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Rare diseases in a nutshell


It is an unfortunate reality that today,
we still do not have answers
for 95% of rare diseases
– this must change.
Stella Kyriakides
EU Commissioner for Health and Food Safety


Rare diseases identified


Patients affected
by rare diseases


With a genetic origin


affecting children

Our manifesto

Rare diseases,
a challenge
for all of us

Usually referring to indications affecting less than 0.5% of the general population, rare diseases are a massive burden on our society.
With 30m of people affected in Europe and 300m across the world, we all know someone affected directly or indirectly by such a pathology.

While research has made significant progress, rare communities continue to face the same challenges:

  •  Diagnosis delay – up to 5 years to receive the correct diagnosis
  •  Limited access to curative treatments – only 5% of rare diseases have a treatment approved
  •  Poor awareness from the governmental institutions and general population on the impact of rare diseases.

We, at Ampleia, don’t believe this is an immutable situation. We trust researchers’ ingenuity to go beyond existing concepts and commonly approved statements, and craft new visions on how to address rare diseases.



approved drugs

of them have no
treatment option


Of r&d pipeline
are orphan drugs


of approved drugs
in 2021


estimated market by 2030


orphan drugs
pipeline expansion

Emergence of therapeutic breakthrough technologies

Gene therapy, gene editing, artificial intelligence, mRNA, cell therapy have pushed the boundaries of treatable diseases over the past decades showing first applications within rare diseases space mostly unaddressed due to the complexity of the pathologic mechanisms leading to these diseases.

Increased diagnosis capabilities: with more patients diagnosed earlier in life
Next-generation sequencing (NGS) has revolutionized diagnosis journey for patients with more patients diagnosed earlier in life. It has also supported much more accurate patient stratification and increases probability of success (PoS) in the clinics.

Better understanding of the diseases and wider patient’s follow-up
Combination of expertises in biology, clinical science and diagnosis and the creation of centers of reference with large cohorts of patients dramatically helped to further grow knowledge around diseases evolution and characterization of the population of patients.

Regulatory incentives to have more orphan drugs developed
Orphan Drug Designation, Priority-review voucher or sakigake status… Extended exclusivity or fast-track to approval have fostered the development of orphan drugs reinforcing market potential for developers.