What are orphan drugs?
What are orphan drugs? Why are they important? Is there any incentive for their development?
Orphan drugs are medicines developed to diagnose, prevent or treat rare diseases. These affect a limited number of people, on average less than 200,000 people in the United States and no more than 5 in 10,000 people in Europe.
Special attention is paid to the application in paediatrics. Rare diseases experienced more frequently by the paediatric population are congenital malformations (45%), endocrine gland diseases, nutrition or metabolism diseases and immune disease (20%).
On the other hand, for adult patients rare diseases most frequently belong to the group of nervous system and sense organs (29%) or blood and lymphatic system (18%).
Other examples of orphan diseases falling into the category of the most known disorders include cystic fibrosis, Duchenne muscular dystrophy, Huntington’s disease, Cushing’s syndrome.
The importance of orphan drugs
Orphan drugs provide life-saving therapies or highly improving cures to patients suffering from rare diseases for whom there is no other therapeutic option, or where treatments (or diagnostics) available to patients are particularly invasive or whose tolerance and safety is simply to be improved.
Moreover, they play an important role in the scientific progress and innovation, since the continuous researching at the base of the development of these drugs can reveal new mechanisms of action and new paths for pharmaceutical development that can be useful for the discovery of new drugs.
However, orphan drugs have also many challenges to face during their developing as well as after their commercialization. The main challenge is, of course, related to the lack of profitability for pharmaceutical companies, due to the small size of the market and high R&D costs.
Another critical issue to be mentioned regards the difficulty to carry out clinical trials, due to the limited number of patients, the heterogeneous nature of the disease symptoms and the ethical problems linked to the use of placebos.
In addition, orphan drugs can bump into regulating obstacles, such as standards and requirements that may change from one country to the other.
In spite of the many obstacles they have to overcome to be developed and marketed, orphan drugs are vital elements in health systems, as they offer hope and relief to people suffering from rare diseases. Therefore, it is essential to have a supporting regulatory framework, favouring innovation and easy access to these products.
Orphan drug development incentives
As of 2000, in the EU orphan drugs are mandatorily subject to the centralised marketing authorisation.
A request of orphan drug designation can be submitted at any time during the drug development, however it is compulsory to submit it before the MA application to EMA.
To encourage orphan drug development, the European Union introduced a specific regulation in 2000, providing for a series of incentives and tax relieves for pharmaceutical companies.
These include free scientific advice by the European Medicine Agency (EMA), priority to access European research programmes, and 10-year exclusive market protection.
The regulations also provide for financial support to development projects via community programmes, assistance in the drafting of protocols consisting in a specific scientific consultancy by the EMA at reduced fees, and access to national incentive measures such as tax exemptions or tax credits.
To access these benefits, manufacturing companies need to face a set of complex and cogent procedures and regulatory requirements, demanding specific and up-to-date competence.
In this framework, Di Renzo Regulatory Affairs is able to offer qualified and customised support to companies manufacturing orphan drugs, thanks to its longstanding experience in this sector and its network of national and European experts and partners.
Di Renzo Regulatory Affairs can assist pharmaceutical companies in all phases of orphan drugs lifecycle, from orphan designation to the marketing authorisation application, including scientific advice, drafting of technical and regulatory documentation, managing of interactions with competent authorities, monitoring any news regarding regulations and best practice.
Moreover, Di Renzo Regulatory Affairs can provide services of pharmacovigilance, risk management, pharmacoeconomics, market access and scientific communication.
Di Renzo Regulatory Affairs is therefore the ideal partner for orphan drugs pharmaceutical companies wishing to face regulatory challenges and obtain the best possible results for their product and for patients suffering from rare diseases.
Written by: Valeria Cardinale and Anna Pia Dima on 19/04/2023
