29 February 2024 - A rare day against rare diseases

"Rare diseases" refer to diseases that have a low prevalence in the population. In the European Union, a disease is considered rare if it affects fewer than 5 in 10,000 people. Due to more than 6,000 different rare diseases, to which up to 250 new forms of disease are added each year, the number of people affected is immense, regardless of the rarity of the respective disease. In Germany, for example, around four million people are affected by a rare disease.

These diseases are primarily of a genetic nature but can also be caused by environmental factors. They are characterized by a serious, usually chronic, and progressive course of the disease, which can sometimes be life-threatening. Due to their rarity, patients are often faced with major challenges in terms of diagnosis, treatment, and research.

Rare Disease Day, first introduced in 2008, is dedicated to spotlighting these invisible efforts and serves as a platform to bring the needs of those affected to the attention of the public, healthcare providers and decision makers.

As Market Access Special Forces with a focus on orphan drugs, SKC consulting is once again intensively involved in various activities as part of this year’s Rare Disease Day and beyond, with the aim of providing patients with diseases for which there are no or only limited treatment options with access to effective treatment. This includes the following activities:

• SKC AMNOG Orphan Tracker: The tracker records the most important changes to all orphan procedures in and after the AMNOG on a bimonthly basis, summarizes them clearly and offers SKC insights in comprehensive AMNOG analyses based on data from SKC's own MAIS database,
• SKC-Podcast "The Profcast - Rare diseases and their therapies": The podcast series deals with the special circumstances of patients with rare diseases, the associated medicine and the challenges for research, development, economics, and reimbursement. Prof. Dr. med. Matthias P. Schönermark, managing director of SKC, talks to patient representatives, payers, clinicians and scientists as well as industry representatives and also focuses on specific diseases.
• Pro Bono Project: Cooperation with one of the leading children's hospitals for the treatment of rare diseases in Germany - the children's hospital on the Bult in the rare disease epidermolysis bullosa.
• Blog series on Rare Disease Day in February 2024: Various blog posts on rare indications and the associated challenges in the market access of orphan drugs.
• Rare Disease Day collage: SKC's colleagues have decorated themselves with the colors of the Rare Disease Day. Individual portraits with neon make-up and black light have been created into a colorful collage, supporting the motto "Share your colors" by all colleagues. We send this banner with every email that leaves our servers during the month of February.

As a reliable partner in market access, SKC is committed to driving innovation in the field of rare diseases. Even beyond Rare Disease Day 2024, we encourage everyone to actively participate in creating opportunities to overcome barriers, raise awareness and sustainably improve the lives of those affected by rare diseases.

References:

Orpha.net: https://www.orpha.net/consor/cgi-bin/Education_AboutRareDiseases.php?lng=DE

Rare Disease Day: Rare Disease Day 2024

Eurordis: https://www.eurordis.org/

Bundesministerium für Gesundheit: Seltene Erkrankungen (bundesgesundheitsministerium.de)