Lipid Storage Diseases

What are lipid storage diseases?

Lipid storage diseases (also known as lipidoses) are a group of inherited metabolic disorders in which harmful amounts of fatty materials (called lipids) build up in various cells and tissues in the body. This can happen because people with these disorders may not make enough of enzymes needed to metabolize (break down) lipids or because they make enzymes that do not work properly. Over time, storing too many lipids inside cells can cause permanent damage to cells and tissues, especially in the brain, peripheral nervous system, liver, spleen, heart, and bone marrow. One type of lipid storage disease, Niemann-Pick disease Type C, happens in people who cannot properly break down cholesterol and other lipids, which leads to too much cholesterol in the liver and spleen and too much of other lipids in the brain. People with Niemann-Pick disease Type C1 have a defect that prevents cholesterol from moving between brain cells.

Lipids

Lipids are fat-like substances in the membranes found within and between cells and in the myelin sheath that coats and protects the nerves. Lipids include oils, fatty acids, waxes, steroids (e.g., cholesterol and estrogen), and other related compounds. These fatty materials are stored naturally in the body's cells, organs, and tissues.

Tiny bodies within cells called lysosomes regularly convert, or metabolize, the lipids and proteins into smaller components to provide energy for the body. Disorders in which material that cannot be metabolized is stored in lysosomes are called lysosomal storage diseases. Lipid storage diseases are one of several types of lysosomal storage diseases in which excessive amounts of lipids are stored in the cells and tissues.

Types of lipid storage diseases

Gaucher disease

Gaucher disease is caused by a lack of the enzyme glucocerebrosidase. In Gaucher disease, fatty material collects in the brain, spleen, liver, kidneys, lungs, and bone marrow. Symptoms may include:

• Brain damage
• Enlarged spleen and liver
• Liver problems
• Seizures
• Eye movement disorders
• Poor coordination
• Breathing problems
• Blood disorders
• Skeletal disorders and bone lesions that may cause pain and fractures
• Swollen abdomen
• Swelling of lymph nodes and occasionally nearby joints
• Feel fatigued due to anemia 
• Bruising easily due to low blood cells (platelets)
• Yellow spots in the eyes

People with Gaucher disease may also be more likely to get infections. People with Gaucher disease and carriers of the disease have an increased risk of developing Parkinson’s disease and related disorders. Gaucher disease affects certain populations, such as the Ashkenazi Jewish population, at higher rates. 

There are three common types of Gaucher disease:

• Type 1 (nonneuronopathic type) most often does not affect the brain, but people with this disorder often have lung damage and sometimes kidney problems and an enlarged liver and spleen. Type 1 is the most common form of the disease in the U.S. and Europe.
• Type 2 (acute infantile neuropathic Gaucher disease), which causes severe brain damage, typically begins within three months of birth. Children with Type 2 usually die before age 2. 
• Type 3 (chronic neuronopathic form) can begin at any time in childhood or even in adulthood. People will Type 3 may have an enlarged liver and spleen and usually have neurologic symptoms, such as seizures and cognitive decline that are milder than those seen in Type 2 and progress slowly. People with Gaucher disease Type 3 may have a shortened life expectancy. Type 3 is the most common form of the disease worldwide but is less common in the U.S. than Type 1. 

Niemann-Pick disease 

Niemann-Pick disease is a group of autosomal recessive disorders (both parents must carry and pass on the defective gene for the person to have the disorder) caused by a buildup of fat and cholesterol in cells of the liver, spleen, bone marrow, lungs, and sometimes the brain. Children usually die from infection or progressive neurological loss. Symptoms may include:

• Lack of muscle coordination (ataxia)
• Progressive loss of motor skills
• Eye paralysis
• Brain degeneration
• Learning problems
• Stiff or rigid muscles (spasticity)
• Feeding and swallowing problems
• Slurred speech
• Abdominal (belly area) swelling
• Loss of muscle tone
• Hypersensitivity to touch
• Clouding in the eyes 

Young children with Niemann-Pick disease Type A may have a cherry-red halo around the center of the retina (the layer of tissue at the back of the eyeball). This halo can be seen by a doctor using a special tool.

