Sirolimus for Retinal Astrocytic Hamartoma

Not Applicable

Completed

• Conditions: Retinal Astrocytic Hamartoma
• Interventions: Drug: Sirolimus

• Registration Number: NCT04707209
• Lead Sponsor: The Hospital for Sick Children

Brief Summary

A single patient study using intravitreal Sirolimus to treat a patient with multiple retinal astrocytic hamartomas (RAH) of both eyes.

Detailed Description

Retinal astrocytic hamartomas (RAH) are benign tumors of glial cells arising from astrocytes in the nerve-fiber layer of the retina. They are often associated with tuberous sclerosis complex (TSC) and, more rarely, neurofibromatosis type 1 (NF1). RAH may be caused by dysregulated tumor suppressors genes TSC1 or TSC2, which play a role in cell cycle regulation in retinal astrocytes via the PDGF-signalling pathway. Downregulation of TSC1 or TSC2 can result in hyperactivation of mTOR. Sirolimus is an inhibitor of mTOR, therefore inhibiting cell growth and proliferation of astrocytes. Systemic mTOR inhibitors (sirolimus and everolimus) have shown impressive reduction in the size of RAH in animal models and many human case series.

This single patient study is investigating the use of concurrent oral and intravitreal Sirolimus to treat a patient with multiple retinal astrocytic hamartomas (RAH) of both eyes to improve intraocular response and reduce duration of treatment. The patient has no other clinical features suggestive of neurofibromatosis and a presumed diagnosis of tuberous sclerosis is being considered, with only two hypopigmented skin lesions noted.

Study Timeline

• Study Start: 2020-11-04
• Study First Submitted: 2020-12-16
• Study First Submitted QC: 2021-01-11
• Study First Posted: 2021-01-13
• Status Verified: 2024-03
• Primary Completion: 2024-03-22
• Study Completion: 2024-03-22
• Last Update Submitted: 2024-03-22
• Last Update Posted: 2024-03-25

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Male
• Target Recruitment: 1

Inclusion Criteria

Not provided

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Exclusion Criteria

Not provided

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Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Intravitreal Sirolimus	Sirolimus	-

Primary Outcome Measures

Name	Time	Method
Size of Retinal Astrocytic Hamartomas compared to baseline	21 months	Measured by ophthalmic imaging
Amount of retinal exudate compared to baseline	21 months	Measured by ophthalmic imaging
Retinal detachment progression/regression compared to baseline	21 months	Measured by ophthalmic imaging

Secondary Outcome Measures

Name	Time	Method
Visual acuity compared to baseline	21 months	Measured using logMAR virtual activity test

Trial Locations

Locations (1)

The Hospital for Sick Children; 🇨🇦 Toronto, Ontario, Canada