Rare Diseases
In the EU, a disease is considered to be a rare disease when the number of people affected is no more than 5 person in 10,000.i Ipsen is committed to translating scientific progress into clinically meaningful medicines for people suffering from rare conditions.
iEuropean Union: EU Research on Rare Diseases. Accessed June 2025.
Addressing areas of unmet need
Ipsen’s work in rare diseases currently focuses on how we can address areas of high unmet need for people affected by hormone and metabolic imbalances and rare liver disorders. We strive to understand the challenges faced by those living with rare diseases, learning from their experiences and integrating their insights into our efforts throughout the development process.
Areas we work in within rare diseases
Ipsen continues to develop innovative medicines in rare diseases to address conditions with high unmet needs, with specific investment in pituitary pathologies and liver disorders.
Acromegaly is a rare condition caused by excess production of growth hormone by the pituitary gland, resulting in body tissues and bones growing more quickly.i
About 2–4 people in a million develop acromegaly each year in the U.K.ii The condition can cause a wide range of symptoms, however acromegaly literally means ‘enlarged extremities’ with large hands and feet a typical feature, however there are many other symptoms which usually progress slowly over time, including thickened vocal cords, facial changes (e.g. thickened lips and nose) and enlarged tongue.ii
iNHS: Acromegaly. Accessed June 2025.
iiPayne J.: Acromegaly. Accessed June 2025.
Precocious puberty refers to the onset of puberty at an abnormally early age; before age 8 in girls, and 9 in boys.i It is not always clear what causes early puberty, however it can be a familial tendency.i
Medical treatment for early puberty aims to address any underlying cause or reduce hormone levels to pause sexual development for a few years to avoid emotional or physical issues.i
iNHS: Early or Delayed Puberty. Accessed June 2025.
Progressive familial intrahepaftic cholestasis (PFIC) is a rare inherited condition in which bile is unable to drain from the liver into the gastrointestinal tract.i As a result, bile acid builds up in liver cells (cholestasis) causing scaring and symptoms.i The global prevalence of PFIC is estimated between 1 in 50,000 to 1 in 100,000 live births.i
The most bothersome symptom of PFIC is pruritus (itching), which may be so severe that it leads to skin mutilation, loss of sleep, irritability, poor attention and impaired school performance.ii
iNICE Guidance HST17: 2. The Condition. Accessed June 2025.
iiSrivastava A. J Clin Exp Hepatol. 2014;4( 1 ):25–36.
ALLSC-GB-000880
October 2025