Rare diseases

At Santhera, we are passionate about providing treatment options for patients with rare diseases, specifically in the area of neuro-ophthalmological, neuromuscular and pulmonary conditions – diseases that have a severe impact on the lives of affected children and adults.

About mitochondrial diseases

At Santhera, we focus on providing treatment options for disorders that have a severe impact on the lives of the children and adults affected by them.

For more than a decade, we have been committed to advancing research in the field of mitochondrial diseases and are working to offer hope to the many thousands of patients for whom treatment options have been lacking.

Mitochondria are found within virtually every cell of the body and generate energy required by the cells to function.1–4

Mitochondrial Diseases - Research, Symptoms, Treatment

Mitochondrial diseases are often a result of inherited genetic mutations1,3 and typically affect organs with high energy requirements, such as the brain, muscles, eye, ear, heart, liver and the gastrointestinal tract.2–4 When mitochondria do not produce enough energy, cells within the organ do not function properly, become damaged and eventually die, resulting in the symptoms typically seen in these diseases.1–4

Mitochondrial Disfunction
Mitochondrial Disorders

We are proud that, thanks to our development efforts, Raxone (idebenone) – the first pharmaceutical product for a mitochondrial disorder – was approved in the European Union in September 2015 for the treatment of patients with Leber’s hereditary optic neuropathy (LHON).

Our research

Our research on therapies in rare diseases is currently focused on developing treatment options for:


  • Leber’s hereditary optic neuropathy (LHON) is a severe mitochondrial disease leading to central vision loss in both eyes. People living with LHON will often find it impossible to read, drive or recognize faces. Learn more


  • Duchenne muscular dystrophy (DMD) is one of the most common and devastating types of muscular degeneration and results in progressive muscle weakness, starting at an early age. Learn more
  • Congenital muscular dystrophy (CMD) is a group of inherited neuromuscular condisions that causes progressive and potentially life-threatening muscle weakness, affecting frequently newborns and children. Learn more


  • Cystic fibrosis (CF) is a rare, hereditary, life-threatening, progressive disease characterized by persistent lung infection and chronic inflammation thereby limiting the ability to breathe over time.