Sturge Weber SyndromePhase 2NCT01997255
Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome (SWS)
A Phase 2 study testing Everolimus in people with Sturge Weber Syndrome, run by Baylor College of Medicine at 1 site in United States.
Trial summary
Sturge Weber Syndrome (SWS) is a rare disease that affects the patient's brain and causes benign (non-cancerous) tumors to grow in the brain. One of the symptoms of SWS is epilepsy. People with epilepsy have seizures. Some patients may also have eye problems and a red mark on their facial skin. Read more about this study
- Who is it for?
- Ages 2 to 18 years
- Conditions the study is for
- Sturge Weber Syndrome
- What is being tested?
- Everolimus
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 0 participants
- Where
- 1 siteUnited States
- Study dates
- Apr 2014to Apr 2016
- Phase
- Phase 2
- 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 2 to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 2-18 years of age, male and female.
- Subject weights greater than or equal to 6 kg at study entry.
- Subjects clinically diagnosed with SWS, inclusive of cerebral and dermatologic involvement. Ophthalmic involvement will be monitored if present, but is not necessary for enrollment.
- History of epilepsy with a history of at least 4 seizures in the month prior to screening.
- Medically refractory epilepsy defined as failure of two or more approved antiepileptic therapies.
- Females of child-bearing potential must use highly effective contraception during the study and for 8 weeks after stopping treatment.
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- Sexually active males must use a condom during intercourse while taking study drug, and for 8 weeks after stopping study treatment.
- Adequate bone marrow function.
- Adequate liver function.
- Adequate renal function.
- Acceptable fasting serum cholesterol and fasting triglycerides levels.
Who cannot join
- Patients currently receiving anticancer therapies or who have received anticancer therapies within 4 weeks of the start of Everolimus (including chemotherapy, radiation therapy, antibody based therapy, etc.).
- Known intolerance or hypersensitivity to Everolimus or other rapamycin analogs.
- Known impairment of gastrointestinal (GI) function or GI disease that may significantly alter the absorption of oral Everolimus.
- Uncontrolled diabetes mellitus despite adequate therapy.
- Patients who have any severe and/or uncontrolled medical conditions.
- Chronic treatment with corticosteroids or other immunosuppressive agents. Topical or inhaled corticosteroids are allowed.
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- Known history of HIV seropositivity.
- Patients who have received live attenuated vaccines within 1 week of start of Everolimus and during the study.
- Patients who have a history of another primary malignancy, with the exceptions of: non-melanoma skin cancer, and carcinoma in situ of the cervix, uteri, or breast from which the patient has been disease free for ≥3 years.
- Patients with a history of non-compliance to medical regimens or who are considered potentially unreliable or will not be able to complete the entire study.
- Patients who are currently part of or have participated in any clinical investigation with an investigational drug within 1 month prior to dosing.
- Pregnant or nursing (lactating) women.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: An Open-Label Controlled Study of Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome
Sturge Weber Syndrome (SWS) is a rare disease that affects the patient's brain and causes benign (non-cancerous) tumors to grow in the brain. One of the symptoms of SWS is epilepsy. People with epilepsy have seizures. Some patients may also have eye problems and a red mark on their facial skin.
This study is being done to find out if the study drug, everolimus, is safe and has helpful effects in patients with SWS who have seizures and are not responding to their current anti-epileptic medication.
The study drug, everolimus (Afinitor®), is supplied by Novartis Pharmaceuticals Corporation.
Read the detailed description
The main study part has 3 phases. The first phase is called the baseline phase and consists of 1-2 study site visit(s). During this phase, the investigators will gather information about the subject, his/her medical history, and current health.
During the second phase of the study, the subject will start taking the study drug. It will take approximately 4 weeks to find out the right amount of study drug the subject should be taking. This process is called the titration phase. There will be 2 visits during the titration phase.
