Rare Diseases

Rare Diseases


"There are approximately 7,000 rare diseases affecting an estimated 30 million people in the United States."

– Janet Woodcock, FDA

The Trio Health and NORD Collaboration


The National Organization for Rare Disorders (NORD), the country’s leading voice for the rare disease patient community, is collaborating with Trio Health to leverage its innovative platform to monitor real-world patients. This unique insight will allow physicians, drug manufacturers, regulatory agencies and advocacy organizations to better serve and improve patient outcomes.

"The Power of Patients
Informing Our Understanding of Rare Diseases"


This important collection of real-world insights is informed by scientifically validated, patient-reported, patient-experience data collected by NORD's registry community. It was developed in partnership with six patient organizations and features a foreword by Janet Woodcock, MD Director of FDA's Center for Drug Evaluations and Research.

The Power of Patients highlights the critical importance of patient participation in registries and how essential natural history data for rare diseases is to the research and development of new treatments. With 90% of the more than 7,000 rare diseases still without an FDA-approved treatment, that is progress vital to the lives of the millions of Americans affected by rare diseases.

To read the press release, please click here.

If you are interested in downloading a copy of this book, please click here.

Publications


2019


Clinical Practice Utilization and Outcomes with Rasburicase Vs Allopurinol for Patients at High Risk of Tumor Lysis Syndrome

Janna Radtchenko, Daniel Lyons, Yvonne Barnes, Scott Milligan, and Edward Drea

DOI: 10.1182/blood-2019-124319

Abstract Presented at: The American Society of Hematology (ASH)

Conference dates: December 07, 2019 - December 10, 2019


Misdiagnosis of Desmoid Tumors; Insight From the Desmoid Tumor Research Foundation (DTRF) Patient Registry

Kelly Mercier, Lynn Hernandez, Vanessa Boulanger, Allison Seebald, Suzanne Rossov, and Kelsey Milligan

Poster Presented at: National Organization for Rare Disorders (NORD)

Conference dates: October 21, 2019 - October 22, 2019


Quality of Life in Pediatric Patients With SYNGAP1-Related Non-Syndromic Intellectual Disability (NSID); Data From the SYNGAP1 (MRD5) Patient Registry

Weldon M, Holder J, Rumbaugh G, Smith-Hicks C, Boulanger V, Seebald A, Rossov S, and Milligan K

Poster Presented at: National Organization for Rare Disorders (NORD)

Conference dates: October 21, 2019 - October 22, 2019


The PKU Patient Registry: Understanding The Natural History of PKU

Olaf Bodamer, Harvey Levy, Eileen Blakely, Christine Brown, Hilary Feldman, Rhonda Connolly, Kathryn Moseley, Vanessa Boulanger, Allison Seebald, Suzanne Rossov, Kelsey Milligan, Janna Radtchenko

Poster Presented at: National Organization for Rare Disorders (NORD)

Conference dates: October 21, 2019 - October 22, 2019


Quality of Life and Demographics of Patients with Immune Thrombocytopenia (ITP); Data from the Platelet Disorder Support Association (PDSA) Patient Registry

Caroline Kruse, Alexandra Kruse, Nancy Potthast, Vanessa Boulanger, Allison Seebald, Suzanne Rossov and Kelsey Milligan

DOI: 10.1097/01.HS9.0000567492.92876.8b

Poster Presented at: European Hematology Association (EHA)

Conference dates: June 13, 2019 - June 16, 2019


Quality of Life (QOL) and Tumor Location in Patients With Desmoid Tumors; Data From The Desmoid Tumor Research Foundation (DTRF) Natural History Study

Kelly Mercier, Lynne Hernandez, Vanessa Boulanger, Allison Seebald, Suzanne Rossov, Kelsey Milligan

DOI: 10.1200/JCO.2019.37.15_suppl.e18291 Journal of Clinical Oncology 37, no. 15_suppl

Poster Presented at: ASCO

Conference dates: May 31, 2019 - June 04, 2019


Understanding Disease and Burden in Syngap1-Related Non-Syndromic Intellectual Disability (NSID) Using a Patient Registry Database

Weldon M, Holder J, Rumbaugh G, Smith-Hicks C, Boulanger V, Seebald A, Rossov S, Milligan K, and Radtchenko J.

DOI: 10.1016/j.jval.2019.04.1689

Poster Presented at: International Society for Pharmacoeconomics and Outcomes Research (ISPOR)

Conference dates: May 18, 2019 - May 22, 2019


Understanding Real-World Treatment Patterns and Quality of Life in Patients with Pemphigus and Pemphigoid Using a Patient Registry Database

Yale ML, Boulanger V, Seebald A, Rossov S, Milligan K, and Radtchenko J

DOI: 10.1016/j.jval.2019.04.1697

Poster Presented at: International Society for Pharmacoeconomics and Outcomes Research (ISPOR)

Conference dates: May 18, 2019 - May 22, 2019


The Use of a Patient Registry to Better Inform Healthcare Decision Makers and Improve Clinical Outcomes for Patients with Phenylketonuria (PKU)

Bodamer O, Levy H, Blakely E, Brown C, Feldman H, Connolly R, and Moseley K, Boulanger V, Seebald A, Rossov S, Milligan K, Radtchenko J

