Retrospective Chart Review Triheptanoin in FAOD patients ICIEM Presentation
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1 Retrospective Chart Review Triheptanoin in FAOD patients ICIEM Presentation Jerry Vockley, M.D., Ph.D. Professor of Pediatrics, School of Medicine Professor of Human Genetics, Graduate School of Public Health Chief of Medical Genetics Children's Hospital of Pittsburgh of UPMC
2 Conflicts of Interest Funding from: NIH and FDA on FODs Ultragenyx Pharmaceutical for Triheptanoin Hyperion for an MCAD trial Alexion Pharmaceutical BioMarin Pharmaceutical Consultant PerkinElmer Genetics
3 Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Six proteins affected Six Block proteins transport affected or β-oxidation Block Substantial in transport morbidity β-oxidation Substantial >50% mortality morbidity despite SOC >50% (Baruteaux mortality et 2012) despite SOC (Baruteaux et al 2012)
4 Treatment of LC-FAOD with Triheptanoin
5 Triheptanoin Compassionate Use Combined experience of Baylor Research Institute (Dallas) and University of Pittsburgh Resolution of hypoglycemic episodes Reduced hospitalizations Fewer/less severe episodes of rhabdomyolysis Improved cardiomyopathy
6 Cardiomyopathy in LC-FAOD Previous retrospective data, including from Barone et al resolved completely 12 patients with cardiomyopathy prior to triheptanoin 3 improved 4 with continued cardiomyopathy 1 stable
7 Retrospective Study Title: A retrospective medical record review study to assess the clinical outcome of triheptanoin treatment on patients affected by LC- FAOD Study Design: Comprehensive protocol-driven medical record review study Subjects: 20 patients consented and evaluated of 24 patients treated with triheptanoin for up to 13 years in a compassionate use protocol Site: Children s Hospital of Pittsburgh of UPMC The majority of patients transferred from Baylor Research Institute Objective: Evaluate the impact of triheptanoin on hospitalizations (events) for: Rhabdomyolysis Hypoglycemia Cardiomyopathy CK and glucose levels Methods/Analysis: Calculation of event rates prior to and after triheptanoin treatment
8 Scope and Limitations Intensive record collection and review process 1581 Case Report Forms generated 241 years of patient records 319 hospitalizations 120 individual charts Due to the nature of a retrospective chart review study, some incomplete data remains Only major events (hospitalizations) can be reliably captured Non-major events are difficult to characterize Degree of dosing compliance or metabolic control difficult to quantify with chart review
9 Baseline Disease Characterizations N = 20 CACT n=1 TFP n=2 CPT II VLCAD n=3 n=9 Pre-Treatment FAOD History Sign/Symptom N = 20 (%) of Patients Rhabdomyolysis 12 (60%) Muscle pain 11 (55%) Hypoglycemia 10 (50%) Poor feeding/weight gain 9 (45%) LCHAD n=5 Hepatomegaly 8 (40%) Hypotonia 8 (40%) Respiratory distress 8 (40%) Altered mental status/coma 7 (35%) Developmental delay 7 (35%) Muscle weakness 7 (35%)
10 Triheptanoin Treatment History Age at Start of Treatment* Duration of Treatment <1 year 1-2 years 2-5 years >5 years Total N (%) 0-1 month (Neonates) month-2 years (Infants) years (Children) years (Adolescents) >16 years (Other) Total N (%) *Dose levels varied over time and per subject. Target dose levels were initially 2-4 g/kg and later 1-2 g/kg Triheptanoin.
