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Niemann-Pick Disease: Types, Symptoms and Treatment in India
Niemann-Pick disease is a group of rare inherited disorders in which fats build up in the spleen, liver, lungs and, in some types, the brain. New treatments have recently been approved for some types.
Key facts
Cause
Deficiency of acid sphingomyelinase (types A and B) or faulty NPC1 or NPC2 proteins (type C)
Inheritance
Autosomal recessive
Mainly affects
Spleen, liver, lungs and, in types A and C, the brain
Age of onset
From infancy to adulthood, depending on the type
Treatment
ERT for the body symptoms of types A and B; medicines and supportive care for type C
On this page:
Overview
What is Niemann-Pick disease?
Niemann-Pick disease is the name for a group of rare genetic disorders that affect how the body handles fats, such as sphingomyelin and cholesterol, inside cells.
Doctors now see it as two different diseases. Types A and B are caused by a deficiency of the enzyme acid sphingomyelinase, and are also called acid sphingomyelinase deficiency (ASMD). Type C is caused by faulty NPC1 or NPC2 proteins, which move cholesterol and other fats within cells.
In all types, fats build up in organs such as the spleen, liver and lungs. In type A and type C they also damage the brain, causing progressive neurological problems.
Video: Niemann-Pick disease types A and B explained (credit: Osmosis)
Niemann-Pick disease in India
Niemann-Pick disease is very rare worldwide. ASMD is estimated to affect about 1 in 250,000 people, and Niemann-Pick type C about 1 in 100,000 to 150,000 births. In India, both are thought to be underdiagnosed.
An enlarged spleen and liver in a child is often first investigated for infections or blood disorders. Niemann-Pick disease, like Gaucher disease, should be considered when these signs have no other clear cause, especially if there are also lung or neurological problems.
Did you know?
Niemann-Pick types A and B now have an approved enzyme replacement therapy.
Olipudase alfa treats the effects of ASMD on the spleen, liver and lungs. Several new medicines have also been approved abroad for type C.
Types of Niemann-Pick disease
The types differ in their cause, the age at which they start and whether they affect the brain.
Type A (infantile neurovisceral ASMD)
The most severe form. It begins in the first months of life with an enlarged liver and spleen, feeding problems and poor growth, followed by a rapid loss of skills. A cherry-red spot may be seen at the back of the eye. Most children do not survive beyond early childhood.
Type A/B (chronic neurovisceral ASMD)
An intermediate form. It affects the liver, spleen and lungs like type B, with neurological problems that begin later and progress more slowly than in type A.
Type B (chronic visceral ASMD)
Usually begins in childhood. It causes an enlarged liver and spleen, lung disease, low platelets, high cholesterol and slow growth, with little or no effect on the brain. Many people live into adulthood.
Type C (NPC)
Can start at any age, from before birth to adulthood. Babies may have jaundice or an enlarged liver and spleen. Later it causes clumsiness, difficulty moving the eyes up and down, slurred speech, swallowing problems, seizures, and learning or psychiatric difficulties.
Signs and symptoms
Symptoms of Niemann-Pick disease
Symptoms depend on the type and the age at which it begins. Common signs include:
- An enlarged spleen and liver, causing a swollen abdomen
- Prolonged jaundice in newborn babies (type C)
- Breathlessness and frequent chest infections from lung involvement
- Low platelets, easy bruising and slow growth
- Clumsiness, unsteady walking and difficulty looking up or down (type C)
- Slurred speech, swallowing difficulty, seizures, or sudden loss of muscle tone when laughing (cataplexy)
When to see a doctor
Consult a doctor, ideally a geneticist, paediatric neurologist or liver specialist, if you or your child has:
- An enlarged spleen or liver with no clear cause
- Developmental delay or loss of skills already learned
- Clumsiness, falls or difficulty moving the eyes
- Learning or behaviour changes along with any of these signs
In teenagers and adults, Niemann-Pick type C can first appear as psychiatric symptoms or memory problems.
Causes
What causes Niemann-Pick disease?
Types A and B are caused by changes (mutations) in the SMPD1 gene, which makes the enzyme acid sphingomyelinase. Without enough of this enzyme, a fat called sphingomyelin builds up in cells.
Type C is caused by changes in the NPC1 gene (in about 95% of patients) or the NPC2 gene. These genes make proteins that move cholesterol and other fats out of lysosomes. When they do not work, the fats become trapped and damage the liver, spleen and brain.
How it is inherited
- It is inherited in an autosomal recessive pattern.
- Parents of an affected child are usually healthy carriers of one faulty copy of the gene.
- When both parents are carriers, each pregnancy has a 1 in 4 (25%) chance of an affected child.
- Genetic counselling and carrier testing can help families understand their risk and plan.
How is Niemann-Pick disease diagnosed?
Diagnosis has become simpler and more reliable in recent years, and a biopsy is rarely needed.
01
Enzyme test (types A and B)
A blood test, often on a dried blood spot, measures acid sphingomyelinase activity. Low activity confirms ASMD.
