Niemann-Pick type C (NPC)

Niemann-Pick type C is a lysosomal storage disease and caused by a genetic defect that results in lysosomal lipid transporters not functioning.Thus, lipids accumulate in the lysosomes of cells, leading to long-term lysosomal cell death. Particularly affected are the liver, spleen and brain which become irreversibly damaged over time.

Unfortunately, NPC is not curable. Currently, there is only one disease-specific therapy, which, however, has significant side effects and can only delay the course of the disease, but not stop it. The development of new drugs that target the disease at its source is urgently needed to provide patients with a better prognosis.

In most cases, NPC manifests itself in childhood and is almost always fatal. The earlier the first symptoms of the disease appear, the faster the disease progresses and in turn life expectancy decreases. For example, children diagnosed in infancy have a life expectancy of only five years, while late infantile children can reach the age of 12. Only about a quarter of patients even reach adulthood.

The disease is characterized by neurodegenerative symptoms, which can be found in varying degrees in all age groups. Children are severely impaired in their psychomotor development, so that abilities such as walking, fine motor skills or speech develop only very slowly and even regress as the neurological damage progresses. Epileptic seizures, spasticity, cataplexy and dysphagia also occur, severely affecting the children's quality of life. About half of these children require a wheelchair at some stage of their disease, and many are dependent on full-time care. Independent, unassisted daily living is not possible for these children. In adolescents, cognitive impairments such as speech and learning difficulties often appear as typical initial symptoms. The broad spectrum of symptoms makes the diagnosis of NPC very difficult. Despite the clear genetic diagnosis in most cases, it usually takes more than five years until a correct diagnosis can be made; precious years in which the disease progresses irreversibly. One of the biggest hurdles to diagnosis is the fact that NPC is virtually unknown to physicians due to its rarity and therefore the suspected diagnosis is usually made late.

SKC consulting contributes with this blog to making NPC better known so that more patients can be diagnosed more quickly in the future and thus receive treatment more quickly.

Sources:

• Orpha.net: Niemann-Pick type C
• Niemann Pick Selbsthilfegruppe