New Hope for Management of Tuberous Sclerosis. Anil Kapoor, MD, FRCSC Professor of Surgery (Urology), McMaster University Hamilton, Ontario

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1 New Hope for Management of Tuberous Sclerosis Anil Kapoor, MD, FRCSC Professor of Surgery (Urology), McMaster University Hamilton, Ontario

2 Tuberous Sclerosis Complex (TSC) Incidence 1:6000 Genetic disorder Mutations in genes TSC1 and TSC2 Affects 1-2 million people worldwide Approximately 5,000 in Canada Multi-organ benign tumours throughout the body Franz DN, et al. Neuropediatrics 2010;41:

3 The Role of the mtor Pathway in TSC Loss of TSC1/TSC2 in the mtor pathway defines TSC The tuberous sclerosis complex (TSC1/TSC2) are tumor suppressor proteins Inactivation of TSC1 or TSC2 leads to increased mtor activity Crino PB et al. N Engl J Med. 2006;355: ; Paul E et al. N Engl J Med. 2008;358: MDL037E

4 TSC Affects Multiple Organ Systems Neurologic Epilepsy / infantile spasms Brain tumours Cortical tubers SENs SEGA Renal Angiomyolipomas Cysts Cardiopulmonary Cardiac rhabdomyomas Lymphangioleiomyomatosis (LAM) Skin Facial angiofibromas Ash leaf spots Shagreen patches Ungual fibromas Ocular Retinal lesions Developmental/ Behavioral Problems Cognitive dysfunctional Autism spectrum disorder ADHD Anxiety SENs: subependymal nodules; SEGA: subependymal giant-cell astrocytoma; ADHD: Attention-deficit hyperactivity disorder Crino PB, et al. N Engl J Med 2006;355: ; Leung AK, et al. J Pediatr Health Care. 2007;21:

5 TSC Affects Multiple Organ Systems 1,2 Neurologic Epilepsy 90% Infantile seizures 20-30% Brain tumors - Cortical tubers 90 % - SENs 95% - SEGAs 6-19% Collections of dysmorphic neurons, large astrocytes, and giant cells 1,2 Epilepsy occurs in over 90% of patients and is associated with the presence of cortical tubers 2 SEN, subependymal nodule; SEGA: subependymal giant cell astrocytoma 1. Crino. N Engl J Med 2006;355: ; 2. Curatolo. Eur J Paediatr Neurol. 2002;6: MDL037E

6 TSC Affects Multiple Organ Systems 1,2 Neurologic Epilepsy 90% Infantile seizures 20-30% Brain tumors - Cortical tubers 90 % - SENs 95% - SEGAs 6-19% Numerous SENs distributed on the wall of the lateral ventricles SEGA, subependymal giant-cell astrocytoma; SEN, subependymal nodule Benign tumors, develop along ependymal lining of the lateral ventricles of the brain, proximal to the foramen of Monro 1,3 SENs usually remain dormant and do not cause symptoms Some SENs may increase in size to become SEGAs 1.Crino. N Engl J Med 2006;355: ; 2. Curatolo. Eur J Paediatr Neurol. 2002;6:15-23; 3.Yates, et al. Eur J Hum Genet 2006;14: MDL037E

7 TSC Affects Multiple Organ Systems 1,2 Neurologic Epilepsy 90% Infantile seizures 20-30% Brain tumors - Cortical tubers 90 % - SENs 95% - SEGAs 6-19% A large SEGA along the midline of the brain near the foramen of Monro SEGA, subependymal giant-cell astrocytoma; SEN, subependymal nodule SEGAs are well circumscribed, slowgrowing, low-grade tumors 3 Can obstruct the CSF circulation, leading to hydrocephalus Current intervention options: Surgical resection, if feasible Shunt implantation 1. Crino. N Engl J Med 2006;355: ; 2. Leung. J Pediatr Health Care. 2007; 21: ; 3. Buccoliero, et al. Neuropathology 2009;29: MDL037E