02
Biomarker tests (type C)
Blood tests for specific substances, such as oxysterols, lysosphingomyelin-509 or certain bile acids, can point to Niemann-Pick type C.
03
Genetic test
Confirms changes in the SMPD1, NPC1 or NPC2 gene. It also helps test family members and plan future pregnancies.
04
Organ and nerve assessments
Ultrasound or MRI of the abdomen, lung scans and breathing tests, an eye-movement examination and brain MRI show how the disease is affecting the body.
Treatment for Niemann-Pick disease
There is no cure yet, but treatment can now help many patients. The options depend on the type.
Types A and B: enzyme replacement therapy
Olipudase alfa replaces the missing enzyme through an intravenous infusion every two weeks. It reduces the size of the spleen and liver and improves lung function, but it does not treat the effects of type A on the brain.
Medicines include
- Olipudase alfa (Xenpozyme®)
Type C: medicines
These medicines aim to slow the neurological problems of type C. Their approval and availability differ between countries, and they may be difficult to obtain in India.
Medicines include
- Miglustat (Zavesca®)
- Arimoclomol (Miplyffa®), taken with miglustat
- Levacetylleucine (Aqneursa®)
Supportive and long-term care
A team of specialists helps manage symptoms and keep patients comfortable.
This can include
- Physiotherapy and occupational therapy
- Speech and swallowing therapy, and nutrition support
- Medicines for seizures, cataplexy and sleep problems
- Breathing support and treatment of chest infections
Some older sources describe types D, E and F. These names are no longer used; type D, for example, is now known to be a form of type C. To find clinical trials for Niemann-Pick disease in India, visit ClinicalTrials.gov.
Clinical trials and studies in India
Studies of Niemann-Pick disease that are recruiting, or about to recruit, in India. This list updates automatically every day.
- A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease (NPC)Sites in India: Ernākulam, New Delhi, Jaipur, Vellore
- A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease, GM1 Gangliosidosis or GM2 GangliosidosisSites in India: Ernākulam, New Delhi, Jaipur, Vellore
Last checked 10 November 2026 on ClinicalTrials.gov. Always talk to your doctor before joining a study.
Accessing treatment in India
Getting treatment and financial support
Treatment for Niemann-Pick disease can be very expensive, and some medicines are not yet easily available in India. These are the main sources of help.
Government support (NPRD)
The National Policy for Rare Diseases provides financial assistance of up to ₹50 lakh to eligible patients with listed rare diseases, for treatment at a designated Centre of Excellence (COE). Ask your COE whether your diagnosis and treatment plan qualify.
- Visit your nearest COE with all medical reports
- Assistance is subject to approval
- Not every treatment may be covered
Other sources of help
- State government schemes
- Corporate social responsibility (CSR) funding
- Crowdfunding through the government rare disease portal
- Clinical trials, where available
How LSDSS helps
- Connects patients with COEs and specialists
- Guides families through funding applications
- Shares updates on support programmes
- Brings patients and caregivers together
Frequently asked questions
Answers to common questions about Niemann-Pick disease.
Still have a question?
A group of rare inherited disorders in which fats such as sphingomyelin and cholesterol build up in the cells of the spleen, liver, lungs and, in some types, the brain.
There are two main groups. Acid sphingomyelinase deficiency (ASMD) includes type A, which is severe and affects the brain in infancy, type B, which mainly affects the organs, and an intermediate type A/B. Niemann-Pick type C is a separate disease that can start at any age and mainly affects the brain, liver and spleen.
It is inherited in an autosomal recessive pattern. A child is affected when both parents pass on a faulty copy of the same gene. Parents who are carriers usually have no symptoms. It is not infectious.
It depends on the type. Children with type A usually do not survive beyond early childhood. Many people with type B live into adulthood. In type C, life expectancy varies with the age at which neurological symptoms start: the earlier they begin, the faster the disease tends to progress, while some people with later onset live well into adulthood.
Not yet. Enzyme replacement therapy (olipudase alfa) treats the body symptoms of types A and B, and several medicines are approved in some countries to slow the progress of type C. Supportive care helps manage symptoms.
Niemann-Pick type C is a serious, progressive disease that often shortens life. However, its course varies a lot. People whose symptoms start in adolescence or adulthood often progress more slowly, and treatment and good supportive care can help.
First, visit your nearest Centre of Excellence (COE) with all medical reports to be evaluated. Second, register with LSDSS for support and the latest information on treatment and clinical trials.
Other lysosomal storage disorders
LSDSS supports patients and families living with all lysosomal storage disorders.
A fatty substance builds up in nerve cells of the brain and spinal cord.
Sulfatides build up and damage the protective covering of nerves.
A fatty substance builds up in nerve cells and, in babies, in other organs and bones.
Waste material builds up in nerve cells, causing seizures and loss of vision.
Living with Niemann-Pick disease?
Register with LSDSS for treatment guidance, support and the latest updates. You are not alone.
This page is for general information and awareness only. It does not replace advice from a qualified doctor. Last reviewed: November 2026.