A Placebo-controlled Study of Efficacy & Safety of 2 Trough-ranges of Everolimus as Adjunctive Therapy in Patients With Tuberous Sclerosis Complex (TSC) & Refractory Partial-onset Seizures

NCT ID: NCT01713946

Last Updated: 2018-11-07

Study Results

Results available

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Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

PHASE3

Total Enrollment

366 participants

Study Classification

INTERVENTIONAL

Study Start Date

2013-04-29

Study Completion Date

2017-10-25

Brief Summary

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This study evaluated the efficacy and safety of two trough-ranges of everolimus given as adjunctive therapy in patients with tuberous sclerosis complex (TSC) who had refractory partial-onset seizures.

The study consisted of 4 phases for each patient Baseline phase:\[From Screening Week -8 (V1) to randomization visit at Week 0 (V2)\], Core phase \[from randomization at Week 0 (V2) to Week 18 (V11)\], Extension phase \[from Week 18 (V11) until 48 weeks after the last patient had completed the core phase\] and Post Extension phase \[from end of Extension phase to end of study\].

Detailed Description

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Conditions

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Tuberous Sclerosis Complex-associated Refractory Seizures

Study Design

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Allocation Method

RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

TREATMENT

Blinding Strategy

QUADRUPLE

Participants Caregivers Investigators Outcome Assessors

Study Groups

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Everolimus LT target of 3 - 7 ng/mL

Participants received everolimus dispersible tablets for oral suspension with titration to a low trough (LT) range of 3 to 7 ng/mL plus 1 to 3 antiepileptic drugs.

Group Type EXPERIMENTAL

RAD001

Intervention Type DRUG

Everolimus tablets for oral suspension (dispersible tablets) were packaged as 2 mg tablets in blister packs and placed in boxes with color-coded labels, color 1 or color 2.

Antiepileptic drug (1 to 3 only)

Intervention Type DRUG

no more than any 3 of the listed antiepileptic drugs could be taken with the study drug or placebo. List of allowed antiepileptic drugs were: valporic acid, carbamazepine, clobazam, N-desmethylclobazam, topiramate,TRI477, TRI476, clonazepam, zonisamide, phenobarbital, phenytoin

open label RAD001 (only used for post-extension phase)

Intervention Type DRUG

everolimus tablets for oral suspension (dispersible tablets) were packaged as 2 mg tablets in blister backs in boxes with open label design and were taken during the Post-Extension phase, where all the participants, including those who were previously on placebo, took the 2mg tablets.

Everolimus HT target of 9 -15 ng/mL

Participants received everolimus dispersible tablets for oral suspension with titration to a high trough (HT) range of 9 to 15 ng/mL plus 1 to 3 antiepileptic drugs.

Group Type EXPERIMENTAL

RAD001

Intervention Type DRUG

Everolimus tablets for oral suspension (dispersible tablets) were packaged as 2 mg tablets in blister packs and placed in boxes with color-coded labels, color 1 or color 2.

Antiepileptic drug (1 to 3 only)

Intervention Type DRUG

no more than any 3 of the listed antiepileptic drugs could be taken with the study drug or placebo. List of allowed antiepileptic drugs were: valporic acid, carbamazepine, clobazam, N-desmethylclobazam, topiramate,TRI477, TRI476, clonazepam, zonisamide, phenobarbital, phenytoin

open label RAD001 (only used for post-extension phase)

Intervention Type DRUG

everolimus tablets for oral suspension (dispersible tablets) were packaged as 2 mg tablets in blister backs in boxes with open label design and were taken during the Post-Extension phase, where all the participants, including those who were previously on placebo, took the 2mg tablets.

Placebo

Participants received placebo plus 1 to 3 antiepileptic drugs.

Group Type PLACEBO_COMPARATOR

Placebo

Intervention Type DRUG

Placebo tablets for oral suspension (dispersible tablets) were packaged as 2 mg tablets in blister packs and placed in boxes with color-coded labels, color 1 or color 2.

Antiepileptic drug (1 to 3 only)

Intervention Type DRUG

no more than any 3 of the listed antiepileptic drugs could be taken with the study drug or placebo. List of allowed antiepileptic drugs were: valporic acid, carbamazepine, clobazam, N-desmethylclobazam, topiramate,TRI477, TRI476, clonazepam, zonisamide, phenobarbital, phenytoin

open label RAD001 (only used for post-extension phase)

Intervention Type DRUG

everolimus tablets for oral suspension (dispersible tablets) were packaged as 2 mg tablets in blister backs in boxes with open label design and were taken during the Post-Extension phase, where all the participants, including those who were previously on placebo, took the 2mg tablets.

Interventions

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RAD001

Everolimus tablets for oral suspension (dispersible tablets) were packaged as 2 mg tablets in blister packs and placed in boxes with color-coded labels, color 1 or color 2.

