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NORD Rare Summit Poster Abstracts

One of the unique features of the NORD Rare Summit is our expansive poster abstracts exhibit. In 2018, 80+ abstracts were submitted with the overall theme of “Life-Transforming Treatments.” The posters listed below cover four themes and were chosen based on the following guidelines.

2018 Poster Abstracts

Submissions under this theme cover any type of research or collaborative initiatives conducted in rare diseases and orphan products.

  • Mitochondrial Fatty Acid Oxidation Disorders: Innovative Concepts Driving Promising Therapies
    Al-Walid Mohsen and Jerry Vockley
  • Clonogenic cells are a therapeutic target in Neurocutaneous melanocytosis, a rare melanocytic congenital neoplasm
    Dipanjan Basu, Claúdia Salgado and Miguel Reyes-Múgica
  • Clinical development of a novel oral activator of red cell pyruvate kinase for the treatment of pyruvate kinase deficiency
    Bryan W. Jones, Karen M. Anderson, Marie-Hélène Jouvin, Chris Bowden
  • The rationale for gene therapy in lysosomal storage disorders (LSDs)
    Fernanda D. Copeland, MS, RD, CDE Shari Fallet, DO Gabriel Cohn, MD, MBA Nerissa C. Kreher, MD, MBA
  • PATH for PWS: Observational Natural History Study of Serious Medical Events in Prader-Willi Syndrome
    Foundation for Prader-Willi Research, Zafgen, Inc., University of Florida, University of Colorado
  • Living on the Precipice: The Journey of Children with Rare Diseases and Their Families (Press Release)
    Lyon ME, Wang J, Fratantoni K, Detwiler K, Cheng Y, Thompkins JD, Summar M.
  • Are orphan drugs approved for pediatric use different from those approved for adult use only?
    Kathleen L. Miller and Michael Lanthier
  • Constructive vs Destructive Coping Methods in Siblings of Patients With Epileptic Encephalopathies: Targets for Intervention
    Laurie D. Bailey, Arnold R. Gammaitoni, Bradley S. Galer, Lauren Schwartz, Carla Schad
  • The Myelodysplastic Syndrome Clinical Research Consortium: A New Model for MDS Clinical Research in the U.S.
    Ellen J. Salkeld, Ph.D., Drexel University, AAMDSIF
  • From Bench to Bedside to Community: An Ethnographic Account of the Forged Journey of Four Rare Disorder Communities
    Maria J. H. Null
  • Treatment of Infantile Neuroaxonal Dystrophy (INAD) with a Stabilized Polyunsaturated Fatty Acid Drug: Report of 2 cases
    Darius Adams, Janannaz Dastgir, Robert Molinari, Frederic Heerinckx, Peter Milner
  • Examining the use of a highly tractable genetic model to explore the role of miRNAs in rare, and poorly understood, disorders
    Scarlett A Eagle, Elizabeth M McNeill
  • AcroVoice: The Patient Perspective on Acromegaly Disease Activity (Press Release)
    Yanina Jackson, PhD1; Mark Lundie, PhD1; Emuella Flood, PhD2; Stephanie Rhoten, MS3; Andreas Pleil, PhD4
  • Anti-interleukin-6 therapy (tocilizumab) improves chronic hip synovitis and bone healing in a piglet model of Legg-Calve-Perthes Disease (Press Release)
    Harry Kwang-Woo Kim MD; Olumide Aruwajoye PhD; Thomas Wesley Mitchell; Michael Kutschke BS; Vishal Gokani BS; Naga Suresh Adapala PhD
  • mGAP, An Innovative Nonhuman Primate Model Resource to Support the Study and Treatment of Rare Human Diseases (Press Release)
    Betsy Ferguson, Melissa Yan, Lyndsey Shorey, Eliot Spindel, Amanda Vinson, Samuel Peterson and Benjamin Bimber
  • Lightning strikes twice? Searching for primary familial brain calcification patients with multiple pathogenic variants
    Borges-Medeiros R.L., Oliveira J.R.M.
  • Is the CADASIL Family Registry Research Ready?
    Sandra E. Talbird, Elizabeth M. La, Nancy Maurer, JoAnne Vidal, Vanessa Rangel Miller
