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Frequently Asked
Questions
Rare diseases
What is a rare
disease?A disease is defined as rare in Europe when it affects less
than 1 in 2,000
citizens (Orphan
Drug Regulation
141/2000).
Nowadays 6000 to 8000 rare diseases have been identified,
affecting about 30
million European
citizens at some
point in their life.
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What is an orphan
disease?
In the EU, rare
diseases that are
also
life-threatening or
chronically
debilitating with a
low prevalence and a
high level of
complexity are
defined as orphan
diseases.
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What is an “orphan
drug"?
It is estimated that
over 6,000 rare
diseases exist,
although some say
the actual number is
closer to 8,000.
Since the prevalence
of such diseases is
low and the
development cost of
medicines is high,
industry is
reluctant to invest
in the absence of a
foreseeable return.
The medicines for
these diseases or
conditions are
therefore indicated
as ‘orphan
medicines’, having
no ‘sponsor’ or
‘parent’ to develop
them.
The European Union has defined an orphan medicine as one
that is intended for
a life-threatening
or seriously
debilitating
condition that has
no satisfactory
method of treatment
and also:
-
Affects 5 people
or less for
every 10,000
citizens (known
as the
“prevalence
criterion”);
or
-
Where the
treatment –
without
incentives –
would not
justify the
investment in
its
development
(known as the
“insufficient
profit
criterion”).
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Is
there a European
Regulation to
encourage the
development of
orphan drugs?
Yes, the Orphan Drug
Regulation 141/2000
came into force in
2000, the Regulation
states that patients
suffering from rare
conditions should be
entitled to the same
quality of treatment
as other patients.
The aim of the
regulation is
written in article
1:
"...to
lay down a Community
procedure for the
designation of
medicinal products
as orphan medicinal
products and to
provide incentives
for the research,
development and
placing on the
market of designated
orphan medicinal
products".
The regulation was,
therefore, created
to stimulate
research and
development and to
bring to the market
the appropriate
medications for
orphan disease
patients.
The most important
incentives are the
market exclusivity
for an orphan drug
for a period of 10
years after the
grant of marketing
authorization,
reduced fees for all
steps of the market
authorization
centralized
procedure at EMEA
(European Medicines
Agency).
The drugs need to
meet certain
criteria to be
called as "orphan",
the Committee for
Orphan Medicinal
Products (COMP) has
the role to decide
whether or not a
drug is eligible to
be called "orphan".
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Why
does there need to
be a European
Regulation about
orphan drugs?
Some 20-30 million
Europeans are
affected by rare
diseases. Before the
creation of the EU
Regulation, there
were almost no
treatments for these
diseases. Since the
Regulation, more
than 650
applications1 for
orphan designations
were submitted
relating to over 200
different rare
conditions. There
are now 58 medicinal
products (as of July
2009) that have
received a positive
opinion by the
European Medicines
Agency (EMEA).
But challenges still
remain. Patients
still face delays in
getting access to
these approved
treatments and there
are still many
diseases with no
treatments.
1
Summaries of opinion
on orphan
designation. EMEA
website
http://www.emea.europa.eu/htms/human/orphans/opinion.htm
(as of 15 September
2009)
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Why
are biotech drugs
relevant to orphan
diseases?
Biotechnology
provides powerful
tools to develop
diagnostics and
treatments for
orphan diseases. As
most of the rare
diseases are
genetic, at least
80% of rare diseases
have identified
genetic origins.
That is why
medicines
manufactured through
biotechnology and
gene technology can
provide a solution
to treat rare
diseases.
In gene therapy,
genes are introduced
to replace, repair
or switch off
defective ones. One
example of a genetic
disease is the
cystic fibrosis
which is already
treated by gene
technology.
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