Excellence in Rare Diseases or Orphan Drugs

Summary of work

Primary haemophagocytic lymphohistiocytosis (HLH), which typically develops within the first year of life, is an ultra-rare syndrome of hyperinflammation where an overexpression of interferon gamma (IFNγ) can cause the immune system to attack the body. If left untreated, primary HLH can be fatal.

Gamifant® (emapalumab-lzsg) – the first and only medicine approved in the US to treat patients with primary HLH – is a critical advancement for patients with high mortality. Approved by the US FDA in late 2018, Gamifant’s targeted treatment approach can be used to bring hyperinflammatory emergencies under control and prepare patients for a haematopoietic stem cell transplant (HSCT).

Today, Sobi remains committed to raising awareness of primary HLH and its symptoms, and continues to lead and execute healthcare provider, advocacy and caregiver initiatives and programmes.

Judges' comments

This entry was particularly well-structured and there was a real sense of difference within the initiative. They really identified the unmet needs of patients and families with Primary HLH.