Intervention Type DRUG

Placebo

Placebo tablets for oral suspension (dispersible tablets) were packaged as 2 mg tablets in blister packs and placed in boxes with color-coded labels, color 1 or color 2.

Intervention Type DRUG

Antiepileptic drug (1 to 3 only)

no more than any 3 of the listed antiepileptic drugs could be taken with the study drug or placebo. List of allowed antiepileptic drugs were: valporic acid, carbamazepine, clobazam, N-desmethylclobazam, topiramate,TRI477, TRI476, clonazepam, zonisamide, phenobarbital, phenytoin

Intervention Type DRUG

open label RAD001 (only used for post-extension phase)

everolimus tablets for oral suspension (dispersible tablets) were packaged as 2 mg tablets in blister backs in boxes with open label design and were taken during the Post-Extension phase, where all the participants, including those who were previously on placebo, took the 2mg tablets.

Intervention Type DRUG

Other Intervention Names

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everolimus open label everolimus

Eligibility Criteria

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Inclusion Criteria

* 1\. Male or female between the ages of 2 and 65 years (except in Europe where minimum age will be 1).

2\. Clinically definite diagnosis of TSC per modified Gomez criteria 3. Diagnosis of partial-onset epilepsy according to the classification of the International League Against Epilepsy (1989) and revised in 2009.

4\. Uncontrolled partial-onset seizures; must meet the following:
1. At least 16 reported quantifiable partial-onset seizures over the Baseline period with no continuous 21-day seizure-free period between Visit 1 (Screening Visit) and Visit 2 (Randomization visit), as per data captured in daily seizure diaries.
2. Prior history of failure to control partial-onset seizures despite having been treated with two or more sequential regimens of single or combined antiepileptic drugs.
3. Prior or concurrent use of vagal nerve stimulator (VNS) is allowed. If the patient is using VNS, device stimulator parameters must remain constant throughout the study.
4. Prior epilepsy surgery is allowed if performed at least 12 months before study entry.

5\. Must be receiving one, two, or three AEDs at a stable dose for at least 4 weeks at the start of the 8-week prospective Baseline phase, remain on the same regimen throughout the Baseline phase, and intend to continue the same regimen throughout the 18-week double blind Core phase (rescue medications are permitted).

6\. If female of child bearing potential, documentation of negative pregnancy test at time of informed consent and must use highly effective contraception during the study and for 8 weeks after stopping treatment 7. Sexually active males must use a condom during intercourse while taking study drug, and for 8 weeks after stopping study treatment 8. Hepatic, renal and blood laboratory values within the following range at screening :

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1. AST and ALT levels \< 2.5 x ULN
2. serum bilirubin \<1.5 × ULN (this limit does not apply to patients with an elevated indirect bilirubin, if they have Gilbert's Syndrome),
3. serum creatinine \< 1.5 x ULN
4. hemoglobin ≥ 9 g/dL
5. platelets ≥ 80,000/mm3
6. absolute neutrophil count ≥ 1,000/mm3 9. Written informed consent. Subjects or their legal guardians must have the ability to comprehend the informed consent form and be willing to provide informed consent.

10\. Patient or caregiver must be able to reliably record seizures and keep a daily diary and recall adverse events.

Exclusion Criteria

* 1\. Patients with seizures secondary to metabolic, toxic, infectious or psychogenic disorder or drug abuse or current seizures related to an acute medical illness.

2\. Presence of only non-motor partial seizures (NOT APPLICABLE per Amendment 2) 3. Patients with TSC who have SEGA in need of immediate surgical intervention. 4. Patients under 2 years of age with untreated infantile spasms. 5. Within 52 weeks prior to study entry, an episode of status epilepticus as defined in the protocol.

6\. Patients with history of seizure clusters (where individual seizures cannot be accurately counted according to the judgment of the investigator) occurring within 26 weeks prior to study entry.

7\. Patients who require rescue medication during the baseline phase for more than 6 days 8. Patients with non-TSC related progressive encephalopathy. 9. Patients who weigh less than 12 kg. 10. Patients with coexisting malignancies within the 3 years prior to randomization, except for adequately treated carcinoma of the cervix or basal or squamous cell carcinomas of the skin.