Niemann-Pick disease is divided into three categories:

• Type A, the most severe form, begins in early infancy and occurs more often in the Ashkenazi (Eastern European) Jewish population. Abdominal (belly) swelling may occur within 3 to 6 months. By six months, infants develop severe brain damage, an enlarged liver and spleen, a cherry red spot at the back of the eye (retina), swollen lymph nodes, and nodes under the skin (xanthomas). Children with this type rarely live beyond 18 months. 
• Type B, juvenile onset, does not generally affect the brain itself, but most children develop ataxia, damage to nerves exiting from the spinal cord (peripheral neuropathy), and lung problems that progress with age. Abdominal swelling may occur in young children. During the teen years, people with Type B often develop an enlarged liver and spleen. Compared to children with Type A, children with Type B live longer, but they may need to use oxygen over time due to lung problems. 
• Type C may appear early in life or develop in the teen or even adult years and occurs more often among Puerto Ricans of Spanish descent. People with Type C may have severe brain damage, which can lead to an inability to look up and down, problems walking and swallowing, progressive hearing and vision loss, learning problems, behavioral challenges, and dementia. Symptoms also include jaundice at or following birth, seizures, slurred speech, sudden loss of muscle tone leading to falls, tremors, and an enlarged liver and spleen. Depending on severity, some individuals with Type C die in childhood while others live into adulthood.  

Niemann-Pick Types A and B result from buildup of the fatty substance called sphingomyelin, due to lack of an enzyme called acid sphingomyelinase (ASM). Niemann-Pick disease Type C is not caused by a lack of ASM, but when a person is unable to break down cholesterol and other lipids. Type C1 is a variant of Type C that causes a defect which disrupts how cholesterol moves between brain cells. It only occurs in French Canadian people in Yarmouth County, Nova Scotia. 

Fabry disease 

Fabry disease (also known as alpha-galactosidase-A deficiency) causes a buildup of fatty material (globotriaosylceramide) leading to dysfunction of cells in the body. Fabry disease is the only X-linked lipid storage disease, meaning it primarily affects boys and men, although a milder and more variable form can occur in women and girls. Rarely, women may have severe symptoms similar to those seen in men with the disorder. Onset of symptoms is usually during childhood or the teen years. Symptoms include:

• Burning pain in the arms and legs, which worsens in hot weather or following exercise (peripheral neuropathy)
• Buildup of excess material in the clear layers of the cornea, resulting in clouding but no change in vision
• Ringing in the ears (tinnitus)
• Hearing loss
• Increased risk of stroke or heart attack due to fat storage in the walls of the blood vessels. 
• Enlarged heart 
• Cardiac arrhythmias
• Progressive kidney damage leading to renal failure
• Gastrointestinal problems
• Decreased sweating
• Fever
• Angiokeratomas (small, non-cancerous, reddish-purple bumps on the skin) may develop on the lower part of a person’s torso and become more numerous with age.

Farber’s disease 

Farber's disease (also known as Farber's lipogranulomatosis) describes a group of rare autosomal recessive disorders that cause a buildup of fatty material in the joints, tissues, and nervous system. Farber's disease is caused by a lack of the enzyme called ceramidase. The disease affects both men and women. Disease onset is typically in early infancy but may occur later in life. Children who have the classic form of Farber's disease develop neurological symptoms within the first few weeks of life that may include increased lethargy and sleepiness, moderately impaired cognitive ability, and problems with swallowing. The liver, heart, and kidneys may also be affected. Other symptoms may include:

• Joint contractures (chronic shortening of muscles or tendons around joints)
• Vomiting
• Arthritis
• Swollen lymph nodes
• Swollen joints
• Hoarseness
• Nodes under the skin which thicken around joints as the disease progresses

Some people with Farber’s disease may need a breathing tube. Most children with the classic form die by age 2, usually from lung disease. In one of the most severe forms of the disease, an enlarged liver and spleen can be diagnosed soon after birth. Children born with this form of the disease usually die within six months.

The gangliosidoses

The gangliosidoses include two distinct groups of genetic diseases, GM1 and GM2. Both are autosomal recessive.