8 TSC Affects Multiple Organ Systems 1,2 Angiomyolipoma Slow growing, bilateral kidney tumors Complications due to mass effect: hemorrage or rupture of blood vessels feeding the lestion, destruction of adjacent renal tissue, risk of hypertension/renal failure Renal Angiomyolipomas (AML) 55-75% 1. Crino. N Engl J Med 2006;355: ; 2. Leung. J Pediatr Health Care. 2007; 21: MDL037E

9 TSC Affects Multiple Organ Systems 1,2 Cardiac rhabdomyoma Present in 50-70% infants with TSC Usually detected in utero or during the first year of life Often regresses/disappears later in life Although benign, position within critical areas in the heart may lead to lethal arrhythmias and heart failure Renal Angiomyolipomas 55-75% Cardiopulmonary Cardiac rhabdomyomas 33-48% 1. Crino. N Engl J Med 2006;355: ; 2. Leung. J Pediatr Health Care. 2007; 21: MDL037E

10 TSC Affects Multiple Organ Systems 1,2 LAM Progressive lung disease Occurs in 30-40% of women with TSC Infiltration of LAM smooth muscle cells and cystic destruction of the lung Renal Angiomyolipomas 55-75% Cardiopulmonary Cardiac rhabdomyomas 33-48% Lymphangioleiomyomatosis 26-39% Ocular Retinal lesions 40-50% 1. Crino. N Engl J Med 2006;355: ; 2. Leung. J Pediatr Health Care. 2007; 21: MDL037E

11 TSC Affects Multiple Organ Systems 1,2 Skin Facial angiofibromas Ash leaf spots Shagreen patches Ungual fibromas Developmental/ Behavioral Problems Cognitive dysfunction Autism spectrum disorder ADHD Anxiety ADHD, Attention Deficit Hyperactivity Disorder 1. Crino. N Engl J Med 2006;355: ; 2. Leung. J Pediatr Health Care. 2007; 21: MDL037E

12 Other Effects of TSC Ocular Retinal lesions: 40-50% Developmental/ Behavioral Problems Cognitive dysfunction Autism spectrum disorder ADHD Anxiety Crino PB, et al. N Engl J Med 2006;355: ; Leung AK, et al. J Pediatr Health Care 2007;21:

13 A Patient s Journey with TSC Prenatal < 1 year 1 5 yrs 5 18 yrs > 18 yrs Geneticists OB/GYN Cardiologist Neurologist Dermatologist Opthamologist Nephrologist/ Urologist Pulmonologist Rhabdomyomas Cortical tubers Subependymal nodules (SENs) Subependymal giant cell astrocytomas (SEGAs) Dermatologic manifestation Angiomyolipomas Retinal hamartomas LAM: lymphangioleiomyomatosis LAM Franz, et al. J Child Neurol 2004;19:690-8.; Isaacs. Am J Perinatol 2009;26:755-60; Park, et al. Acta Neuropathol 1997;94:180-6; Adriaensen, et al. Eur J Neurol 2009;16:691-6; Sweeney, et al. Adv Dermatol 2004;20:117-35; Roach, et al. J Child Neurol 2004;19:643-9; Sparagana, et al. Curr Opin Neurol 2000;13:

14 2012 Clinical Diagnostic Criteria for TSC Major features 1 Northrup H, et al. Pediatr Neurol 2013;49: Hypomelanotic macules ( 3, at least 5 mm in diameter) Minor features 1 Confetti skin lesions 2 Angiofibromas ( 3) or fibrous cephalic plaque 2 Dental enamel pits ( 3) 3 Ungual fibromas ( 2) 3 Intraoral fibromas ( 2) 4 Shagreen patch 4 Retinal achromic patch 5 Multiple retinal hamartomas 5 Multiple renal cysts 6 Cortical dysplasias* 6 Nonrenal hamartomas 7 Subependymal nodules 8 Subependymal giant cell astrocytomas 9 Cardiac rhabdomyoma 10 Lymphangioleiomyomatosis (LAM)** 11 Angiomyolipomas ( 2)** * Includes tubers and cerebral white matter radial migration lines. **A combination of the two major features LAM and angiomyolipomas without other features does not meet criteria for a definite diagnosis Definite Diagnosis 2 major features or 1 major feature + 2 minor features Possible Diagnosis 1 major feature or 2 minor features 14