  • A Novel Investigational Treatment in Preclinical Development for Galactosemia
    Rasmussen S, Daenzer J, Williams M, Perfetti R, Shendelman S, Fridovich-Keil J
  • Human Plasma Derived Plasminogen Ophthalmic Drops for Ligneous Conjunctivitis: Safety & Efficacy of Phase 2/3 Clinical Trial
    Charles T Nakar, MD1, Roberto Caputo, MD2, Francis W Price Jr., MD3, Maria Teresa Sartori, MD4, Andrea Leonardi5, Anna Lotti Suffredini6, Neelam Thukral
  • The PML Consortium as a Model for Collaborative Efforts to Advance Research and Dialogue on Rare Diseases
    Ilse Peterson and William Iverson
  • Increase in lomitapide use following implementation of a high touch care model leveraging several health care disciplines
    Doug Mager, MA, Mary Dorholt, PharmD
  • Why Don’t Adults with Phenylketonuria Comply with Treatment Goals? New Research Findings Based on Patient Experience Data
    Annie Prince, PhD, RD, Maria Depenweiller, BaSc, P.H.Ec.
  • Ricin Toxin Vaccine: Using Monoclonal Antibodies as Biomarkers to Satisfy the FDA’s Animal Rule in Orphan Disease
    Soligenix, Inc.
  • A Novel Approach to Oral Mucositis: An Unmet Medical Need in Head and Neck Cancer Patients
    Soligenix, Inc.
  • Big Data Analytics to Estimate Prevalence of Vascular Ehlers-Danlos Syndrome and Rates of Rupture Events
    Tara Grabowsky, Mike Bassett, Theresa Arndt, Jeremy S. Paige, Chris Schelling
  • Characteristics of Patients With Progressive Supranuclear Palsy (PSP) in US Health Insurance Claims Data (Summary)
    Viscidi E, Dam T, Juneja M, Li L, Krzywy H, Eaton S, Chen S-Y, Hall S, Dilley A
  • Development of an Expanded Access Network to Facilitate Patient Access to Investigational Agents (Press Release)
    Misty A. Gravelin, George A. Mashour, Raymond J. Hutchinson, Jeanne Wright, Amy J. Skyles, Kimberly A. Redic, Kevin J. Weatherwax (Michigan Medicine, University of Michigan)
  • Optimizing NeuroMetabolics in Orphan Disease by Overriding Epigenetic Insult that Exacerbates the Clinical Course
    Kane PC, Cartaxo AL, Storch KJ, Bach JR, Pouria S, Downing D, Leventhal SL, Kane E, Wnorowski TM, Speight MO, Mollhausen SG
  • Methodology for Development of Indication-Specific Outcome Measures in Rare Disease Trials: An Innovative Research Approach
    Pam Ventola, Anna Lee, Jeannie Visootsak
  • Rare disease epidemiology: A Danish population-based program
    Jon P. Fryzek, MPH PhD; Lauren C. Bylsma, MPH; Robert J. Nordye, PhD; Henrik Toft Sørensen, MD PhD.
  • Comparison of different therapeutic modalities on lysosomal function in Gaucher disease
    Benjamin Adewale1,2, Erk Changsila1, Margarita M Ivanova1 and Ozlem Goker-Alpan1
  • Selective large scale screening for lysosomal storage disorders in minority groups shows higher incidence rates
    Renuka Pudi Limgala, Erk Changsila, Vyacheslav Furtak, Margarita M. Ivanova, Floyd Wilks, Marie N. Fidelia-Lambert, Marjorie C. Gondré-Lewis and Ozlem Goker-Alpan
    Jyoti Sharma, Li Ping Tang, J.R LaFontaine, Susan Birket, Donghui Bao, David M Bedwell, Steven M Rowe
  • Adaptive Study Designs: Too Clever by Half?: Innovative Program Design and Rare Disease Clinical Research
    William L. Slone Ph.D. and Michael F. Murphy, M.D., Ph.D.
  • First WHIM genetic screening study developed through a collaborative effort among academia, patient foundation, and sponsor
    Cristina Meehan, Maryssa Ellison, Marton Keszei, Irmel Ayala, Jennifer Mayer, Lucia Seminario Vidal, Sarah Hendrickson, Tarek Ebrahim, and Jolan Walter
  • Liver-Humanized Mice as Models for Human Metabolic Liver Disease
    Stephen C. Strom, Raghuraman Srinivasan, Mihaela Zabulica, Beat Thöny, Gabriella Allegri, Johannes Häberle