GM1 Gangliosidoses

GM1 gangliosidoses are caused by a lack of the enzyme beta-galactosidase, resulting in abnormal storage of acidic lipids, particularly in the central and peripheral nervous systems. There are three clinical types of GM1 gangliosidoses:

• Early infantile GM1 is the most severe, with onset shortly after birth. Children may be deaf and blind by age 1 and often die by age 3 from heart complications or pneumonia. About half of affected people develop cherry-red spots in the eye. Symptoms may include:
  • Neurodegeneration
  • Seizures
  • Enlarged liver and spleen
  • Coarsening of facial features (short nose, flat face, and a large head)
  • Skeletal irregularities
  • Joint stiffness
  • Swollen abdomen
  • Weak muscles
  • Exaggerated startle response
  • Problems with walking
     
• Late infantile GM1 gangliosidosis typically begins between ages 1 and 3. Symptoms include:
  • Ataxia
  • Seizures
  • Dementia
  • Speech problems
     
• Adult GM1 develops between ages 3 and 30 and is usually less severe and progresses more slowly than other forms of the disorder. Symptoms include:
  • Decreased muscle mass (muscle atrophy),
  • Neurological complications that are less severe and progress at a slower rate than in other forms of the disorder
  • Clouding in the eyes
  • Dystonia (sustained muscle contractions that case twisting and repetitive movements or abnormal postures) 
  • Angiokeratomas may develop on the lower part of the trunk of the body.

GM2 Gangliosidoses 

GM2 gangliosidoses also cause the body to store too much acidic fatty materials in tissues and cells, most notably in nerve cells. These disorders are caused by a lack of the enzyme beta-hexosaminidase. The GM2 disorders include Tay-Sachs disease and Sandhoff disease.

Tay-Sachs disease (also known as GM2 gangliosidosis-variant B) and its variant forms are caused by a lack of the enzyme hexosaminidase A. Tay-Sachs disease is most common among Eastern European and Ashkenazi Jewish populations, as well as certain French Canadians and Louisiana Cajuns (also known as Louisiana Acadians). A blood test that measures hexosaminidase A activity can identify carriers and people with Tay-Sachs disease. Affected children appear to develop without a problem until about six months of age and then begin to show neurological symptoms, including: 

• Slowing of development
• Progressive loss of mental ability
• Dementia
• Decreased eye contact
• Increased startle reflex in response to noise
• Progressive hearing loss leading to deafness
• Difficulty swallowing
• Blindness
• Cherry-red spots in the retina
• Some paralysis

Seizures may begin at age 2 and children may eventually need a feeding tube. A rare form of the disorder, called late-onset Tay-Sachs disease, occurs in people in their 20s and early 30s and is characterized by unsteady gait (walking) and progressive neurological deterioration. 

• Sandhoff disease (variant AB) is a severe form of Tay-Sachs disease and is caused by deficiency of the enzyme beta-hexosaminidase. Sandhoff disease usually occurs at age 6 months and affects all racial and ethnic groups. Death usually occurs by age 3, most often from respiratory infections. Symptoms may include progressive deterioration of the central nervous system, weakness and movement problems, seizures, early blindness, an abnormally enlarged head (macrocephaly), doll-like facial features, awkward muscle movement, heart murmurs, and an enlarged liver or spleen.

Krabbe disease 

Krabbe disease (also known as globoid cell leukodystrophy) is a rare autosomal recessive disorder that belongs to a group of disorders called leukodystrophies. It is caused by a defect in the GALC gene, leading to malfunction of the enzyme galactocerebrosidase. The disease most often affects infants, with onset before age six months, but can occur in adolescence or adulthood. In infants, the disorder is generally fatal before age 2 and people with a later onset generally have a milder course of the disease and live significantly longer. The excessive buildup of a type of fat called galactolipids affects the growth of the myelin sheath and causes severe deterioration of mental and motor skills. Other symptoms include:

• Muscle weakness
• Reduced ability of a muscle to stretch (hypertonia)
• Muscle stiffening (spasticity)
• Sudden shock-like or jerking of the limbs (myoclonic seizures)
• Unexplained fever
• Deafness
• Blindness
• Difficulty when swallowing

Prolonged weight loss may also occur. 

Metachromatic leukodystrophy 

Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders marked by the toxic buildup of lipids, called sulfatides, and other storage materials in cells in the white matter of the central nervous system, peripheral nerves, and somewhat in the kidneys. Like Krabbe disease, MLD affects the myelin that covers and protects the nerves and belongs to a group of disorders called leukodystrophies. This autosomal recessive disorder is caused by lack of the enzyme arylsulfatase A (ARSA). 