15 2012 Genetic Diagnostic Criteria for TSC Either a TSC1 or TSC2 pathogenic mutation is sufficient for a definite diagnosis of TSC. A pathogenic mutation is a: mutation that clearly inactivates the function of TSC1 or TSC2 protein (e.g., out-of-frame indel or nonsense mutation) mutation that prevents protein synthesis (e.g., large genomic deletion) missense mutation whose effect on protein function has been established by functional assessment Other TSC1 or TSC2 variants whose effect on function is less certain do not meet these criteria, and are not sufficient to make a definite diagnosis of TSC. Genetics-based diagnosis even in the absence of clinical signs would facilitate appropriate monitoring of the genetically diagnosed individual throughout his/her lifetime It is noteworthy that 10-25% of individuals with TSC have no mutation identified by conventional genetic testing, and a normal result does not exclude TSC or have any effect on the use of Clinical Diagnostic Criteria to diagnose TSC Northrup H, et al. Pediatr Neurol 2013;49:

16 Diagnostic Recommendations Newly Diagnosed or Suspected TSC Genetics: Genetic testing when TSC diagnosis cannot be confirmed clinically Brain: Brain MRI to assess presence of tubers, SEN, migrational defects, SEGA Evaluate TSC-associated neurocognitive and behavioral disorder (TAND) During infancy, educate patients to recognize infantile spasms Baseline routine EEG: if abnormal, follow up with 24-hour video EEG Heart: Fetal ECG, when rhabdomyomas are identified via prenatal ultrasound Pediatric patients: obtain ECG, especially if <3 years All ages: obtain ECG to assess underlying conduction defects Kidney: MRI of abdomen, Screen for hypertension, Evaluate renal function by determination of GFR Lung: Females >18 yrs: Baseline pulmonary function tests; HRCT, even if asymptomatic Adult males: Undergo testing if symptomatic Skin/Teeth/Eye: Perform complete and detailed exams 14MDL099E

17 2012 TSC Surveillance Recommendations Already Diagnosed with Definite or Possible TSC CNS/Brain Brain MRI,1-3 years in asymptomatic patients <25 years Screen for TAND symptoms at least annually MRI: magnetic resonance EEG with known/suspected seizure activity, as clinically needed imaging; TAND: TSC-associated Eyes and Teeth neuropsychiatric disorders; Ophthalmology examination: annual EEG: electroencephalograph; Detailed dental examination: every 6 months HR-CT: high-resolution computed tomography; Panoramic radiographs of teeth if 7 years PFTs: pulmonary function tests Lung Every visit: clinical screening for symptoms No lung cysts: HR-CT every 5-10 years Lung cysts: HR-CT every 2-3 years, annual PFTs Krueger DA, et al. Pediatr Neurol 2013;49:

18 2012 TSC Surveillance Recommendations (cont d) Already Diagnosed with Definite or Possible TSC Heart Pediatric: Echocardiogram every 1-3 years if asymptomatic, more frequent/advanced assessment if symptomatic All ages: ECG every 3-5 years if asymptomatic, more frequent/advanced assessment if symptomatic ECG: electrocardiogram; MRI: magnetic resonance imaging; BP: blood pressure; GFR: glomerular filtration rate Kidney Skin MRI of abdomen every 1-3 years Attention to vascularity and presence of aneurysm BP and renal function (including GFR) at least annually Detailed dermatological exam (annual) Krueger DA, et al. Pediatr Neurol 2013;49:

19 MRI, CT or Ultrasound for Angiomyolipoma Screening? Typical fat-containing angiomyolipomas: are hyperechogenic on ultrasound; have low attenuation values on CT; appear as bright T1-weighted images, dark on T2-weighted images with fat saturation, and intermediate on T2-weighted images. MRI is modality of choice for detection of kidney and liver angiomyolipomas in TSC Rationale: CT or ultrasound may sometimes miss fat-poor angiomyolipomas; also CT associated with radiation exposure and nephrotoxicity If MRI is not readily available, CT or U/S can be used in the interim before MRI 19