DOI: 10.1016/j.jval.2019.04.1701

Poster Presented at: International Society for Pharmacoeconomics and Outcomes Research (ISPOR)

Conference dates: May 18, 2019 - May 22, 2019


The Use of Patient Reported Registry Data to Improve Health Outcomes for Patients with Opsoclonus Myoclonus Syndrome (OMS)

Michaelis M, Khoury-Dennis C, Boulanger V, Seebald A, Rossov S, Milligan K, and Radtchenko J

DOI: 10.1016/j.jval.2019.04.1698

Poster Presented at: International Society for Pharmacoeconomics and Outcomes Research (ISPOR)

Conference dates: May 18, 2019 - May 22, 2019


Understanding Demographics and Diagnosis in Syngap1-related Non-Syndromic Intellectual Disability (NSID) Patients Using a Patient Registry Database

Weldon M, Holder J, Rumbaugh G, Smith-Hicks C, Boulanger V, Seebald A, Rossov K, and Milligan K

The Power of Patients: Informing Our Understanding of Rare Diseases: Posters and Acknowledgements

Poster Presented at: National Institute of Health (NIH)

Conference dates: February 28, 2019 - February 28, 2019



2018


The Opsoclonus Myoclonus Syndrome (OMS) Registry: A Vehicle to Better Understand the Natural History and Experience of OMS Patients

Mike Michaelis, Christy Khoury-Dennis, Vanessa Boulanger, Allison Seebald, Suzanne Rossov, Scott Milligan, and Janna Radtchenko

Poster Presented at: National Organization for Rare Disorders (NORD)

Conference dates: October 15, 2018 - October 16, 2018


Symptoms and Diagnosis of Opsoclonus Myoclonus Syndrome (OMS): Early Data from the OMS Registry

Mike Michaelis, Christy Khoury-Dennis, Vanessa Boulanger, Allison Seebald, Suzanne Rossov, Scott Milligan, and Janna Radtchenko

Poster Presented at: National Organization for Rare Disorders (NORD)

Conference dates: October 15, 2018 - October 16, 2018


Treatment Utilization by Patients with Opsoclonus Myoclonus Syndrome (OMS): Insights from the OMS Registry

Mike Michaelis, Christy Khoury-Dennis, Vanessa Boulanger, Allison Seebald, Suzanne Rossov, Scott Milligan, and Janna Radtchenko

Poster Presented at: National Organization for Rare Disorders (NORD)

Conference dates: October 15, 2018 - October 16, 2018


NORD RareCare® Assistance Programs: Helping the Rare Disease Community Access Diagnostics and Care

Jill Pollander, Pamela Gavin, and Jeremy Broestl

Poster Presented at: National Organization for Rare Disorders (NORD)

Conference dates: October 15, 2018 - October 16, 2018


The Pemphigus-Pemphigoid Registry: Real-World Diagnostic and Treatment Patterns

Marc L. Yale, Vanessa Boulanger, Allison Seebald, Suzanne Rossov, Scott Milligan and Janna Radtchenko

Poster Presented at: National Organization for Rare Disorders (NORD)

Conference dates: October 15, 2018 - October 16, 2018


The Pemphigus-Pemphigoid Registry: First Report of Patient Quality of Life Measures

Marc L. Yale, Vanessa Boulanger, Allison Seebald, Suzanne Rossov, Scott Milligan and Janna Radtchenko

Poster Presented at: National Organization for Rare Disorders (NORD)

Conference dates: October 15, 2018 - October 16, 2018


The Pemphigus-Pemphigoid Registry: A Platform to Improve Understanding and Advance Care

Marc L. Yale, Vanessa Boulanger, Allison Seebald, Suzanne Rossov, Scott Milligan, and Janna Radtchenko

Poster Presented at: National Organization for Rare Disorders (NORD)

Conference dates: October 15, 2018 - October 16, 2018


The PKU Patient Registry: A Step for Better Disease Awareness and Improved Patient Outcomes

Eileen Blakely, Christine Brown, Olaf Bodamer, Harvey Levy, Hilary Feldman, Rhonda Connelly, Kathryn Moseley, Vanessa Boulanger, Allison Seebald, Suzanne Rossov, Scott Milligan, and Janna Radtchenko

Poster Presented at: National Organization for Rare Disorders (NORD)

Conference dates: October 15, 2018 - October 16, 2018


The PKU Patient Registry: Understanding Diagnosis and Medical History of Patients with PKU

Eileen Blakely, Christine Brown, Olaf Bodamer, Harvey Levy, Hilary Feldman, Rhonda Connelly, Kathryn Moseley, Vanessa Boulanger, Allison Seebald, Suzanne Rossov, Scott Milligan, and Janna Radtchenko

Poster Presented at: National Organization for Rare Disorders (NORD)

Conference dates: October 15, 2018 - October 16, 2018


The PKU Patient Registry: Evaluating Treatment Paradigms of Patients with PKU

Eileen Blakely, Christine Brown, Olaf Bodamer, Harvey Levy, Hilary Feldman, Rhonda Connelly, Kathryn Moseley, Vanessa Boulanger, Allison Seebald, Suzanne Rossov, Scott Milligan, and Janna Radtchenko

Poster Presented at: National Organization for Rare Disorders (NORD)

Conference dates: October 15, 2018 - October 16, 2018