EU/3/12/961

  • Email
  • Help

Orphan designation

On 5 March 2012, orphan designation (EU/3/12/961) was granted by the European Commission to Giampaolo Merlini, Italy, for doxycycline hyclate for the treatment of systemic amyloidosis caused by beta-2 microglobulin.

What is systemic amyloidosis caused by beta-2 microglobulin?

Systemic amyloidosis is a group of diseases in which deposits of proteins (called amyloids) accumulate in several organs in the body, causing damage to them. In systemic amyloidosis caused by beta-2 microglobulin, deposits containing the protein beta-2 microglobulin accumulate mainly in the bones and joints, causing bone and joint problems as well as fractures. This condition occurs in patients with long-term kidney failure who have been on dialysis for many years, as beta-2 microglobulin cannot be eliminated as normally in the urine.

Systemic amyloidosis caused by beta-2 microglobulin is a long-term debilitating condition because of the bone and joint problems.

What is the estimated number of patients affected by the condition?

At the time of designation, systemic amyloidosis caused by beta-2 microglobulin affected approximately 0.45 in 10,000 people in the European Union (EU)*. This is equivalent to a total of around 23,000 people, and is below the ceiling for orphan designation, which is 5 people in 10,000. This is based on the information provided by the sponsor and the knowledge of the Committee for Orphan Medicinal Products (COMP).

*Disclaimer: For the purpose of the designation, the number of patients affected by the condition is estimated and assessed on the basis of data from the European Union (EU 27), Norway, Iceland and Liechtenstein. This represents a population of 506,300,000 (Eurostat 2011).

What treatments are available?

At the time of designation, there were no treatments authorised in the EU for systemic amyloidosis caused by beta-2 microglobulin. The only effective method for treating this disease was kidney transplantation.

How is this medicine expected to work?

Doxycycline is an antibiotic that belongs to a group called ‘tetracyclines’. Doxycycline is known to accumulate in parts of the body where beta-2 microglobulin amyloids form, in particular in the bones and joints. This medicine is expected to work in systemic amyloidosis caused by beta-2 microglobulin by disrupting the deposits of beta-2 microglobulin, leading to the dissolution of the ‘amyloids’. This is expected to reduce the symptoms of the disease.

What is the stage of development of this medicine?

At the time of submission of the application for orphan designation, the evaluation of the effects of doxycycline hyclate in experimental models was ongoing.

At the time of submission, clinical trials with doxycycline hyclate in patients with systemic amyloidosis were ongoing.

At the time of submission, doxycycline hyclate was not authorised anywhere in the EU for systemic amyloidosis caused by beta-2 microglobulin or designated as an orphan medicinal product elsewhere for this condition.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 11 January 2012 recommending the granting of this designation.

Opinions on orphan medicinal product designations are based on the following three criteria
  • the seriousness of the condition;
  • the existence of alternative methods of diagnosis, prevention or treatment;
  • either the rarity of the condition (affecting not more than 5 in 10,000 people in the EU) or insufficient returns on investment.

Designated orphan medicinal products are products that are still under investigation and are considered for orphan designation on the basis of potential activity. An orphan designation is not a marketing authorisation. As a consequence, demonstration of quality, safety and efficacy is necessary before a product can be granted a marketing authorisation.

Key facts

Product details for <p>Doxycycline hyclate</p>
Active substanceDoxycycline hyclate
Medicine Name
Disease/conditionTreatment of systemic amyloidosis caused by beta-2 microglobulin
Date of decision05/03/2012
OutcomePositive
Orphan decision numberEU/3/12/961

Review of designation

The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.

Sponsor’s contact details:

Prof. Giampaolo Merlini
Amyloidosis Research and Treatment Center
Foundation IRCCS Policlinico San Matteo and University of Pavia
Viale Golgi, 19
27100 Pavia
Italy
Telephone: +39 0382 502995
Telefax: +39 0382 502990
gmerlini@unipv.it

Patients' organisations:

For contact details of patients’ organisations whose activities are targeted at rare diseases see

  • Orphanet, a database containing information on rare diseases which includes a directory of patients’ organisations registered in Europe.
  • European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.