Submissions under this theme cover public health awareness and education of health care professionals or HCPs in rare diseases and orphan products.

  • Characterization of Granulomatous-Lymphocytic Interstitial Lung Disease
    Amita Sastry, Dr. Diana Treaba, Dr. Amrita Dosanjh, Kaitlyn Lew
  • Patisiran and Inotersen for Hereditary Transthyretin Amyloidosis: A Pharmacist’s Perspective on APOLLO and NEURO-TTR
    Christine B. Tsakiris, Pharm.D
  • Emerging Picture of Morbidity in Warts, Hypogammaglobulinemia, Infections, and Myelokathexis (WHIM) Syndrome
    Blaine Cloud, Ph.D.; Marnie Hoolahan
  • Pearson Syndrome: A Rare Cause of a Common Presentation in Pediatrics
    Lauren Pronman DO, Monica Rondinelli MD, Deepika Burkhardt MD, Sujithra Velayuthan MD, Ali Salar Khalili MD, Jirair K. Bedoyan MD, PhD
  • Rare Disease Interest Group (rareDIG) at McGill University: a medical education pilot project
    Andrei Aldea, Cyril Boulila, Kristin Hunt, Jessie Kulaga-Yoskovitz, Sean Munoz, Kyle St. Louis, Noémie Villeneuve-Cloutier, Nikola Wilk
    Faculty of Medicine, McGill University, Montreal, Quebec, Canada
  • Characterization of Granulomatous-Lymphocytic Interstitial Lung Disease
    Amita Sastry, Diana Treaba, Kaitlyn Lew, Amrita Dosanjh
  • Identifying Continuing Medical Education Needs of Physicians in the Diagnosis and Management of Patients with XLH
    Wendy Cerenzia, MS; Melissa Ellis, PhD; Sylvie Stacy, MD; Dustin Ensign BS; Stan Krolczyk, MD, RPH
  • Increasing Knowledge of Orphan Diseases Via Modern Technology
    Robin A. Powers, co author Rachel Shirron
  • Satisfaction with a Medical Education Course in Rare Diseases (Press Release)
    Melinda (Throm) Burnworth, PharmD, FASHP, FAzPA, BCPS
  • A Medical and Pharmacy Education Initiative: Rare Disease Poster Presentation “When you hear hoofbeats, think of zebras!”
    Midwestern University College of Pharmacy-Glendale
  • National Impact of NORD Student Chapters on Medical Education Advancement and Patient Advocacy
    Jennifer Nguyen, PharmD Candidate 2020 & Ilona Kravtsova, PharmD Candidate 2019

Submissions under this theme cover the advancement of patient education and involvement in the rare disease and orphan product community.

  • Building a Rare-Disease Platform for Patient-Community Engagement
    Debra Miller, Katherine Beaverson, Siobhan Fitzgerald, Mary Frances Harmon, and Dan Donovan
  • RareMedi: Accelerating the diagnosis and treatment development for rare diseases through mobile patient engagement
    Organization for Rare Diseases India (ORDI) and Jeeva Informatics Solutions
  • Building a Bridge for Batten Disease Families
    Melissa Feuerborn
  • Collaboration Between all Stakeholders: Accelerating to Treatments
    Monica Weldon
  • Utilizing Technology and Social Media to Increase Hepatitis Delta Awareness, Testing and Support
    Sierra Pellechio, BS, CHES; Chari Cohen, MPH, DrPH
  • Breaking Barriers: Building a Patient Registry for People with Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS)
    Yarden, N., Burstein, T., Portero, D., Washington, T.
  • Patient Advocacy in the Bleeding Disorders Community – NHF’s State-Based Advocacy Coalition (SBAC) Program
    Nathan Schaefer, Brendan Hayes, Bill Robie
  • New challenge involving stakeholders ~ RDD Japan’s 10th anniversary activities
    Yukiko Nishimura, Masatoshi Iwasaki, Shun Emoto, Ryoichi Sugimoto, RDD Japan Secretariat Office
  • The ITP Patient Registry: Educating the ITP Community and Providing a Link Between Treatment Options and Quality Life
    Jared C. Whitman, Caroline Kruse, Alexandra Kruse
  • The Use of Social Media to Promote Awareness of Rare Diseases
    Jessica Han and Yvonne Nguyen

The submissions under this theme still relate to the overall topic of rare diseases and orphan products but do not fit within the themes previously listed.