There are three characteristic forms of MLD:

• Late infantile MLD typically begins between ages 12 and 20 months. Children with this disorder have trouble learning to walk and tend to fall, followed by:
  • Recurring arm and leg pain
  • Progressive vision loss leading to blindness
  • Developmental delays and loss of previously acquired milestones
  • Impaired swallowing
  • Convulsions
  • Dementia before age 2
  • Gradual muscle wasting and weakness, eventually losing the ability to walk. 
     
• Juvenile MLD typically begins between ages 3 and 10. Symptoms are progressive and include:
  • School performance challenges
  • Cognitive decline
  • Slurred speech and loss of balance (ataxia)
  • Dementia
     
• Adult MLD symptoms begin after age 16 and may include:
  • Ataxia
  • Seizures
  • Tremor
  • Trouble concentrating
  • Depression
  • Psychiatric problems
  • Dementia

The prognosis for MLD is poor. Most children with infantile MLD die by age 5. Symptoms of juvenile MLD get worse, with death occurring 10 to 20 years following onset. People affected by the adult form typically die within six to 14 years following onset of symptoms. 

Acid lipase disease (deficiency) 

Acid lipase disease or deficiency is a rare inherited lipid storage disorder. Wolman’s disease is one type of acid lipase deficiency that is marked by buildup of cholesteryl esters (a transport form of cholesterol) and triglycerides (a chemical form of fats in the body) that can build up significantly and cause damage in the cells and tissues. Infants with Wolman’s disease appear normal at birth but quickly develop the following symptoms and the disease is usually fatal by age 1:

• Progressive developmental problems
• Enlarged liver and extremely enlarged spleen
• Swollen abdomen
• Gastrointestinal problems
• Yellowing of the skin (jaundice) 
• Iron deficiency (anemia)
• Vomiting
• Calcium deposits in the adrenal glands, causing them to harden

Another type of acid lipase deficiency is cholesteryl ester storage disease (CESD). This extremely rare disorder results from storage of cholesteryl esters and triglycerides in cells of the blood and lymph tissue. Children develop an enlarged liver leading to cirrhosis (scarred and damaged liver) and chronic liver failure before adulthood. Children may also have calcium deposits in the adrenal glands and may develop jaundice late in the disorder. Onset varies and some people with CESD live into adulthood.

Who is more likely to get lipid storage diseases?

Lipid storage diseases are inherited from one or both parents who carry a defective gene that regulates a particular lipid-metabolizing enzyme. They can be inherited two ways:

• Autosomal recessive inheritance occurs when both parents carry and pass on a copy of the gene, but neither parent is affected by the disorder. Each child born to these parents has a:
  • 25% chance of inheriting both copies of the defective gene and having the disorder
  • 50% chance of being a carrier like the parents
  • 25% chance of not inheriting either copy of the defective gene

Gaucher disease, Niemann-Pick disease, Farber’s disease, GM1 and GM2 gangliosidoses, Krabbe disease, Metachromatic leukodystrophy, and Acid lipase deficiency (Wolman’s disease) are autosomal recessive disorders. 

• X-linked (or sex-linked) recessive inheritance occurs when the female parent carries the affected gene on the X chromosome. The X and Y chromosomes are involved in biological sex determination. Females have two X chromosomes and males have one X chromosome and one Y chromosome. Sons of female carriers have a 50% chance of inheriting and being affected with the disorder, as they receive one X chromosome from the female parent and a Y chromosome from the male parent. Daughters have a 50% chance of inheriting the affected X chromosome from the female parent. Because females have two copies of the X chromosome, one altered copy of the gene in each cell usually leads to less severe symptoms in females than in males, or rarely may cause no symptoms at all. Affected men do not pass the disorder to their sons but their daughters will be carriers for the disorder.

Fabry disease is the only X-linked lipid storage disease.

How are lipid storage diseases diagnosed and treated?

Diagnosing lipid storage diseases 

Lipid storage diseases begin differently for different people, and there are several forms of the disorders with similar symptoms. Therefore, it may be difficult to diagnose lipid storage diseases in the earliest stages.

Some U.S. states require screening for some of these disorders (most notably Krabbe disease) at birth.

