Table 1 Barriers and solutions during the preparatory stage
Barrier | How addressed |
|---|---|
Very rare genetic disease | Transnational collaboration |
Lack of knowledge | Carry out natural history study, establishment of single centres of expertise |
Low patient numbers | Intensive identification of patients in Europe and beyond |
Previous failed study | Understoodd reasons and addressed these |
Lack of reliable outcome measure | Developed multisystem assessment tool AKUSSI |
Availability of drug | Repurposing nitisinone already in use for another condition (HT-1) |
Lack of knowledge of dose of study drug | SONIA 1 dose–response study carried out |
Robust pharmaceutical partner | Despite loss of market exclusivity and availability of generics, company ethos and persuasion was successful in Sobi joining the consortium |
Regulatory acceptance of clinical development | EMA engagement for advice on planned study |
Building consortium | Strong record of working well already and reliable personal contacts |
Funding | Grant application to the EC; nitisinone provided free of change by Sobi |