11 Hospitalizations/Year Decreased 30% Following Triheptanoin Treatment* 7 Number of Events Per Year VLCAD n = 7 LCHAD n = 4 CPT2 n = 3 TFP n = 2 p = Pre-Trihep Post-Trihep *Excludes data for 4 infants dosed within first 6 months of life
12 Infant Hospitalizations/Year Decreased 89% Following Triheptanoin Treatment* 25 Number of Events Per Year CACT n = 1 VLCAD n = 2 LCHAD n = 1 p = Pre-Trihep Post-Trihep *Includes 4 infants dosed within first 6 months of life
13 *Excludes data for 4 infants dosed within first 6 months of life *Excludes hospitalizations with unknown discharge dates *Excludes patients without any pre-treatment hospitalization days 70 Total Hospital Days/Year Decreased 67% Following Triheptanoin Treatment* Hospital Days Per Year VLCAD n = 7 LCHAD n = 4 CPT2 n = 1 TFP n = 2 p = Pre-Trihep Post-Trihep
14 Hypoglycemia Events/Year 3.0 Decreased 96% Following Triheptanoin Treatment* Number of Events Per Year VLCAD n = 5 LCHAD n = 2 TFP n = 1 CPT2 n = 1 p = Pre-Trihep *Includes only those patients with hypoglycemia events prior to treatment *Excludes data for 4 infants dosed within first 6 months of life Post-Trihep
15 Mean Total Hospital Days/Year Hypoglycemia 35 Events Decreased 98% Following Triheptanoin* Hospital Days Per Year VLCAD n = 5 LCHAD n = 2 TFP n = 1 CPT2 n = 1 p = Pre-Trihep Post-Trihep *Includes only those patients with hypoglycemia events prior to treatment *Excludes data for 4 infants dosed within first 6 months of life *Excludes hospitalizations with unknown discharge dates
16 Rhabdomyolysis Events/Year 6 Similar Before and After Triheptanoin Treatment* Number of Events Per Year VLCAD n = 4 LCHAD n = 3 CPT2 n = 2 TFP n = 2 p = Pre-Trihep Post-Trihep *Includes only those patients with rhabdomyolysis events prior to treatment *Excludes data for 4 infants dosed within first 6 months of life
17 Mean Total RH Hospital Days/Year 18 Decreased 60% for Rhabdomyolysis Events* Hospital Days Per Year VLCAD n = 3 LCHAD n = 3 CPT2 n = 1 TFP n = 2 p = Pre-Trihep Post-Trihep *Includes only those patients with rhabdomyolysis events prior to treatment *Excludes data for 4 infants dosed within first 6 months of life
18 Peak CK for RH Events Decreased 60% Following Triheptanoin* Peak CK Levels VLCAD n = 3 LCHAD n = 3 CPT2 n = 1 TFP n = 2 p = Pre-Trihep Post-Trihep *Includes only those patients with rhabdomyolysis events prior to treatment *Excludes data for 4 infants dosed within first 6 months of life
19 Conclusions LC-FAOD lead to frequent complications/hospitalizations Treatment with triheptanoin appears to reduce the hospitalizations and hospital days Hypoglycemic hospitalizations were nearly eliminated Rhabdomyolysis hospitalization # not changed but hospital days decreased Decrease in Event Rate Decrease in # of Hospitalization Days Total Events 30% 67% Hypoglycemia 96% 98% Rhabdomyolysis No Change 60%
20 Triheptanoin (UX007)Next Steps Continue Compassionate Use Program (Vockley) Complete the ongoing Phase 2 Orphan Product Trial (Vockley/Gillingham) Open-label Phase 2 Study to Assess Safety and Clinical Effects of UX007 in Subjects with Severe LC-FAOD (Ultragenyx) Confirmatory Phase 3 Trial (Ultragenyx)
21 Acknowledgements FAOD Patients and Families University of Pittsburgh Elizabeth McCracken, MS, CGC Stephanie DeWard, MS, CGC Jennifer Baker, MA Amanda Barone Baylor Research Institute Mary Wallace, MSRD/LD, CCRC Bonnie Walters Charles Roe, MD Ultragenyx Pharmaceutical Inc. Kristen Hsu Deborah Marsden, MD Alison Skrinar, PhD Emil Kakkis, MD, PhD
22 Thank You!
23 Back-up
24 Total Hospital Days/Year Hospital Days Per Year Decreased 69% Following Triheptanoin Treatment* mean median Pre-Trihep Post-Trihep *Excludes data for 4 infants dosed within first 6 months of life *Excludes hospitalizations with unknown discharge dates
25 Median Total Hospital Days/Year 7 Decreased 79% for Rhabdomyolysis Events Hospital Days Per Year mean median Pre-Trihep Post-Trihep *Includes only those patients with rhabdomyolysis events prior to treatment *Excludes data for 4 infants dosed within first 6 months of life *Excludes hospitalizations with unknown discharge dates
26 Severe Rhabdomyolysis Events (>5000 u/l) 6 Declined 45% Following Triheptanoin * Number of Events Per Year VLCAD n = 4 LCHAD n = 3 TFP n = 2 CPT2 n = 1 p = Pre-Trihep Post-Trihep *Includes only those patients with rhabdomyolysis events (CK >5,000 U/L) prior to treatment *Excludes data for 4 infants dosed within first 6 months of life
27 18 Total Hospital Days/Year for Severe Rhabdomyolysis Events (>5000 u/l) Decreased 67% Following Triheptanoin Treatment* 16 Hospital Days Per Year VLCAD n = 3 LCHAD n = 2 TFP n = 2 p = Pre-Trihep Post-Trihep *Includes only those patients with rhabdomyolysis events (CK >5,000 U/L) prior to treatment *Excludes data for 4 infants dosed within first 6 months of life *Excludes hospitalizations with unknown discharge dates
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