Retinal Astrocytic HamartomaNCT04707209
Sirolimus for Retinal Astrocytic Hamartoma
A study testing Sirolimus in people with Retinal Astrocytic Hamartoma, run by The Hospital for Sick Children at 1 site in Canada.
Trial summary
A single patient study using intravitreal Sirolimus to treat a patient with multiple retinal astrocytic hamartomas (RAH) of both eyes. Read more about this study
- Who is it for?
- Ages 15 to 16 years, men only
- Conditions the study is for
- Retinal Astrocytic Hamartoma
- What is being tested?
- Sirolimus
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1 participants
- Where
- 1 siteCanada
- Study dates
- 4 Nov 2020to 22 Mar 2024
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 15 to 16 years
- Men only
- No healthy volunteers
- Child
Single case diagnosed with multiple retinal astrocytic hamartomas (RAH) of both eyes with imminent threat to vision.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Intravitreal Injection of Sirolimus in the Treatment of Aggressive Retinal Astrocytic Hamartoma
A single patient study using intravitreal Sirolimus to treat a patient with multiple retinal astrocytic hamartomas (RAH) of both eyes.
Read the 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.
- Conditions
- Retinal Astrocytic Hamartoma
- Being tested
- Sirolimus
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
SirolimusDrug
Also called DE-109
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.
The interval between injections is roughly suggested to be between 3 to 8 weeks based on the drug deposit present in the eye. A total of 3-12 injections will be given per eye, over 6-24 months.
| Study group | Role | What they receive |
|---|---|---|
| Intravitreal Sirolimus | Experimental | Not described Receives: Drug: Sirolimus |
What is being measured
The primary outcome is the main question the study is designed to answer.
Size of Retinal Astrocytic Hamartomas compared to baseline
Measured by ophthalmic imaging
Measured: 21 months
Amount of retinal exudate compared to baseline
Measured by ophthalmic imaging
Measured: 21 months
Retinal detachment progression/regression compared to baseline
Measured by ophthalmic imaging
Measured: 21 months
Secondary outcomes (1)
Visual acuity compared to baseline
Measured using logMAR virtual activity test
Measured: 21 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Jan 2021
- Study start4 Nov 2020
- Primary completion22 Mar 2024
- Study completion22 Mar 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Retinal Astrocytic HamartomaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 1 participants (actual)
Sponsor and investigators
- Lead sponsor
- The Hospital for Sick Children
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Ashwin Mallipatna, The Hospital for Sick Children
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04707209
- Sponsor's protocol ID
- 1000072947
- Status last verified
- Mar 2024
- First submitted
- 16 Dec 2020
- Last updated
- 25 Mar 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 25 Mar 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Intravitreal Injection of Sirolimus in the Treatment of Aggressive Retinal Astrocytic Hamartoma
- ClinicalTrials.gov ID
- NCT04707209
- Acronym / sponsor ID
- 1000072947
- Conditions
- Retinal Astrocytic Hamartoma
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 1 participants (actual)
- Lead sponsor
- The Hospital for Sick ChildrenUniversity, hospital or other
- Study start
- 4 Nov 2020 (actual)
- Primary completion
- 22 Mar 2024 (actual)
- Study completion
- 22 Mar 2024 (actual)
- First posted
- 13 Jan 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Intravitreal Sirolimus | Experimental | Drug: Sirolimus |
Who may qualify
- Ages
- 15 to 16 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| SirolimusAlso: DE-109An 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. The interval between injections is roughly suggested to be between 3 to 8 weeks based on the drug deposit present in the eye. A total of 3-12 injections will be given per eye, over 6-24 months. | Drug | Intravitreal Sirolimus |
Primary outcome
Size of Retinal Astrocytic Hamartomas compared to baseline
Time frame: 21 months
Measured by ophthalmic imaging
Amount of retinal exudate compared to baseline
Time frame: 21 months
Measured by ophthalmic imaging
Retinal detachment progression/regression compared to baseline
Time frame: 21 months
Measured by ophthalmic imaging
1 secondary outcome
Visual acuity compared to baseline
Time frame: 21 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 25 Mar 2024.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Sirolimus in people with Retinal Astrocytic Hamartoma, run by The Hospital for Sick Children at 1 site in Canada.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 25 Mar 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Size of Retinal Astrocytic Hamartomas compared to baseline (time frame: 21 months). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 25 Mar 2024.