Rare Bone Disease Alliance Scientific Symposium
Exploring Hypophosphatasia (HPP) and Generalized Arterial Calcification of Infancy (GACI)
February 17, 2022 | 5:00pm – 8:00pm EST
Chaired by Eric T. Rush, MD, FAAP, FACMG
The Rare Bone Disease Alliance is excited to announce the second Rare Bone Disease Alliance Scientific Symposium on February 17 with a focus on HPP and GACI. In this series, researchers and expert speakers explore two rare bone diseases that are at different stages of treatment innovation and understanding of natural history. It is intended for researchers and clinicians interested in rare bone diseases.
Developing therapies for rare bone diseases present unique challenges requiring multiple steps, from identifying cellular pathways and targets to conducting clinical trials in diverse and challenging patient populations. This symposium will highlight two rare bone diseases at different stages of this process: hypophosphatasia (HPP) and generalized arterial calcification of infancy (GACI). Registration and the full agenda can be found below.
RBDA Scientific Symposium
Emerging Research and Clinical Applications in Rare Bone Disease: HPP and GACI
5:00pm Welcome Remarks
Eric Rush, MD, Clinical Geneticist, Children’s Mercy Kansas City
Disease State #1: Hypophosphatasia
5:05pm – 5:30pm The Neuropsychiatric Impact of HPP on Adults and Children
Jill Simmons, MD, Pediatric Endocrinologist, Vanderbilt University Medical Center
Rene Pierpont, PhD, Pediatric Neuropsychologist, University of Minnesota
5:30pm – 5:45pm Questions and Discussion
5:45pm – 6:10pm Update on HPP Natural History Research
Cheryl Rockman-Greenberg MD, CM, FRCPC, FCCMG, Distinguished Professor, Department of Pediatrics and Child Health, Max Rady College of Medicine, University of Manitoba, Winnipeg, Canada
6:10pm – 6:25pm Questions and Discussion
Disease State #2: Generalized Arterial Calcification of Infancy
6:25pm – 6:50pm Advances in our Understanding of GACI and Other Manifestations of ENPP1 and ABCC6-related disease
Carlos Ferreira, MD, Principal Investigator, National Institutes of Health (NIH)/National Human Genome Research Institute (NHGRI)
6:50pm – 7:05pm Questions and Discussion
7:05pm – 7:30pm A Phase 1/2, Open-Label, Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of INZ-701 Followed by an Open-Label Long-Term Extension Period in Adults With ENPP1 Deficiency
Gus Khursigara, PhD, Vice President, Medical Affairs & Clinical Operations, Inozyme Pharma Inc
7:30pm – 7:45pm Questions and Discussion
7:45pm – 7:50pm Conclusion and Words of Gratitude
