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How is Niemann-Pick type C disease managed?

Niemann-Pick type C disease (NP-C) is a progressive disease, meaning that symptoms become worse with time and eventually, can lead to premature death. Currently, there is no cure, therefore treatment is aimed at slowing down progression of the disease and trying to preserve function and quality of life.1 Early, correct diagnosis of NP-C is extremely important as it allows prompt access to treatment. This can help maintain function and quality of life for as long as possible.1

Management of NP-C involves the use of symptomatic and disease-specific therapies depending on the symptoms present and the status of the disease.1

Symptomatic treatment

Symptomatic therapies do not affect the progression of the disease but they can improve quality of life (see Table 1). These include:1



In addition, some patients benefit from physical therapy to improve their movement restrictions or a feeding tube to help overcome feeding problems caused by swallowing difficulties.


Table 1: Medicines used to manage NP-C symptoms1

Tricyclic antidepressants2 They alter the balance of some of the chemicals in the brain, neurotransmitters known as serotonin and norepinephrine, and can reduce symptoms of irritability and anger. They can also reduce episodes of sudden muscle weakness brought on by laughter (cataplexy).
 
CNS stimulants3 They increase the activity of two chemicals in the brain; neurotransmitters known as norepinephrine and dopamine and can reduce sleepiness as well as help with lack of attention and hyperactivity.
 
Anti-cholinergic drugs They block the transmission of nerve impulses and reduce muscle spasms.
 
Anti-epileptic drugs (anticonvulsant medicines) They act on the brain to reduce the frequency and severity of seizures.
 
Anti-psychotic drugs2 They block the effect of a chemical, dopamine, which transmits messages in the brain. They can reduce feelings of anxiety or aggression as well as hallucinations or delusional thoughts.
 
Anti-propulsive agents2 They control the unpleasant symptoms of diarrhea. They work by slowing down the action of the gut.

 

Since NP-C is a progressive disease, for which there is no cure, delaying disease progression and preserving function and quality of life are the primary treatment goals.1 This may improve the outlook for patients and their families.

 

Disease-specific therapies

Advances in the understanding of NP-C have led to the development of a NP-C specific treatment that can slow down progression of the disease.1 This medicine, known as a glycosphingolipid synthesis inhibitor, was approved for use in the European Union in January 2009. It helps to prevent the build-up of fatty molecules caused by the improper functioning of the protein responsible for their movement and storage. It has been shown that this medicine can improve or stabilize key parameters of progressive neurological disease in children, juveniles and adult NP-C patients.1 This medicine is licensed and available across 43 countries, including the EU, but is not yet licensed for NP-C in the United States.

 

A quick diagnosis allowed early treatment of NP-C

Jane* first showed symptoms of NP-C when she was eight years old. She had difficulty walking which prompted her parents to visit an orthopedic surgeon. Although she was diagnosed with mononucleosis (glandular fever), her parents were not convinced that this was the problem and asked to see a neurologist, who noticed a problem with her gaze and sought confirmation of NP-C.

Jane was diagnosed very quickly and, as a result, was able to receive treatment for the various symptoms as they developed. She is now 21 and her disease has progressed slowly since diagnosis and is receiving a specific NP-C treatment. Jane’s parents believe that their daughter’s early diagnosis was extremely beneficial in terms of accessing treatment.

It was such a relief to find out fast that Jane was suffering from Niemann-Pick type C disease. It meant that she was able to get the right treatment quickly and it’s given us a clear pathway of how her disease should be managed. As a parent there is nothing worse than seeing your child suffer and there is nothing you can do because you don’t know what is wrong with them.

* Patient name has been changed for confidentiality reasons

 

References

  1. Patterson MC, Hendriksz CJ, Walterfang M, et al, on behalf of the NP-C Guidelines Working Group. Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update. Mol Genet Metab 2012. 106(3):330-344.
  2. NHS Choices, http://www.nhs.uk/Pages/HomePage.aspx Last accessed September 2012.
  3. Healthline, http://www.healthline.com Last accessed September 2012.