20 Management of Angiomyolipomas in TSC First-line therapy: mtor inhibitor for asymptomatic, growing angiomyolipoma > 3 cm Embolization followed by corticosteroids for hemorrhage Nephrectomy to be avoided Second-line therapy: Selective embolization or kidney-sparing resection Krueger DA, et al. Pediatr Neurol 2013;49: Remember Surveillance: MRI of abdomen every 1-3 years Attention to vascularity and presence of aneurysm BP and renal function (including GFR) at least annually 20

21 Angiomyolipomas May be TSC-Associated or Sporadic Angiomyolipomas that occur in patients with no other clinical features of TSC are called sporadic Account for 80% of all angiomyolipomas Usually solitary and occur almost exclusively in women in their 40s Angiomyolipomas may be associated with retroperitoneal bleeding and impingement of the kidneys and other vital organs, impairing their function Blute ML, et al. J Urol 1988;139:20-24; Nelson CP, et al. J Urol 2002;168: El-Hashemite N, et al. Lancet 2003;361:1348-9; Smolarek TA, et al. Am J Hum Genet 1998;62:810-5; Avila NA, et al. Radiology 2007;242:

22 Characteristics of TSC-Associated vs. Sporadic Angiomyolipomas TSC-associated Angiomyolipoma Sporadic Angiomyolipoma P-value (Chi-square test) Mean age (years) Tumour diameter (cm) % multiple tumours < % at presentation: Symptomatic Acute hemorrhage < Nelson CP, et al. J Urol 2002;168:

23 RANDOMISATION (2:1) EXIST-2: Phase 3, Multicenter, Placebo-Controlled Study in Angiomyolipoma (NCT ) Eligibility Criteria (N=118) Age 18 yrs TSC (per modified Gomez criteria) or sporadic LAM (biopsy-proven or compatible chest CT scan) 1 AML lesion 3 cm in longest diameter using CT/MRI No requirement for AMLrelated surgery No AML-related bleeding or embolization in last 6 months Oral everolimus 10 mg once daily b (n=79) Crossover allowed at AML progression c Placebo b (n=39) Treatment until AML progression or unacceptable toxicity Stratified by (i) TSC and EIAED use versus (ii) TSC and no EIAED versus (iii) sporadic LAM ClinicalTrials.gov identifier NCT EIAED = enzyme inducing antiepileptic drug. Accrual between 08-May-2009 and 30-Dec a One patient was later found to not have renal AML b Dose adjusted based on toxicity. c AML progression by central review or occurrence of AE of AML-related bleeding grade 2 or worse Bissler JJ et al. Lancet 2013; 381: ; Bissler JJ. Pharmacokinetics/Pharmacodynamics of Everolimus in Patients With Renal Angiomyolipoma Associated With Tuberous Sclerosis Complex or Sporadic Lymphangioleiomyomatosis. Presented at: International TSC Conference; September 6-9, 2012; Naples, Italy; Franz DN. The Effect of Everolimus, an Oral mtor Inhibitor, on Angiogenic Biomarkers in Patients With Tuberous Sclerosis Complex. Presented at: International TSC Conference; September 6-9, 2012; 13SOL017E Naples, Italy Jozwiak S. The Effect of Everolimus Therapy on Skin Lesions in Patients With Tuberous Sclerosis Complex: Results From the EXIST-1 and EXIST-2 Trials. Presented at: International TSC Conference; September 6-9, 2012; Naples, Italy.

