ISPOR RARE DISEASE SPECIAL INTEREST GROUP
Challenges in Assessment and Appraisal of Rare Disease Diagnostics & Treatments Working Group
Challenges in Assessment and Appraisal of Rare Disease Diagnostics and Treatments
Under peer-review at Value in Health
Co-Chairs:
Mondher Toumi MD, MSc, PhD
Professor, Public Health and Chronic Disease Laboratory
Aix-Marseille University
Marseille, France
Chris L. Pashos, PhD
Vice President, Global Outcomes and Epidemiology Research
Takeda Pharmaceuticals International, Inc.
Cambridge, MA, USA
Leadership Group:

Christopher Blanchette, PhD, MBA, Associate Dean for Research, College of Health and Human Services,
University of North Carolina at Charlotte, Charlotte, NC, USA
Daria Korchagina, MBE, Pricing & Market Access Analyst, Creativ Ceutical, Paris, France
Sandra Nestler-Parr, PhD, MPhil, MSc, Head of Rare Diseases, Roboleo & Co, London, England, UK
Ken Redekop, PhD, Associate Professor, HTA, Erasmus University, Rotterdam, The Netherlands
Steven Simoens, PhD, MSc, MA, Chair in Pharmacoeconomics, KU Leuven, Leuven, Belgium

Contributors to the Working Group

Goal:

To catalogue key challenges confronted while evaluating diagnostic and therapeutic modalities for rare diseases.

Background:

Properly assessing treatments for rare diseases involves addressing and overcoming various challenges that are unique to, or of special importance in, such diseases. For example, lack of basic understanding of the disease and its natural course is complicated by factors such as small patient numbers, geographic variation, and disease heterogeneity. Such issues are exacerbated due to lack of awareness among physicians and other health care providers of the disease and how to screen, diagnose, and treat it.

This working group will explicitly identify and categorize these various key challenges to assist organizations (including life sciences companies, health care providers, regulators, HTA authorities, and patient organizations) to more effectively conduct research and health technology assessment of interventions for rare diseases.

Activities:

Rare Disease Research, Health Technology Assessment and Evidence for Reimbursement
November 2017 - 20th Annual European Congress, Forum Presentation, Glasgow, Scotland

Challenges in Research and Health Technology Assessment of Rare Disease Technologies
May 2017 - 22nd Annual International Meeting, Forum Presentation, Boston, MA, USA

Rare Disease: Challenges in Assessing and Appraising Diagnostics and Treatments
November 2015 - 18th Annual European Congress, Forum Presentation, Milan, Italy

Rare Disease: Challenges in Assessing and Appraising Diagnostics and Treatments
November 2014 - 17th Annual European Congress, Forum Presentation, Amsterdam, the Netherlands

Rare Disease: Challenges in Assessing and Appraising Diagnostics and Treatments
June 2014 - 19th Annual International Meeting, Forum Presentation, Montreal, QC, Canada

Rare Diseases: Terms, Definitions, and Challenges in Assessing and Appraising Diagnostics and Treatments
November 2013 - 16th Annual European Congress, Forum Presentation, Dublin, Ireland

Work Product:

Rare Disease Challenges in Assessment and Appraisal of Diagnostics & Treatments

Work product timeline:
Activity Date

Rare Disease Meeting in Berlin

November 2012

RD SIG meeting at 18th Annual ISPOR International Meeting in New Orleans

May 21, 2013

RD Challenges WG meeting at ISPOR 16th Annual European Congress in Dublin

November 5, 2013

RD SIG Forum at ISPOR 16th Annual European Congress in Dublin

November 5, 2013

Major revisions to organization of manuscript along disease-related and tx-related challenges

January – February 2014

RD SIG Forum presentation at ISPOR Montreal

June 2, 2014

WG meeting at ISPOR Montreal

June 2, 2014

Finalize research & HTA sections, work on global & equity sections

June – July, 2014

Draft manuscript sent to RD SIG Review Group

August 11 – 25, 2014

Final draft sent out for review

October 24 – Nov 4, 2014

WG co-author meeting in Amsterdam Monday, November 10, 2014
RD SIG Forum presentation of final manuscript at ISPOR Amsterdam Monday, November 10, 2014
Revisions addressing comments and finalizing manuscript for submission January – March 2015

Final paper submitted to Value in Health

April 2015

Under peer review at ViH

May – August 2015

Address reviewer comments

September 2015 ongoing

Forum presentation ISPOR Milan

November 2015

Completely revise manuscript

January 2016 – March 2017

Submit new manuscript to Value in Health

April 2017

Manuscript under peer-review

May – August 2017

WORKSPACE ACCESS

Leadership Group Members
  Working Documents

How to login

User name: first part of the email address (before @) e.g. for jdoe@ispor.org it should be doe)

Password: ISPOR Member ID

Click here for login help

To join this SIG Working Group, see: Join a Special Interest Group.

Rare Disease SIG | Special Interest Groups Index