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Sirolimus for Retinal Astrocytic Hamartoma

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ClinicalTrials.gov Identifier: NCT04707209
Recruitment Status : Recruiting
First Posted : January 13, 2021
Last Update Posted : January 13, 2021
Sponsor:
Information provided by (Responsible Party):
Ashwin Mallipatna, 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.

Condition or disease Intervention/treatment Phase
Retinal Astrocytic Hamartoma Drug: Sirolimus Not Applicable

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.

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 1 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Intravitreal Injection of Sirolimus in the Treatment of Aggressive Retinal Astrocytic Hamartoma
Actual Study Start Date : November 4, 2020
Estimated Primary Completion Date : December 31, 2021
Estimated Study Completion Date : December 31, 2021

Resource links provided by the National Library of Medicine

Drug Information available for: Sirolimus

Arm Intervention/treatment
Experimental: Intravitreal Sirolimus Drug: Sirolimus

An intravitreal injection of 20 µL of drug will be given through the pars plana of the eye. The injected eye will be treated with topical antibiotic and steroid eye drops prescribed for 7 to 10 days after the injection. The first injection will only be provided into the worse eye despite both eyes showing signs of exudation. Injection into the other eye will be considered only two months after the safety of this first injection is determined.

Safety and efficacy of treatment will be determined by repeat eye examinations in the eye clinic one day, one week and one month after each injection.

Injections will be repeated every eight weeks. A total of 3-6 injections will be given per eye, over 6-12 months. The current treatment plan is for a maximum of six injections per eye, which may be amended to accommodate more in the future.

Other Name: DE-109




Primary Outcome Measures :
  1. Size of Retinal Astrocytic Hamartomas compared to baseline [ Time Frame: 14 months ]
    Measured by ophthalmic imaging

  2. Amount of retinal exudate compared to baseline [ Time Frame: 14 months ]
    Measured by ophthalmic imaging

  3. Retinal detachment progression/regression compared to baseline [ Time Frame: 14 months ]
    Measured by ophthalmic imaging


Secondary Outcome Measures :
  1. Visual acuity compared to baseline [ Time Frame: 14 months ]
    Measured using logMAR virtual activity test



Information from the National Library of Medicine

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Ages Eligible for Study:   15 Years to 16 Years   (Child)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Criteria
Single case diagnosed with multiple retinal astrocytic hamartomas (RAH) of both eyes with imminent threat to vision.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04707209


Contacts
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Contact: Ashwin Mallipatna, MD 416-813-7654 ext 207403 ashwin.mallipatna@sickkids.ca
Contact: Kaitlyn Flegg, MSc 416-813-7654 ext 203287 kaitlyn.flegg@sickkids.ca

Locations
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Canada, Ontario
The Hospital for Sick Children Recruiting
Toronto, Ontario, Canada, M5G1X8
Contact: Kaitlyn Flegg, MSc    416-813-7654 ext 203287    Kaitlyn.flegg@sickkids.ca   
Sponsors and Collaborators
The Hospital for Sick Children
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Responsible Party: Ashwin Mallipatna, Paediatric Ophthalmologist, The Hospital for Sick Children
ClinicalTrials.gov Identifier: NCT04707209    
Other Study ID Numbers: 1000072947
First Posted: January 13, 2021    Key Record Dates
Last Update Posted: January 13, 2021
Last Verified: January 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Hamartoma
Neoplasms
Sirolimus
Anti-Bacterial Agents
Anti-Infective Agents
Antibiotics, Antineoplastic
Antineoplastic Agents
Antifungal Agents
Immunosuppressive Agents
Immunologic Factors
Physiological Effects of Drugs