24 EXIST-2: Baseline Demographics Everolimus n = 79 Placebo n = 39 Age, yrs, median (range) 32.0 ( ) 29.0 ( ) Age category, yrs, n (%) <30 35 (44.3) 20 (51.3) (55.7) 19 (48.7) Gender, n (%) Male 27 (34.2) 13 (33.3) Female 52 (65.8) 26 (66.7) Race, n (%) Caucasian 71 (89.9) 34 (87.2) Asian 7 (8.9) 4 (10.3) Other 1 (1.3) 1 (2.6) EXIST-2; NCT Bissler JJ et al. Lancet 2013; 381: Kingswood et al. International TSC Research Conference SOL017E

25 EXIST-2: Baseline Disease Characteristics Characteristic, n (%) Everolimus n = 79 Placebo n = 39 Diagnosis of TSC a 77 (97.5) 36 (92.3) Diagnosis of Sporadic LAM 2 (2.5) 3 (7.7) Diagnosis of LAM 22 (27.8) 7 (17.9) 1 skin lesion b, % 77 (97.5) 37 (94.9) Presence of SEGA c, % 43 (54.4) 14 (35.9) Previous AML treatment, % Surgery/invasive procedure 31 (39.2) 15 (38.5) Renal embolization 19 (24.1) 9 (23.1) Medication 0 0 EIAED = enzyme inducing antiepileptic drug. a All patients diagnosed with TSC had 2 major features of TSC present. b Based on patients having skin lesion photos at baseline, not based on the modified Gomez criteria. c Based on the major feature of SEGA in the modified Gomez criteria being ticked yes. EXIST-2; NCT Bissler JJ et al. Lancet 2013; 381: Kingswood et al. International TSC Research Conference SOL017E

26 EXIST-2: AML Response Rate Response, n (%) Primary analysis AML response rate a [95% CI] Everolimus n = (41.8) [30.8, 53.4] P-value b < Difference % (95% CI) 41.8 (23.5, 58.4) Best overall AML response Placebo n = 39 0 [0.0, 9.0] Response 33 (41.8) 0 Stable disease 32 (40.5) 31 (79.5) Progression 1 (1.3) 2 (5.1) Not evaluable 13 (16.5) 6 (15.4) 90 day update: At data cut-off date Oct 14, 2011, the angiomyolipoma response rate was 45.6% (95% CI, 34.3%-57.2%) for the everolimus arm and 0% (95% CI, 0.0%-9.0%) for the placebo arm, which translates to a clinically significant difference of 45.6% (95% CI, 27.5%-61.8%). a By central review; b P-value is obtained from the one sided exact Cochran-Mantel Haenszel test, stratified by the modified stratification factor (use of EIAED vs. non-use of EIAED) EXIST-2; NCT Bissler JJ et al. Lancet 2013; 381: Bissler JJ et al International Research Conference on TSC and Related Disorders: Molecules to Medicines; June 20-23, 2013; Washington DC, USA 13SOL017E

27 EXIST-2: AML Target Lesion Response Over Time Efficacy 42% showed 50% in AML volume (sum of all target lesions) vs 0% in placebo at 12 weeks 80% showed 30% in primary tumor size at 24 weeks 55% showed 50% in primary tumor size at 24 weeks No patient required embolization or surgery Placebo* Everolimus Placebo* Everolimus 13SOL017E