Once the subject are on the right amount of study drug, he/she will take that dose for about 12 weeks. This phase is called the maintenance phase and consists of 3 study site visits.
At the end of the maintenance phase, if the study doctor determines that taking everolimus has helped to reduce the number of seizures the subject has, he/she will have the choice to continue taking the study drug for an extended time. There will be 4 total study site visits during the extension phase.
Study assessments:
- Medical History: A detailed medical history will be given and the subject's medical record will be reviewed by the study team to verify inclusion and exclusion criteria.
- Vital Signs: Weight, height, blood pressure, pulse rate, and body temperature, will be recorded.
- Physical Exam: A standard physical examination will be performed at baseline, week 4, 16, and month 6 and 12 of extension visits.
- Neurological Exam: A standard neurological examination will be performed at baseline, week 4, 16, and month 6 and 12 of extension visits.
- Dermatological Exam: A skin examination will be performed to assess the presence and characteristics of Port-wine stain birthmarks.
- Ophthalmologic Exam: An eye examination will be performed to evaluate for the presence of glaucoma. Visual acuity, tonometry, and visual fields will be assessed.
- Safety Laboratory Assessments: Safety laboratory assessments will be performed at baseline, week 4, week 8, week 16, and every 3 months thereafter in the extension phase of the study.
- Pregnancy testing: For females of child-bearing potential, serum pregnancy will be performed at screening and at every visit where safety laboratory assessments are being done.
- Antiepileptic Drug (AED) Concentrations: AED levels specific to each subject will be performed at baseline, week 2, week 4, week 8, week 16, and every 3 months thereafter in the extension phase of the study. This test is done to determine the blood level of other anti-epileptic drugs the participant may be taking.
- Everolimus Concentrations: Everolimus levels will be performed after the start of study medication at week 2, week 4, week 8, week 16, and every 3 months thereafter in the extension phase of the study. This test is done to determine the dose level of the study drug that will be given at each visit.
- Conditions
- Sturge Weber Syndrome
- Being tested
- Everolimus
- Keywords
- Everolimus, Epilepsy, Sturge Weber Syndrome, Port wine stain, Glaucoma
- Medical subject headings
- Sturge-Weber Syndrome, Epilepsy, Port-Wine Stain, Glaucoma
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
EverolimusDrug
Also called Afinitor, RAD001
Afinitor tablets will be administered at a starting dosage of 5 mg/ m2/ day, dosed once per day in the morning. To achieve appropriate doses for all subjects 2mg, 3mg, 5mg of everolimus Disperz tablets will be used. Subjects will take one or more of these tablets in combination to achieve the required dose. Dosages will be rounded to the nearest 2 mg when calculating doses for individual subjects.
| Study group | Role | What they receive |
|---|---|---|
| Everolimus | Experimental | Afinitor tablets will be administered at a starting dosage of 5 mg/ m2/ day, dosed once per day in the morning. To achieve appropriate doses for all subjects 2mg, 3mg, 5mg of everolimus Disperz tablets will be used. Subjects will take one or more of these tablets in combination to achieve the required dose. Dosages will be rounded to the nearest 2 mg when calculating doses for individual subjects. Receives: Drug: Everolimus |
What is being measured
The primary outcome is the main question the study is designed to answer.
Evaluate the clinical effectiveness of Everolimus as an adjunct treatment to reduce the seizure activity
The primary efficacy parameter will be the percentage of subjects classified as responders (greater than 50% reduction in seizure frequency during the maintenance phase as compared to the baseline phase) or near-responders (25-50% reduction in seizure frequency during the maintenance phase as compared to the baseline phase), as reported by caregivers via seizure diaries.
