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Why would we need a pre-diagnosis tool in rare diseases?

1 out of 20 people

have a rare disease

(source: French Rare Disease Foundation, May 2016)

7 000 rare diseases

identified so far.

(source: French PNMR 3, 2018)

3 years average

for a diagnosis to be made

(source: French PNMR 3, 2018)

Diagnostic odyssey

Definition

Diagnostic delay is when abnormally long delays occur, at one or more stages of the diagnostic process. It can also qualify a period during which no diagnosis of certainty can be made, for lack of sufficient clinical signs characteristics, resulting in support that is not the most suitable.

Some concrete examples

Pathology	Time to diagnose for 50% of patients	Time to diagnose for 75% of patients
Cystic fibrosis	1.5 months	15 months
Tuberous sclerosis	4 months	3 years
Duchenne muscular dystrophy	12 months	3 years
Prader Willi syndrome	18 months	6.1 years
Marfan syndrome	18 months	11.1 years
X Fragile syndrome	2.8 years	5.3 years
Ehlers Danlos syndrome	14 years	28 years

Source White Paper UNIR - Innovating together to reduce diagnostic error in rare diseases, 2019

Reduce diagnostic delay in rare diseases

accelRare®, the HCPs' digital companion facing patients with an atypic clinical situation

Why would we need a pre-diagnosis tool in rare diseases?

Diagnostic odyssey