Rare Diseases: All information online at ZIPSE

Interview with Martin Frank, Project Manager for ZIPSE – Central Information Portal for Rare Diseases (German: Zentrales Informationsportal über Seltene Krankheiten)

They are rare, often under-researched and it is difficult to learn about them – rare diseases. Patients, family members and even physicians frequently have a hard time finding qualitative information on diagnosis and treatment options or specialized care providers. Thanks to the Central Information Portal for Rare Diseases, ZIPSE, this should soon change.


Photo: Yound man with short brown hair and suit - Martin Frank

Martin Frank; ©CHERH

In this interview with MEDICA.de, Martin Frank talks about the already available range of information and the goals for the new portal.

Mr. Frank, how can patients and physicians presently find information on rare diseases?

Martin Frank: There are several online portals dedicated to rare diseases – providing either general information or specialized information about certain diseases. Orphanet is the European database for rare diseases. It provides information that is primarily helpful to care providers such as physicians. There are also several national and international information centers such as the National Organization for Rare Diseases (NORD) in the U.S. or NAMSE, the National Action Alliance for People with Rare Diseases.

Self-help organizations and Centers for Rare Diseases are also an important resource. They are oftentimes good contacts for patients, who have questions pertaining to social security or want to get information on specialized care providers. Another equally important resource for patients are physicians, who often have difficulties themselves to obtain qualified information, however.

How and why do these problems develop?

Frank: There is already a lot of information on some rare diseases. Others on the other hand are so rare that research projects are difficult to implement due to low patient numbers, which is why there is hardly any information available. The available data and information is often also hard to find.

Photo: One red between many green apples

About some diseases we have so far only few research results and information, precisely because they are so rare; ©panthermedia.net/ Sahilu11

How do you collect information on the portal?

Frank: Either website operators, who focus on one or several rare diseases, can contact us directly or we try to find and contact them. They can subsequently register with ZIPSE using a self-disclosure form. On it, we ask what information they have about a disease and related topics for example. These could be diagnosis and treatment options, self-help or communication between affected parties etc. We ultimately also ensure there is no conflict of interest for example, or whether and how the compiled information is identified. We like to provide ZIPSE users with the highest level of transparency for the provided information.

We also conduct secondary research with ZIPSE. We asked physicians via the State Medical Chamber of Lower Saxony (German: Ärztekammer Niedersachsen) on their information need. Together with the University Medical Center Freiburg, we also conducted patient interviews for this. The results of these surveys can be found in the categories on the portal’s homepage.

What structure will the portal have?

Frank: On the one hand, we are going to build in several filter functions, allowing users to filter search results in terms of specific topics such as diagnosis, treatment etc. What’s more, you will also be able to filter the pages based on aspects such as accessibility or types of publisher. In doing so, we are able to give users exactly the quality information they need.

In addition, we are going to setup an area that provides general information about rare diseases. Among other things, research projects and centers will be introduced in this area.

Photo: Older man with a laptop

All information about rare diseases will be collected at ZIPSE and can be found there; ©panthermedia.net/ Markus Hofmann

We will also list phone consultation services, such as the hotline for the German National Alliance for Chronic Rare Diseases (German: Allianz für Menschen mit Chronischen Seltenen Erkrankungen, ACHSE) for example. Guides will also be established in the Centers for Rare Diseases, which will support patients without a diagnosis in obtaining a diagnosis. We will also reference information about these guides.

What long-term goals is ZIPSE pursuing?

Frank: We are planning the publication of the prototype portal, which we develop little by little for mid-2015. In the near future, we are planning to introduce a stamp of approval system where specialized care providers such as self-help groups can give their stamp of approval for certain pages for example. This is meant to emphasize the quality of information at the respective page.

The quality of information published on ZIPSE is very important to us, which is why we will also conduct these and similar quality assurance measures in the future.

Why are so many different institutions participating in this project?

Frank: We need expertise from different fields for this project. The Institute for Medical Biometry, Epidemiology and Information Technology, IMBEI (German: Institut für Medizinische Biometrie, Epidemiologie und Informatik) at the University Medical Center Mainz is responsible for the implementation and programming of the portal. The Center for Quality and Management in Healthcare, ZQ, (German: Zentrum für Qualität und Management im Gesundheitswesen) is an institution of the State Medical Chamber of Lower Saxony and conducted the secondary research with physicians. ACHSE represents the interests of patients. The Frankfurt Reference Center for Rare Diseases and the University Medical Center Freiburg primarily support us in patient recruitment. Orphanet provides the lion’s share of data, which can be found on the information platform. And we coordinate the conceptual design here at the Center for Health Economics Research Hannover (CHERH) at the Leibniz University Hanover.

Foto: Michalina Chrzanowska; Copyright: B. Frommann

© B. Frommann

The interview was conducted by Michalina Chrzanowska and translated by Elena O'Meara.