criteria
* • Any type of previous prevention (laser, cryotherapy, scleral buckle) for the study eye * Subclinical retinal rhegmatogenous detachment in the study eye. * Any other ocular disease unrelated to Stickler syndrome significantly affecting visual acuity (ETDRS BCVA\<20/400). * Contraindications to general anesthesia * Posterior vitreoretinal traction on optical coherence tomography * Pregnant or breastfeeding women * Any patient presenting an intraocular pressure during the inclusion visit (M-3) greater than 30 mm Hg * Hypersensitivity to povidone iodine, iodine or any of the excipients of the specialty used * Hypersensitivity to acetazolamide or any of the excipients of the specialty used * Severe hepatic, renal or adrenal insufficiency * Sulfonamide intolerance * History of renal colic * Pre-existing plasma hyperosmolarity * Predominantly intracellular dehydration * Hypersensitivity to dexamethasone or any of the excipients of the specialty used * Hypersensitivity to oxytetracycline or to any of the excipients of Sterdex * Treatment with retinoids * Hypersensitivity to the active substances or to any of the excipients of Chibrocadron® * Personal or family history of glaucoma(Open angle primary glaucoma only) * Intraoperative detection of one or more of the above-mentioned non-inclusion criteria
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Best corrected visual acuity and retinal detachment rate | 5 years | Early Treatment Diabetic Retinopathy Study (ETRDS) best corrected visual acuity (BCVA) and dilated funduscopic examinations at scheduled follow-up (every 6 months) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Rate of retinal breaks | 5 years | — |
| Rate of intravitreal hemorrhage | 5 years | — |
| Outcome in prevention-failed study eyes | 5 years | outcome of surgery for RD in the study eye of patients for whom prevention failed and had to be operated on for RD repair of the study eye |
| Effect of add-on cryotherapy | 5 years | To assess within the experimental arm whether patients having had cryotherapy as part (allowed by the protocol at the surgeon's discretion in addition to the standard procedure) of the scleral buckling procedure present a decrease in the rate of RD as compared to buckled patients without cryotherapy |
| Safety of the experimental procedure | 5 years | Safety issues related to the experimental surgical procedure will be reported and coded following MEDRA classification |
Countries
France
Contacts
STUDY_DIRECTORAntoine BREZIN, MD,Phd
Assistance Publique - Hôpitaux de Paris
PRINCIPAL_INVESTIGATORPierre-Raphael ROTHSHILD, MD, PhD
Assistance Publique - Hôpitaux de Paris
Outcome results
None listed