  • Life-changing effect of L-Carnitine in a patient with KAT6A syndrome (Press Release)
    Natacha Esber, Paul Najm
    R. I. Kelley, MD, PhD. Department of Genetics and Genomics, Boston Children’s Hospital, Boston, MA USA
  • Management of disease impacts in a life-limiting, rare genetic condition: Learnings from Barth Syndrome
    Iyar Mazar
  • Long Term Follow Up (LTFU) of Patients Treated with Gene Therapy (GT) Products – Considerations and Strategies for Patient Retention
    Mallikarjun Metukuri PhD, RAC
  • A Timeline of CBER-regulated Biological Products Licensed for Use in Rare Disease Since 1902
    Jordan Haines, Julienne Vaillancourt, Mike Lanthier, Diane Maloney
  • Prompting awareness of rare diseases to future generations
    Veronica Sanchez
  • Emotional responses, related stressors and coping strategies for parents of children with Zellweger spectrum disorder (ZSD)
    Mousumi Bose, Meena Mahadevan, Dana R. Schules, Rory K. Coleman, Kelly M. Gawron, Melissa B. Gamble, Jean-Baptiste Roullet, K. Michael Gibson, and William B. Rizzo
  • NBSTRN and LPDR: Bridging Translational Neonatology and Pediatrics and Beyond
    Jennifer Krupp, Joanne Adelberg, Amy Brower, Jennifer Loutrel, Danielle Ekoma, Michael Watson
  • FDA’s Pediatric Device Consortia (PDC) Grants Program: Narrowing the Gap in Pediatric Medical Deivce Development (Press Release)
    Katie Chowdhury, MS, Catherine Park, BA, Carla Epps, MD, Eric Chen, MS

2017 Poster Abstracts

Submissions under this theme cover any type of research or collaborative initiatives conducted in rare diseases and orphan products.

  • Built for Neurofibromatosis – Ready for Rare Disease: The Children’s Tumor Foundation R&D Sandbox
    The Children’s Tumor Foundation team
  • Direct Injection of Bromelain and N-acetylcysteine into Recurrent, Inoperable, Pseudomyxoma Peritonei Tumors of the Appendix (Summary)
    St. George Hospital, Kogarah, Australia 
  • Repurposing guaiacol for the treatment of adult polyglucosan body disease (APBD) (Summary)
  • Urinary Epidermal Growth Factor and Monocyte Chemoattractant Protein-1 as Biomarkers of Renal Involvement in ANCA-Associated Vasculitis
  • Healthcare and Medical Service Utilization Among Patients with Angelman Syndrome (AS)
  • Newborn Screening for Arginase Deficiency in the U.S. –Where Do We Need to Go? (Summary)
  • An Investigation into the Natural History of Bardet-Biedl Syndrome
    Division of Genetics & Genomis Boston Children’s Hospital
  • Developing an innovative, integrated intervention for developmental synaptopathies
    Rush University Medical Center
    Mayo Clinic College of Medicine
  • The Alabama Genomic Health Initiative: Innovative Research Approach for Healthy Participants and the Rare Disease Community (Press Release)
    University of Alabama at Birmingham 
    Marquette University 
  • “Accurate Quantitative Measurement of Exercise Intolerance in Mitochondrial Myopathy
    Diagnosis and Clinical Trials”
    The Children’s Hospital of Philadelphia 
  • Targeting pulmonary cholesterol homeostasis: repurposing current and investigating new drugs for rare lung disease
    University of Cincinnati Medical Center and Cincinnati Children’s Hospital 
  • Attentional Profile and Executive Functions in Apert Syndrome
    Complutense University of Madrid
  • Toward Developing Patient-Relevant Outcome Measures for Choroideremia Trials (Summary)
    Choroideremia Research Foundation, Inc.
  • A novel PRF1 mutation associated with unusual clinical presentations including progressive atypical lymphoid infiltrate in brain and lungs
    Primary Children’s Hospital
  • Treadmill versus Overgound walking results in decreased variability in temporal gait parameters in Rett syndrome
    Bayor College of Medicine & Texas Children’s Hospital
  • Delayed diagnosis of childhood-onset pulmonary hypertension (PH): A cohort analysis
    Harvard Medical School
  • Interim Findings from the Siblings Voice Survey: Impact of Severe Childhood Epilepsy on Siblings 17 Years of Age or Under (Press Release)
    Zogenix, Inc. 
  • Characterization of disease severity in patients diagnosed with primary hyperoxaluria through family screening
    Mayo Clinic
  • Seizures and KATP Channel Closure in Neonatal Diabetes Mellitus (NDM): Consideration of Carbamazepine
  • Quality of life, caregiver emotional experience, and unmet needs in Zellweger spectrum disorders (ZSD): a qualitative study (Press release)
    The Global Foundation for Peroxisomal Disorders
  • Chronic Hepatocellular Injury and Fibrosis in Urea Cycle Disorders
    Texas Children’s Hospital 
  • Stevens-Johnson Syndrome & Toxic Epidermal Necrolysis
    Keck Graduate Institute School of Pharmacy 
  • Epigenetic insult drives clinical course of orphan disease with aberrant proteins and ceramides that may be attenuated with bioactive lipids (Summary)
    NeuroLipid Research Foundation 
  • Innovating Patient Finding in Rare Disease with Machine Learning
    Symphony Health Solutions 
  • Clinical Utility of Whole Exome Sequencing for the Diagnosis of Rare Diseases (Press Release)
    Prevention Genetics 
  • Personalized Medicine Approach Achieves Prolonged Remission in Idiopathic Multicentric Castleman Disease Patient
    University of Pennsylvania 
  • Examining the high disease burden and impact on quality of life in Familial Chylomicronemia Syndrome
  • Principles for Interactions With Biopharmaceutical Companies: Development of Guidelines for Patient Advocacy Organizations
  • The A-BOM: Collaborating to identify patient-centered biomarkers and outcome measures for Angelman syndrome (Summary)
    Angelman Biomarkers and Outcome Measures Alliance 
  • RaDMed Comprehensive Rare Disease Drug Information Source
  • Blood and Brain Biomarkers of Oxidative Stress and Inflammation in Type 1 Gaucher Disease: Effect of Antioxidant Therapy (Press release)
  • Parietal epithelial cells (PEC) in male patients with Fabry disease (FD) nephropathy (FN)
  • Development of an Innovative Pediatric Rare Disease Center
  • TSC Preclinical Consortium: Facilitating Drug Development Through Collaboration of Patient Advocacy, Industry and Academia
    Children’s Hospital of Pittsburgh of UPMC 
  • Trofinetide, A Novel IGF-1 Related Treatment, Demonstrates Efficacy for Children and Adolescents with Rett Syndrome
  • Arterial Tortuosity Syndrome: 40 new families and literature review
  • The Genetic and Rare Diseases Information Center (GARD): Improving Access to Hard-to-find Rare Diseases Information
    Genetic and Rare Diseases Information Center
  • With the Growing Cost Burden of Orphan Drugs to U.S. and European Payers, Pharmacoeconomic Evidence Takes Center Stage
    Decision Resources Group 
  • NextGeneration Phenotyping: A Performance Analysis of this Innovative Research Platform
    FDNA (Press release)
  • “A Novel Drug Therapy Strategy for Treating Fatty Acid Beta-Oxidation Disorders” (Summary)
    University of Pittsburgh
  • “A seizure: the first piece of the puzzle Neurolupus and Castleman’s like disease: a case report”
  • Beyond Best Practices, Measuring Success in Rare Disease Registries (Summary)
  • Education Advancement and Patient Advocacy Through the Implementation of NORD Student Chapters in a School of Pharmacy
    Keck Graduate Institute-School of Pharmacy 

