I was leading a global biomarker+genetic testing program aiming to identify hidden patients with Niemann-Pick type C, an ultra-rare and severe neuro-metabolic disease (prevalence 1:89’000, ~1’000 patients on treatment worldwide).
The project included 44 countries, mostly in Europe, Latin America, Middle East and North Africa. We used a highly specific and sensitive biomarker, Lyso-SM-509, provided by the Centogene AG lab, who was also performing the analyses.
We were able to identify >200 additional patients, achieving surprisingly high hit rate of 5 in 100, corresponding to 4 patients per month on average. Investment per patient identified was in the range of 5.2% of yearly treatment costs.
| CLIENT: Actelion Specialty Care Global Business Unit (as an Actelion employee and member of) | PROJECT TIME FRAME: January 2014 – August 2018 |