Measured: 2 years
Secondary outcomes (2)
Clinical progression of facial and/or body port-wine hemangioma
Presence and progression (location and size) of the facial and/or body port-wine hemangioma assessed during dermatological examinations. This will be done using an ordinal scale 0- None; 1-Pink and flat; 2- Red and flat; 3-Red and hypertrophied; 4- Red, hypertrophied and cobblestoning
Measured: 2 years
Clinical progression of glaucoma
Presence and progression of glaucoma will be monitored through intraocular pressure assessment done at ophthalmologic exams.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Nov 2013 (estimated)
- Study startApr 2014
- Primary completionApr 2016
- Study completionApr 2016
Why it stopped: Site did not want to pursue study
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Sturge Weber SyndromeStudies of the same condition, open and under way.
- More trials run by Baylor College of MedicineThe sponsor's other registered studies.
- 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 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- Baylor College of Medicine
- Sponsor type
- University, hospital or other
- Collaborators
- Novartis Pharmaceuticals
- Responsible party
- Principal investigator, Angus Wilfong, Baylor College of Medicine
- Investigators
- Angus A Wilfong, MD, Principal investigator, Baylor College of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01997255
- Sponsor's protocol ID
- H-33251
- Other IDs
- CRAD001MUS214T
- Status last verified
- Dec 2015
- First submitted
- 15 Nov 2013
- Last updated
- 5 May 2016
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 5 May 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open-Label Controlled Study of Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome
- ClinicalTrials.gov ID
- NCT01997255
- Acronym / sponsor ID
- H-33251
- Conditions
- Sturge Weber Syndrome
- Keywords
- Everolimus, Epilepsy, Sturge Weber Syndrome, Port wine stain, Glaucoma
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- WithdrawnReason stopped: Site did not want to pursue study
- Enrolment
- 0 participants (actual)
- Lead sponsor
- Baylor College of MedicineUniversity, hospital or other
- Collaborators
- Novartis Pharmaceuticals
- Study start
- Apr 2014
- Primary completion
- Apr 2016 (actual)
- Study completion
- Apr 2016 (actual)
- First posted
- 28 Nov 2013 (estimated)
- 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.
Sturge Weber Syndrome (SWS) is a rare disease that affects the patient's brain and causes benign (non-cancerous) tumors to grow in the brain. One of the symptoms of SWS is epilepsy. People with epilepsy have seizures. Some patients may also have eye problems and a red mark on their facial skin.
This study is being done to find out if the study drug, everolimus, is safe and has helpful effects in patients with SWS who have seizures and are not responding to their current anti-epileptic medication.
The study drug, everolimus (Afinitor®), is supplied by Novartis Pharmaceuticals Corporation.
Detailed description
The main study part has 3 phases. The first phase is called the baseline phase and consists of 1-2 study site visit(s). During this phase, the investigators will gather information about the subject, his/her medical history, and current health.
During the second phase of the study, the subject will start taking the study drug. It will take approximately 4 weeks to find out the right amount of study drug the subject should be taking. This process is called the titration phase. There will be 2 visits during the titration phase.
Once the subject are on the right amount of study drug, he/she will take that dose for about 12 weeks. This phase is called the maintenance phase and consists of 3 study site visits.
At the end of the maintenance phase, if the study doctor determines that taking everolimus has helped to reduce the number of seizures the subject has, he/she will have the choice to continue taking the study drug for an extended time. There will be 4 total study site visits during the extension phase.
Study assessments:
- Medical History: A detailed medical history will be given and the subject's medical record will be reviewed by the study team to verify inclusion and exclusion criteria.
- Vital Signs: Weight, height, blood pressure, pulse rate, and body temperature, will be recorded.
- Physical Exam: A standard physical examination will be performed at baseline, week 4, 16, and month 6 and 12 of extension visits.
- Neurological Exam: A standard neurological examination will be performed at baseline, week 4, 16, and month 6 and 12 of extension visits.
- Dermatological Exam: A skin examination will be performed to assess the presence and characteristics of Port-wine stain birthmarks.
- Ophthalmologic Exam: An eye examination will be performed to evaluate for the presence of glaucoma. Visual acuity, tonometry, and visual fields will be assessed.
