The story of NP-C began with Irene.
Irene was a 17-month-old girl admitted for treatment in a Berlin Children’s Hospital. She had a swollen abdomen (stomach area) and was in a “quite miserable nutritional state”.
Albert Niemann was a German intern at the hospital. He had never seen a case like Irene’s in his studies and was at a loss for what it could be. He tried treating her for syphilis but unfortunately, she did not respond and sadly, passed away in 1914.
Niemann published a case report, detailing Irene’s condition. This was later picked up by German pathologist, Ludwig Pick who was curious about this mystery fatal condition. After years of study, he was able to explain that the condition was caused by a problem in Irene’s metabolism (the body’s ability to break down organic material).
The term ‘Niemann-Pick’ (NP) was first used in the literature for the diagnosis of a 17-month-old boy in 1926, 12 years after Irene's case.
Due to the wide range of ages and symptoms in people living with NP, scientists thought they were all separate forms of the same condition. It wasn’t until the 1980s that scientists were able to explain that there were two different causes, and therefore two different conditions that were previously thought to be the one ‘Niemann-Pick Disease’. These separate conditions are known as NP-C and Acid sphingomyelinase deficiency (ASMD). ASMD used to be known as NP-A and NP-B but now they are referred to a singular condition.
In 2023, over a hundred years since the case of Irene, we now have access to clinical trial medications that can help to treat NP-C.
There is also the hope that gene therapy, a treatment that can change the expression of important genes, could be the next major step in treating this disease.
This therapy is complex, however, five different laboratories across the world have published papers that show that it could be a promising and effective treatment for NP-C.
Gene therapy has already been used to treat Spinal Muscular Atrophy (SMA), a rare inherited condition that causes muscle weakness and can be fatal. The treatment, Spinraza, is now publicly funded in Australia.
We can hope that with more time, gene therapies will progress to clinical trials for the treatment of NP-C as well. For those interested, I will write a future blog to help explain what this therapy may involve.
Overall, NP-C research has come a long way for a condition that is so rare and severe. Now, there is hope with the INPDR patient registry and developing technologies that research will find better outcomes for those living with NP-C.
The hope is that one day, children like 17-month-old Irene, the first NP-C patient, will be able to access a treatment that can maximise their ability to have a long and healthy life.
Stay supportive and supported,