How Do You Stop Niemann Pick Disease From Spreading?
There is no effective cure for Niemann Pick disease. There is no treatment which can stop the disease from progression. The treatment aims to manage the symptoms. The progression of the disease varies from patient to patient and the condition worsens with time.
Niemann Pick disease is a genetic condition and caused due to a mutation in SMPD1 and NPC 1 genes. The disease is characterized by a problem in the metabolism of lipids. This results in the accumulation of lipids leading to various symptoms. The condition is progressive with mild symptoms at the initial stage and as the child ages, the symptoms become more severe. There is currently no cure for Niemann Pick disease and the treatment aims to manage the symptoms and to improve the quality of life of the patients.
In the beginning, during infancy, the child is healthy and does not show symptoms of this fatal disease. Jaundice and speaking difficulties are the primary symptoms in some patients. The condition is generally diagnosed after the patients show the sign of splenomegaly and hepatomegaly.
The condition starts affecting vital organs such as the brain, lungs, gastrointestinal system and ultimately leads to death. As the child gets older, he is not able to balance himself properly. The severity of imbalance increases resulting in increased fall. Brain degeneration due to lipid accumulation leads to seizures and reduced intellectual capability. Frequency of seizures increases with time. In one patient, the frequency of seizures was 18-20 times per day.1 In the later stage of the disease, the patient may not be able to swallow the food and is completely on tube feeding. Some patients lost sight and require a tracheotomy.
Treatment Of Niemann Pick Disease
Niemann Pick disease is non-curable. There is no known treatment which prevents the progression of the disease. Type A and Type B are the most fatal among various types of Niemann Pick disease and there are no treatment measures. Fortunately, drugs provide some respite in the symptoms of type C Niemann Pick disease. Various treatment strategies are adopted to improve the quality of life. Following are some of those treatments:
- Miglustat: Miglustat is the drug used to manage the neurological symptoms of Niemann Pick disease. In a study comprising 92 patients of the disease, the drug has a positive impact on the neurological symptoms when taken for about 2 years.2
- Physical Therapy: Patients with Niemann Pick disease have poor balance, gait, and coordination. As the disease progresses, the mobility becomes difficult. Physical therapy is important to keep the patient mobile as long as possible. Chest physical therapy should be done to avoid bronchoconstriction.
- Bone Marrow Transplantation: Bone marrow transplantation found to be effective in at least one patient suffering from Niemann Pick Disease. The allogenic bone marrow transplantation was done in an 18 -month old boy. The patient’s condition was improved after bone marrow transplantation and was able to achieve developmental milestones afterwards.3
- Enzyme Replacement Therapy: This therapy is currently under trial and may show a promising result in the studies. In 2015, USFDA granted to olipudase alfa the breakthrough therapy designation.4
- Antibiotics: Dysphagia may result in recurrent infection of lungs due to fluid and food going into the lungs. Antibiotics are prescribed to prevent the infection.
- Sedative: As the condition may disturb sleep cycle, nocturnal sedatives are prescribed to the patients to improve sleep.
- Regular Bowel Program: Because of the poor muscle tone in these patients, constipation is a common symptom. To manage constipation, regular bowel program is incorporated in the treatment strategy.
- Surgery: To increase life expectancy, various surgical procedures such as gastrotomy and tracheotomy can be done.
Type A, B, and C of Niemann Pick diseases have varying severity and fatality with different life expectancy. At present, there is no treatment to stop the spreading of disease. However, various treatment strategies are under clinical trial which may be able to show promising results in the future.