50% of rare diseases typically occur in children
30% of children with rare disease will not live to see their 5th birthday
It can take on average 5 years (and sometimes much longer) before a person with a rare disease receives the right diagnosis
Approximately 40% of rare disease patients are misdiagnosed more than once or diagnosis is delayed for a variety of reasons
80% of rare diseases are genetic in origin, and thus are present throughout a person’s life, even if symptoms do not immediately appear
In the U.S., a disease is defined as rare when it affects fewer than 200,000 Americans at any given time. But with approximately 7,000 rare diseases worldwide, almost 5% of the world population, an estimated 350 million people, are living with a rare condition. The most alarming statistic? 95% of rare diseases do not have one single FDA approved drug treatment.
A rare disease is defined by the European Union as one that affects less than 5 in 10,000 of the general population. There are between 6,000 and 8,000 known rare diseases and around five new rare diseases are described in medical literature each week.

1 in 17 people, or 7% of the population, will be affected by a rare disease at some point in their lives. This equates to approximately 3.5 million people in the UK and 30 million people across Europe.

In the UK, a single rare disease may affect up to about 30,000 people. The vast majority of rare diseases will affect far fewer than this – some will affect only a handful, or even a single person in the whole of the UK.

80% of rare diseases have a genetic component. Often rare diseases are chronic and life-threatening. Rare diseases can be single gene, multifactorial, chromosomal or non-genetic.

75% of rare diseases affect children. Rare diseases include rare cancers such as childhood cancers and some other well known conditions, such as cystic fibrosis and Huntington’s disease.
PCT – The International Patent System The Patent Cooperation Treaty (PCT) assists applicants in seeking patent protection internationally for their inventions, helps patent Offices with their patent granting decisions, and facilitates public access to a wealth of technical information relating to those inventions. By filing one international patent application under the PCT, applicants can simultaneously seek protection for an invention in a very large number of countries.
FEE TABLE
FAQ INFORMATION

Protocol assistance

The Agency provides a form of scientific advice specifically for orphan medicines called protocol assistance. This allows sponsors to get answers to their questions on the types of studies needed to demonstrate the medicine's quality, benefits and risks, and information on the significant benefit of the medicine.

Update: Protocol assistance is available at a reduced charge for designated orphan medicines, linked to a fee-reduction scale that depends on the status of the sponsor. There is no restriction on the number of times a sponsor can request protocol assistance.

The Agency provides a form of scientific advice specifically for orphan medicines called protocol assistance. This allows sponsors to get answers to their questions on the types of studies needed to demonstrate the medicine's quality, benefits and risks, and information on the significant benefit of the medicine.

Range of incentives offered in the European Union (EU) for medicines that have been granted an orphan designation by the European Commission - click here

Access to the centralised authorisation procedure

All designated orphan medicines are assessed for marketing authorisation centrally in the European Union. This allows companies to make a single application to the European Medicines Agency, resulting in a single opinion and a single decision from the European Commission, valid in all EU Member States. Sponsor’s may also have access via orphan designation to conditional approval, which is conducted under the centralised procedure.

Range of incentives offered in the European Union (EU) for medicines that have been granted an orphan designation by the European Commission - click here

Ten years of market exclusivity market exclusivity

Authorised orphan medicines benefit from ten years of protection from market competition with similar medicines with similar indications once they are approved. This period of protection is extended by two years for medicines that also have complied with an agreed paediatric investigation plan granted at the time of review of the orphan medicine designation.

Range of incentives offered in the European Union (EU) for medicines that have been granted an orphan designation by the European Commission - click here

Fee reductions

Companies applying for designated orphan medicines pay reduced fees for regulatory activities. This includes reduced fees for protocol assistance, marketing-authorisation applications, inspections before authorisation, applications for changes to marketing authorisations made after approval, and reduced annual fees.

Range of incentives offered in the European Union (EU) for medicines that have been granted an orphan designation by the European Commission - click here

Grants

The Agency does not offer research grants for sponsors of orphan medicines, but funding is available from the European Commission and other sources:

Horizon 2020External link icon, the EU Framework Programme for Research and Innovation (see the theme Personalising Health and CareExternal link icon which covers New therapies for rare diseasesExternal link icon); E-RareExternal link icon, a transnational project for research programmes on rare diseases. Grants are also available for sponsors considering research in the United States or Japan:

United States: Food and Drug Administration: Orphan products grants programExternal link icon Japan: National Institute of Biomedical Innovation: Services to promote development of medicinal products for rare diseasesExternal link icon

Range of incentives offered in the European Union (EU) for medicines that have been granted an orphan designation by the European Commission - click here

The initial list of disease priorities needing urgent R&D attention comprises:

Crimean Congo haemorrhagic fever, Ebola virus disease and Marburg, Lassa fever, MERS and SARS coronavirus diseases, Nipah and Rift Valley fever. The list will be reviewed annually or when new diseases emerge.

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