In older children, diagnosis is made through clinical examination, enzyme assays (laboratory tests that measure enzyme activity), genetic testing, biopsy, and molecular analysis of cells or tissues. In some forms of the disorder, urine analysis can identify the presence of stored material. In others, abnormal enzyme activity can be detected in blood tests. 

Some tests can also determine if a person carries the defective gene that can be passed on to her or his children. This process is known as genotyping. A genetic counselor can help explain the risks of passing along these disorders. 

Treating lipid storage diseases 

Treating lipid storage diseases depends on the specific disorder and subtype. For some, including Niemann-Pick disease, the gangliosidoses, Tay-Sachs disease, Sandhoff disease, Krabbe disease, metachromatic leukodystrophy, and acid lipase disease, only supportive treatments are available. For example, proper nutrition, hydration, and keeping the airway open, may help people with the gangliosidoses, including Tay-Sachs disease and Sandhoff disease. Also, people with cholesteryl ester storage disease (CESD) may benefit from a low cholesterol diet.       

The U.S. Food and Drug Administration (FDA) has approved enzyme replacement therapies (ERTs) and substrate reduction therapies (SRTs) for Gaucher Type 1 disease, such as eliglustat tartrate. ERTs are typically used to replace a missing or deficient enzyme in a person with an inherited enzyme deficiency syndrome. SRTs reduce the production or buildup of harmful substances in the body. Rarely, surgery to remove the whole or part of the spleen may be required. Blood transfusions may benefit some people who are anemic. Other people may need joint replacement surgery to improve mobility and quality of life. There is no effective treatment for severe brain damage that may affect people with Gaucher Types 2 and 3 disease.

The FDA has also approved ERT to treat non-central nervous system symptoms in Niemann-Pick Type B disease. 

Intravenous ERTs for Fabry disease, including agalsidase alfa (Replagal), agalsidase beta (Fabrazyme), and pegunigalsidase alfa-iwxj (Elfabrio), can reduce lipid storage, ease pain, and preserve organ function in some people with the disease. Drugs are often prescribed to treat pain and gastrointestinal distress that accompanies Fabry disease but do not treat the disease. The FDA has approved migalastat (Galafold), an SRT, as an oral medication for adults with Fabry disease who have a certain genetic mutation. Anti-platelet medications can help prevent strokes and medications that lower blood pressure can slow the decline of kidney function in people with the disease. Some people may require kidney transplants or dialysis. 

Hematopoietic stem cell transplantation (HSCT) (also called bone marrow or stem cell transplantation) has been attempted in a few people with Niemann-Pick Type B disease, with mixed results. HSCT has also been examined in Farber Disease. HSCT is also used to treat early-infantile and late-infantile Krabbe. It has been shown to increase lifespan and improve clinical outcomes.

The FDA has approved the first and only gene therapy for metachromatic leukodystrophy (MLD), atidarsagene autotemecel (Lenmeldy). It is a one-time, single dose infusion made from a person’s own blood stem cells which have been genetically modified to include copies of the patient’s ARSA gene. The modified stem cells are transplanted back into the patient where they engraft (attach and multiply) within the bone marrow. The modified stem cells supply the body with myeloid (immune) cells that produce the ARSA enzyme, which helps break down the harmful buildup of lipids and may stop the progression of MLD.  

Anticonvulsants may initially control seizures in people with Niemann-Pick disease and the gangliosidoses, including Tay-Sachs disease and Sandhoff disease. 

Corticosteroids may be prescribed to relieve pain in people with Farber’s disease. Older people with the disease may have granulomas surgically reduced or removed. 

Bone marrow transplantation may delay progression of MLD in some cases. Considerable progress has been made in gene therapies in animal models of MLD and in clinical trials. 

What are the latest updates on lipid storage diseases?

NINDS, a part of the National Institutes of Health (NIH), is the nation’s leading federal funder of research on neurological disorders. NINDS conducts research on lipid storage diseases and other inherited metabolic disorders that affect the brain and nervous system and funds research at major institutions and universities.

In addition to NINDS, other components of NIH conduct and support research on lipid storage diseases, including the National Institute on Aging (NIA), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), the National Heart, Lung, and Blood Institute (NHLBI), and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). 

