Role of patient

Alexei tren

A bit of history... Rare diseases have been around for decades, even centuries, do not stop at the border, and make no distinction between ”rich and poor” . A well-known example is hemophilia. This rare bleeding disorder afflicted quite a number of members of royal families across Europe in the 19th and 20th century, including Alexei, the youngest child and only son of Emperor Nicholas II and heir to the throne of the Russian Empire.

Nowadays, the role of rare disease patients in rare disease research and orphan drug development is enormous and at all stages of the drug innovation cycle: from bench to bed and from bed to bench.

Rare disease patients or their parents initiate research, provide the necessary funding, provide input to research agendas, own patents, initiate product development programs, maintain registries and biobanks, and even start their own companies. The aim of this section of Rare disease matters website is to provide an overview of all kinds of different patient initiatives, and to send out the message to other patients that they are not alone, and perhaps can learn from or even team up with others in their admirable battle. To give three examples:

  • In France Lysogene, a company founded by a parent of a child with Sanfilippo syndrome type IIIA (Mucopolysaccharidosis IIIA), is working on a gene therapy product (
  • At the same time, in the US, another parent of twins with Nieman Pick type C has discovered that a sugar molecule cyclodextrin might be beneficial ( In the US as well as EU an orphan designation has been granted for the product.
  • Finally, the AKUsociety is collaborating with academia and industry to study the potential clinical effect nitisinone, a product approved for tyrosinemia type I (orfadin®), may have in alkaptonuria (

Merely a coincidence, but all three examples target an exceptionally rare disorder, that by the way also has the interest of the pharmaceutical industry.

An important note of caution, the overall aim of this section is not to provide a complete listing of patient initiatives, this is an impossible task (for now). Merely, I would like to show patients who want to do more that they are not alone in their specific quest. Over time I will record many more patient initiatives, and categorize them appropriately to facilitate your quest for information.

Please feel free to tell me about your specific initiative!

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