Submissions under this theme cover public health awareness and education of health care professionals or HCPs in rare diseases and orphan products.

  • The Patient Educator Presentation in Dental Education (Summary)
    International Pemphigus & Pemphigoid Foundation 
  • Rare Disease Education at Scale: Educating 80,000 healthcare professionals (HCPs) about Hunter syndrome in seven weeks (Press release)
    Figure 1 
  • Real World Data Research Readiness: Engaging the Prader-Willi Syndrome Community
    Foundation of Prader-Willi Research 
  • Rare Disease Education: Don’t Forget the Nurses. A Case Study of a Hospital Nurse Uninformed About Rare Disease
    University of South Alabama 

Submissions under this theme cover the advancement of patient education and involvement in the rare disease and orphan product community.

  • Revealing the power of the rare disease community with state-of-the-art collaborative, trustworthy, digital education software (Press release)
    rareLife Solutions 
  • The unbearable weight of being rare: Results from the first national survey among people living with rare diseases in China (Press release)
  • “Building a Patient Community: Rare Genomics re-launches RareShare, a rare disorder social network” (Press release)
    Rare Genomics

The submissions under this theme still relate to the overall topic of rare diseases and orphan products but do not fit within the themes previously listed.

  • Necessary Relationships: The Effect of Pharmaceutical Relationships on Rare Disease Patient Advocacy Organizations (Summary)
    University of Colorado Denver
  • Strategic Planning for Rare Disease in the Scientific Community (Summary)
  • VHL Patient Natural History Study
    VHL Alliance 
  • The First Five Years: CBER’s Use of Breakthrough Therapy Designation to Advance Products for Rare Diseases (Summary)
    US Food and Drug Administration 
  • Shouldn’t Patient Registries Be Attractive to Patients?: Implementing Thoughtful Technology for Richer Data (Press release)
    The Life Raft Group 
  • The impact of patient crowdfunding in funding rare disease research through BeHEARD (helping to empower and accelerate research discoveries), a global rare disease science competition.
    Rare Genomics Institute 
  • Social Media in Rare Disease: The role of Facebook in advocacy and research for DDX3X syndrome
    Clinic for Special Children