11\. Patients with any severe and/or uncontrolled medical conditions at randomization such as:
1. Symptomatic congestive heart failure of New York Heart Association Class III or IV, history of left ventricular ejection fraction (LVEF) \< 50%, QTc interval \>460ms, congenital QT syndrome, unstable angina pectoris, myocardial infarction within 6 months of study entry, serious uncontrolled cardiac arrhythmia or any other clinically significant cardiac disease.
2. Significant symptomatic deterioration of lung function
3. Impairment of gastrointestinal function or gastrointestinal disease that may significantly alter the absorption of everolimus (e.g., ulcerative disease, malabsorption syndrome or small bowel resection).
4. liver disease such as cirrhosis, decompensated liver disease, and chronic hepatitis
5. Uncontrolled diabetes as defined by fasting serum glucose \> 1.5 × ULN.
6. Active skin, mucosa, ocular or GI disorders of Grade \> 1.
7. Active (acute or chronic) or uncontrolled severe infections.
8. A known history of HIV seropositivity or other active viral infections. 12. Patients with an active, bleeding diathesis. 13. Patient with uncontrolled hyperlipidemia: fasting serum cholesterol \> 300 mg/dL OR \>7.75 mmol/L AND fasting triglycerides \> 2.5 x ULN.

14\. Patients who have had a major surgery or significant traumatic injury within 4 weeks of study entry.

15\. Patients with a prior history of organ transplant. 16. Patients receiving more than 3 antiepileptic drugs at any time in the baseline phase or at randomization or who change the dose of the AEDs during 4 weeks before screening or during the baseline period.

17\. Patients being treated with felbamate, unless treatment has been continuous for ≥ 1 year.

18\. Patients currently receiving anticancer therapies or who have received anticancer therapies within 4 weeks of study entry (including chemotherapy, radiation therapy, antibody based therapy, etc.).

19\. Prior treatment with any investigational drug within the preceding 4 weeks prior to study entry.

20\. Patients receiving chronic, systemic treatment with corticosteroids or another immunosuppressive agent at study entry. Topical or inhaled corticosteroids are allowed.

21\. Patients who have received prior treatment with a systemic mTOR inhibitor (sirolimus, temsirolimus, everolimus) within 24 months of study entry. Patients who have received prior treatment with a topical mTOR inhibitor (sirolimus, temsirolimus, everolimus) within 4 weeks of study entry.

22\. Patients with a known hypersensitivity to everolimus or other rapamycin-analogues (sirolimus, temsirolimus) or to its excipients.

23\. 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 24. Pregnant or nursing (lactating) women, where pregnancy is defined as the state of a female after conception and until the termination of gestation, confirmed by a positive hCG laboratory test.

25\. Patients with a Score of 4 or 5 on the Suicidal Ideation item within 2 years of Screening, or any "yes" on the Suicidal Behavior item of the Columbia-Suicide Severity Rating Scale at Screening or Baseline , who upon follow up with a healthcare professional are found to be severely depressed or suicidal.

26\. Maintenance of a diet consisting of \<40 g of carbohydrate per day within 3 months of screening
Minimum Eligible Age

2 Years

Maximum Eligible Age

65 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Novartis Pharmaceuticals

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Novartis Pharmaceuticals

Role: STUDY_DIRECTOR

Novartis Pharmaceuticals

Locations

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University of Alabama at Birmingham SC

Birmingham, Alabama, United States

Site Status

TGen/APNNA

Phoenix, Arizona, United States

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University of California at Los Angeles SC

Los Angeles, California, United States

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Children's Hospital Oakland SC

Oakland, California, United States

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Children's Hospital of Orange County SC

Orange, California, United States

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Rady Children's Hospital SC

San Diego, California, United States

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Children's Hospital Colorado

Aurora, Colorado, United States

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Connecticut Childrens Medical Center SC

Hartford, Connecticut, United States

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University of Chicago SC - 2

Chicago, Illinois, United States

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Kennedy Krieger Institute SC

Baltimore, Maryland, United States

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Children's Hospital Boston SC

Boston, Massachusetts, United States

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Minnesota Epilepsy Group - PA SC

Saint Paul, Minnesota, United States

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Washington University School of Medicine SC-2

St Louis, Missouri, United States

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Morristown Memorial Hospital SC-2

Morristown, New Jersey, United States

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New York University Medical Center SC-3

New York, New York, United States

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Cincinnati Children's Hospital Medical Center SC

Cincinnati, Ohio, United States

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Oregon Health and Science University SC - 3

Portland, Oregon, United States

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Children's Hospital of Philadelphia SC

Philadelphia, Pennsylvania, United States

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LeBonheur Childrens Medical Group SC

Memphis, Tennessee, United States

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Texas Scottish Rite Hospital for Children Texas Scottish

Dallas, Texas, United States

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Texas Children s Hospital SC

Houston, Texas, United States

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The University of Texas Medical School-Houston SC

Houston, Texas, United States

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Novartis Investigative Site

CABA, Buenos Aires, Argentina

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Córdoba, , Argentina

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Randwick, New South Wales, Australia

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Parkville, Victoria, Australia

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Perth, Western Australia, Australia

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Jette, Brussels Capital, Belgium