- Safety Laboratory Assessments: Safety laboratory assessments will be performed at baseline, week 4, week 8, week 16, and every 3 months thereafter in the extension phase of the study.
- Pregnancy testing: For females of child-bearing potential, serum pregnancy will be performed at screening and at every visit where safety laboratory assessments are being done.
- Antiepileptic Drug (AED) Concentrations: AED levels specific to each subject will be performed at baseline, week 2, week 4, week 8, week 16, and every 3 months thereafter in the extension phase of the study. This test is done to determine the blood level of other anti-epileptic drugs the participant may be taking.
- Everolimus Concentrations: Everolimus levels will be performed after the start of study medication at week 2, week 4, week 8, week 16, and every 3 months thereafter in the extension phase of the study. This test is done to determine the dose level of the study drug that will be given at each visit.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Everolimus | Experimental | Drug: EverolimusAfinitor tablets will be administered at a starting dosage of 5 mg/ m2/ day, dosed once per day in the morning. To achieve appropriate doses for all subjects 2mg, 3mg, 5mg of everolimus Disperz tablets will be used. Subjects will take one or more of these tablets in combination to achieve the required dose. Dosages will be rounded to the nearest 2 mg when calculating doses for individual subjects. |
Who may qualify
- Ages
- 2 to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (11 listed)
- 2-18 years of age, male and female.
- Subject weights greater than or equal to 6 kg at study entry.
- Subjects clinically diagnosed with SWS, inclusive of cerebral and dermatologic involvement. Ophthalmic involvement will be monitored if present, but is not necessary for enrollment.
- History of epilepsy with a history of at least 4 seizures in the month prior to screening.
- Medically refractory epilepsy defined as failure of two or more approved antiepileptic therapies.
Key exclusion criteria (12 listed)
- Patients currently receiving anticancer therapies or who have received anticancer therapies within 4 weeks of the start of Everolimus (including chemotherapy, radiation therapy, antibody based therapy, etc.).
- Known intolerance or hypersensitivity to Everolimus or other rapamycin analogs.
- Known impairment of gastrointestinal (GI) function or GI disease that may significantly alter the absorption of oral Everolimus.
- Uncontrolled diabetes mellitus despite adequate therapy.
- Patients who have any severe and/or uncontrolled medical conditions.
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 |
|---|---|---|
| EverolimusAlso: Afinitor, RAD001Afinitor tablets will be administered at a starting dosage of 5 mg/ m2/ day, dosed once per day in the morning. To achieve appropriate doses for all subjects 2mg, 3mg, 5mg of everolimus Disperz tablets will be used. Subjects will take one or more of these tablets in combination to achieve the required dose. Dosages will be rounded to the nearest 2 mg when calculating doses for individual subjects. | Drug | Everolimus |
Primary outcome
Evaluate the clinical effectiveness of Everolimus as an adjunct treatment to reduce the seizure activity
Time frame: 2 years
The primary efficacy parameter will be the percentage of subjects classified as responders (greater than 50% reduction in seizure frequency during the maintenance phase as compared to the baseline phase) or near-responders (25-50% reduction in seizure frequency during the maintenance phase as compared to the baseline phase), as reported by caregivers via seizure diaries.
2 secondary outcomes
Clinical progression of facial and/or body port-wine hemangioma
Time frame: 2 years
Clinical progression of glaucoma
Time frame: 2 years
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 May 2016.
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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.
Angus A Wilfong, MD principal investigator
Baylor College of Medicine
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Everolimus in people with Sturge Weber Syndrome, run by Baylor College of Medicine at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 12 exclusion criteria. 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: withdrawn, as of the sponsor's last update on 5 May 2016. 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 United States. 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.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study was withdrawn before enrolling participants, so there are no results.
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?
Evaluate the clinical effectiveness of Everolimus as an adjunct treatment to reduce the seizure activity (time frame: 2 years). 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 5 May 2016.