Researchers at NINDS have made significant contributions to research on lipid storage disorders and their treatment, including identifying the enzymes affected in people with Gaucher and Fabry diseases. NINDS scientists also discovered a gene that is mutated in most people with Niemann-Pick disease Type C. NINDS researchers developed highly effective enzyme replacement therapy for Gaucher and Fabry diseases. A mouse model of Fabry disease developed by NINDS research is used in research to understand the disease and develop treatments, which has enabled ongoing and promising research to develop gene therapy for this disease.

NINDS and other NIH institutes support the Lysosomal Disease Network (LDN), a network of centers that seeks to address some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases. The LDN is a member of the NIH Rare Diseases Clinical Research Network, which supports collaborative consortia of rare disease researchers and disease community partners. Research on lipid storage disorders within the LDN includes longitudinal studies of the natural history and/or treatment of these disorders. Additional studies will emphasize the quantitative analysis of the central nervous system structure and function and develop biomarkers (signs that can indicate the diagnosis or progression of a disease) for these disorders.  

Research funded by NINDS focuses on better understanding how neurological deficits arise in lipid storage disorders and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches.

Mutations in the gene that provides instructions for producing the protein glucocerebrosidase cause Gaucher disease as well as an increased risk for Parkinson's disease, all of which are marked by increased buildup of the protein alpha-synuclein. Using fly and mouse models of glucocerebrosidase deficiency, scientists hope to learn how this deficiency impairs the breakdown of lysosomal proteins, including alpha-synuclein. Other research is looking at anomalies in metabolic pathways that may contribute to neuronal dysfunction and degeneration in aging and sporadic Parkinson's disease. A better understanding of the mechanisms involved in these diseases could lead to the development of new treatments. 

Hematopoietic stem cell transplant (HSCT) has been shown to benefit some individuals when given early in the course of Krabbe disease. For example, a small clinical study found that treating infants at high risk for developing early-onset Krabbe disease with HSCT before they were seven weeks old led to improved quality of life and longer lifespans compared to untreated children or children who received HSCT after age six weeks. Scientists plan to test hematopoietic stem cell transplantation plus gene therapy in an animal model of Krabbe disease to study disease mechanisms and any positive effects of combined therapy. Also in an animal model, NINDS-funded scientists are testing a combined treatment approach that uses a harmless virus to increase protein production, along with blood stem cell transplantation and small molecule-based drugs, to reduce neuroinflammation, cell death, and nerve cell degeneration seen in the disease.  

A barrier to the development of therapies for Niemann-Pick disease type C1 (NPC1) is the lack of outcome measures for clinical trials. NINDS-funded researchers will test if a cholesterol oxidation byproduct (“oxysterol”) is a biomarker that can be used to evaluate therapies as well as screen newborns for NPC1 disease.

NINDS-funded research on gangliosidoses is expanding the use of gene therapy delivered using an adeno-associated virus (AAV) to a larger area of the brain using an animal model of Tay-Sachs and Sandhoff diseases. A related project will study the effectiveness of whole-body AAV therapy in treating the disease.

NINDS-funded studies are developing new and improved treatments for Farber, Tay-Sachs, Sandhoff, Fabry, and Gaucher diseases, as well as cholesterol metabolism disorders. Among NIH-funded projects, researchers hope to improve imaging techniques that will aid in newborn screening for lysosomal storage diseases, and to correct cholesterol metabolism dysfunction and markedly increase the life of the animal models of cholesterol storage disease.

Enzyme replacement for acid lipase deficiency (Wolman’s disease) and cholesteryl ester storage disease is currently under active investigation.

Research projects on lipid storage diseases can be found using NIH RePORTER, a searchable database of current and past research projects supported by NIH and other federal agencies. RePORTER also includes links to publications from these projects and other resources.  

For research articles and summaries on lipid storage diseases, search PubMed, which contains citations from medical journals and other sites.

How can I or my loved one help improve care for people with lipid storage diseases?

Consider participating in a clinical trial so clinicians and scientists can learn more about lipid storage diseases and related disorders. Clinical research with study participants helps researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of participants are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.
 

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with lipid storage diseases at Clinicaltrials.gov.

NINDS acknowledges Dr. Fernando D. Testai and the American Academy of Neurology for their contributions to this piece.