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Brussels, , Belgium

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Brussels, , Belgium

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Ghent, , Belgium

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Leuven, , Belgium

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Vancouver, British Columbia, Canada

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Montreal, Quebec, Canada

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Cali, Valle del Cauca Department, Colombia

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Bogotá, , Colombia

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Medellín, , Colombia

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Aarhus, , Denmark

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Amiens, , France

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Angers, , France

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Bron, , France

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Lille, , France

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Marseille, , France

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Strasbourg, , France

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Berlin, , Germany

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Bielefeld, , Germany

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Kehl-Kork, , Germany

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Kiel, , Germany

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Ioannina, GR, Greece

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Athens, , Greece

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Budapest, , Hungary

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Kaposvár, , Hungary

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Nyíregyháza, , Hungary

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Dublin, , Ireland

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Bari, BA, Italy

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Bologna, BO, Italy

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Catania, CT, Italy

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Genova, GE, Italy

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Milan, MI, Italy

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Pavia, PV, Italy

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Roma, RM, Italy

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Siena, SI, Italy

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Okayama, Okayama-ken, Japan

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Izumi, Osaka, Japan

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Suita, Osaka, Japan

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Shizuoka, Shizuoka, Japan

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Setagaya-ku, Tokyo, Japan

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Osaka, , Japan

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Guadalajara, Jalisco, Mexico

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Heeze, , Netherlands

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Rotterdam, , Netherlands

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Utrecht, , Netherlands

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Oslo, , Norway

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Warsaw, , Poland

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Samara, Samara Oblast, Russia

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Voronezh, Voronezh Oblast, Russia

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Moscow, , Russia

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Moscow, , Russia

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Seoul, Korea, South Korea

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Seoul, Korea, South Korea

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Seoul, Korea, South Korea

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Seoul, , South Korea

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Seville, Andalusia, Spain

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Donostia / San Sebastian, Basque Country, Spain

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Barcelona, Catalonia, Spain

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Valencia, Valencia, Spain

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Madrid, , Spain

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Tainan City, Taiwan ROC, Taiwan

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Kaohsiung City, , Taiwan

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Taipei, , Taiwan

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Bangkok, , Thailand

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Bangkok, , Thailand

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Bangkok, , Thailand

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Ankara, , Turkey (Türkiye)

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Ankara, , Turkey (Türkiye)

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Istanbul, , Turkey (Türkiye)

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Birmingham, , United Kingdom

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Buckinghamshire, , United Kingdom

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Cambridge, , United Kingdom

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Liverpool, , United Kingdom

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London, , United Kingdom

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London, , United Kingdom

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Sheffield, , United Kingdom

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York, , United Kingdom

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Countries

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United States Argentina Australia Belgium Canada Colombia Denmark France Germany Greece Hungary Ireland Italy Japan Mexico Netherlands Norway Poland Russia South Korea Spain Taiwan Thailand Turkey (Türkiye) United Kingdom

References

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Curatolo P, Franz DN, Lawson JA, Yapici Z, Ikeda H, Polster T, Nabbout R, de Vries PJ, Dlugos DJ, Fan J, Ridolfi A, Pelov D, Voi M, French JA. Adjunctive everolimus for children and adolescents with treatment-refractory seizures associated with tuberous sclerosis complex: post-hoc analysis of the phase 3 EXIST-3 trial. Lancet Child Adolesc Health. 2018 Jul;2(7):495-504. doi: 10.1016/S2352-4642(18)30099-3. Epub 2018 May 24.

Reference Type DERIVED
PMID: 30169322 (View on PubMed)

French JA, Lawson JA, Yapici Z, Ikeda H, Polster T, Nabbout R, Curatolo P, de Vries PJ, Dlugos DJ, Berkowitz N, Voi M, Peyrard S, Pelov D, Franz DN. Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study. Lancet. 2016 Oct 29;388(10056):2153-2163. doi: 10.1016/S0140-6736(16)31419-2. Epub 2016 Sep 6.

Reference Type DERIVED
PMID: 27613521 (View on PubMed)

Goyer I, Dahdah N, Major P. Use of mTOR inhibitor everolimus in three neonates for treatment of tumors associated with tuberous sclerosis complex. Pediatr Neurol. 2015 Apr;52(4):450-3. doi: 10.1016/j.pediatrneurol.2015.01.004. Epub 2015 Jan 14.

Reference Type DERIVED
PMID: 25682485 (View on PubMed)

Provided Documents

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Document Type: Study Protocol

View Document

Document Type: Statistical Analysis Plan

View Document

Other Identifiers

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2011-000860-90

Identifier Type: EUDRACT_NUMBER

Identifier Source: secondary_id

CRAD001M2304

Identifier Type: -

Identifier Source: org_study_id

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