The National Institute of Neurological Disorders and Stroke (NINDS) has made significant contributions to research on lipid storage diseases and their treatment. NINDS researchers were responsible for developing effective enzyme replacement therapies for Gaucher and Fabry diseases. NINDS-funded scientists continue to study how lipids accumulate in cells and why they cause harm to the body. Researchers hope to develop new treatments, including gene- and cell-based therapies.
The NINDS, along with other Institutes and Centers of the National Institutes of Health, supports the Lysosomal Disease Network, a network of centers that address some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases.
Information from the National Library of Medicine’s MedlinePlus
Lipid storage diseases are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various tissues and cells in the body. Lipids are important parts of the myelin sheath that coats and protects the nerves. Over time, this excessive storage of fats can cause permanent damage to cells and tissues in the brain and peripheral nervous system, and in other parts of the body. Symptoms may appear early in life or develop in the teen or even adult years. Neurological complications of the lipid storage diseases may include:
- lack of muscle coordination,
- brain degeneration,
- loss of muscle tone,
- learning problems,
- feeding and swallowing difficulties,
- slurred speech,
- increased sensitivity to touch,
- pain in the arms and legs, and
- clouding of the cornea.
Currently there is no specific treatment available for most of the lipid storage diseases. Enzyme replacement therapy is available for Gaucher and Fabry diseases. The U.S. Food and Drug Administration has approved migalastat (Galafold) as an oral drug to treat adults with Fabry disease who have a certain genetic mutation. Antiplatelet drugs used to treat stroke can slow the decline of kidney function seen in Fabry disease. Medications may be prescribed to help treat pain.
The prognosis for a lipid storage disorder is determined by the type of disease, the age of onset, and the severity of symptoms. Children treated for some forms of Gaucher disease may live well into adulthood, while children with Niemann-Pick disease often die at a young age from infection or progressive neurological loss. Children with Fabry disease often die prematurely of complications from heart disease, renal failure, or stroke. Most children with Farber’s disease die by age 2, usually from lung disease. Children with Tay-Sachs and Sandhoff diseases often die at an early age from recurring or respiratory infection.