28 EXIST-2 Adverse Events by Preferred Term and Year of Emergence (>10% of Patients) a Everolimus Adverse Event, n (%) 12 Months n = Months n = Months n = Months n = 18 Stomatitis 46 (41.1) 9 ( 8.9) 2 ( 2.6) 0 (0.0) Nasopharyngitis 36 (32.1) 19 (18.8) 14 (18.2) 5 (27.8) Acne 28 (25.0) 8 ( 7.9) 3 ( 3.9) 0 (0.0) Headache 26 (23.2) 11 (10.9) 3 ( 3.9) 0 (0.0) Hypercholesterolemia 25 (22.3) 9 ( 8.9) 6 ( 7.8) 3 (16.7) Aphthous stomatitis 21 (18.8) 14 (13.9) 6 ( 7.8) 1 ( 5.6) Fatigue 19 (17.0) 2 ( 2.0) 2 ( 2.6) 0 (0.0) Cough 18 (16.1) 4 ( 4.0) 4 ( 5.2) 0 (0.0) Diarrhea 17 (15.2) 6 ( 5.9) 3 ( 3.9) 0 (0.0) Nausea 17 (15.2) 5 ( 5.0) 0 (0.0) 2 (11.1) Mouth ulceration 17 (15.2) 3 ( 3.0) 2 ( 2.6) 0 (0.0) Urinary tract infection 16 (14.3) 14 (13.9) 6 ( 7.8) 1 ( 5.6) Vomiting 15 (13.4) 7 ( 6.9) 1 ( 1.3) 1 ( 5.6) Hypertension 14 (12.5) 3 ( 3.0) 3 ( 3.9) 1 ( 5.6) Edema peripheral 12 (10.7) 8 ( 7.9) 4 ( 5.2) 0 (0.0) Amenorrhea 12 (10.7) 7 ( 6.9) 3 ( 3.9) 0 (0.0) Leukopenia 12 (10.7) 6 ( 5.9) 0 (0.0) 0 (0.0) Back pain 12 (10.7) 5 ( 5.0) 2 ( 2.6) 1 ( 5.6) Blood lactate dehydrogenase increased 12 (10.7) 2 ( 2.0) 1 ( 1.3) 0 (0.0) Hypophosphatemia 11 ( 9.8) 5 ( 5.0) 4 ( 5.2) 2 (11.1) 28

29 EXIST-2: Selected Adverse Events Infections (everolimus, 64.6%; placebo, 71.8%) Primarily upper respiratory infections (e.g., nasopharyngitis, upper respiratory tract infection) No cases of grade 4 infections were observed No Menstruation (everolimus, 13.5% [2 grade 3]); placebo, 3.8%) Duration ranged from 1 to 66 weeks, with no treatment modification in any cases 3 cases are ongoing in the everolimus arm; 4 resolved without intervention Renal events (everolimus, 5.1%; placebo, 15.4%) Included cases of grade 1-2 proteinuria, acute renal failure, and elevated creatinine There were 2 cases of grade 2 acute renal failure in the everolimus arm; both of these events resolved No patients with renal events had a prior nephrectomy EXIST-2; NCT Kingswood et al. International TSC Research Conference 2011 Bissler JJ et al. Lancet 2013; 381: SOL017E

30 Initiation of mtor Inhibitor Therapy in TSC-Associated Angiomyolipomas Use of mtor inhibitor therapy requires assessment of tolerance and side effect profile Follow-up of angiomyolipomas with MRI is required to assess response to therapy Consider referral to physician experienced with mtor inhibitor therapy Urologist Nephrologist (for renal angiomyolipoma) Neurologist (for SEGA) Oncologist 30

31 Surgery Should Not be Considered A First-Line Option Renal Embolization for TSC-associated Angiomyolipoma: Limitations Treats single lesions and not the full spectrum of disease (multiple small lesions) Due to variability in surgical techniques, outcomes are variable, with up to 40% requiring repeat embolization 1 Associated with post-embolization syndrome or perioperative complications (up to 85%) Risk of renal impairment with any invasive intervention Success, at the expense of: Loss of kidney mass/function Post-embolization syndrome 1. Bishay VL, et al. J Vasc Interv Radiol 2010;21:

32 Surgery Should Not be Considered A First-Line Option Full or Partial Nephrectomy Limitations: Associated with surgical morbidity/mortality Loss of renal function Risk of ischemic injury associated with this procedure Removal of kidney leaves less treatment options if angiomyolipoma develop in other kidney Bilateral growing lesions lead to loss of renal parenchyma This is not addressed by either nephrectomy or embolization Need therapy that will reduce angiomyolipoma volume, which may help to prevent hemorrhage, and preserve long-term renal function 32

33 Conclusions TSC is a multi-organ disease with potential for significant renal involvement TSC guidelines for diagnosis, surveillance and management are available Renal imaging, preferably MRI, can help reduce patient risk from haemorrhage Pharmacological therapy is available that treats not only the kidney but other aspects of TSC TSC may require the management of multiple specialists 33

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