Search for specific clinical trials that are underway using the keyword search below.
Patient support groups also offer information about clinical trials.
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NINDS Disorders is an index of neurological conditions provided by the National Institute of Neurological Disorders and Stroke. This valuable tool offers detailed descriptions, facts on treatment and prognosis, and patient organization contact information for over 500 identified neurological disorders.
Lipid Storage Diseases
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 membranes found within and between each cell and in the myelin sheath that coast and protects the nerves. Over time, this excessive storage of fats can cause permanent cellular and tissue damage, particularly in the brain, peripheral nervous system, liver, spleen, and bone marrow. Lipid storage diseases are inherited from one or both parents who carry a defective gene. Symptoms may appear early in life or develop in the teen or even adult years. Neurological complications of the lipid storage diseases may include ataxia, eye paralysis, brain degeneration, seizures, learning problems, spasticity, feeding and swallowing difficulties, slurred speech, loss of muscle tone, hypersensitivity to touch, pain in the arms and legs, and clouding of the cornea.
Treatment
Currently there is no specific treatment available for most of the lipid storage disorders, although Gaucher and Fabry diseases have highly effective enzyme replacement therapies. There is currently no cure for Niemann-Pick disease. Treatment is supportive. Doctors often prescribe corticosteroids to relieve the pain of Farber’s disease. Anticonvulsant medications are often used to control seizures in Tay-Sachs disease.
Prognosis
The prognosis for a lipid storage disorder is determined by the type of disease, the age of onset, and the severity of symptoms. Children with Gaucher disease may live well into adulthood, while children with Niemann-Pick disease most 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 disease may eventually need a feeding tube and they often die by age 4 from recurring infection.
Research
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to lipid storage diseases in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. NINDS researchers were responsible for developing highly effective enzyme replacement therapies for Gaucher and Fabry diseases. Scientists at the NINDS continue to study how lipids accumulate in cells and why they cause harm to the body. The goal of this research is to develop novel approaches to the treatment of these disorders.
View a list of studies currently seeking patients.
View more studies on this condition.
Read additional information from Medline Plus.
Organizations
Fabry Support & Information Group
Non-profit support and information group that works to raise awareness of Fabry disease and its symptoms. Offers a variety of self-help, educational, and advocacy initiatives and programs in an effort to enhance identification, diagnosis, and treatment of Fabry disease.
108 NE 2nd Street, Ste. C
P.O. Box 510
P.O. Box 510
Concordia, MO 64020-0510
Tel: 660-463-1355
Fax: 660-463-1356
National Gaucher Foundation
Funds research for a cure and alternative treatments for Gaucher Disease; provides education, financial, support and mentor programs and advocates for legislation affecting the Gaucher and rare disease community.
2227 Idlewood Road, Suite 12
Tucker, GA 30084
Tel: 800-504-3189
Fax: 770-934-2911
Children's Gaucher Research Fund
Grassroots non-profit organization that supports research efforts on Types 2 and 3 Gaucher disease.
P.O. Box 2123
Granite Bay, CA 95746-2123
Tel: 916-797-3700
Fax: 916-797-3707
United Leukodystrophy Foundation
Nonprofit voluntary health organization dedicated to providing patients and their families with information; assistance in identifying sources of medical care, social services, and genetic counseling; establishing a communication network among families; increasing public awareness, and acting as an information source for health care providers. Promotes supports research into causes, treatments, and prevention of the leukodystrophies.
2304 Highland Drive
Sycamore, IL 60178
Tel: 815-895-3211
800-728-5483
Fax: 815-895-2432
National Niemann-Pick Disease Foundation, Inc.
International nonprofit organization made up of parents, medical and educational professionals, friends, relatives, and others.
P.O. Box 49
401 Madison Avenue, Suite B
401 Madison Avenue, Suite B
Ft. Atkinson, WI 53538
Tel: 920-563-0930
877-CURE-NPC (287-3672)
Fax: 920-563-0931
Ara Parseghian Medical Research Foundation [For Niemann-Pick Type C Disease]
Funds research projects that will lead to a treatment for Niemann-Pick Type C and other pediatric neurological diseases and cholesterol metabolism disorders.
3530 East Campo Abierto
Suite 105
Suite 105
Tucson, AZ 85718-3327
Tel: 520-577-5106
Fax: 520-577-5212
National Tay-Sachs and Allied Diseases Association
The mission of the National Tay-Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.
2001 Beacon Street
Suite 204
Suite 204
Boston, MA 02135
Tel: 800-90-NTSAD (906-8723)
Fax: 617-277-0134
March of Dimes
Works to improve the health of babies by preventing birth defects and infant mortality through programs of research, community services, education, and advocacy.
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: 914-997-4488
888-MODIMES (663-4637)
Fax: 914-428-8203
Hide and Seek Foundation for Lysosomal Storage Disease Research
Nonprofit that raises awareness and supports research to find treatments and cures for lysosomal disorders.
6475 East Pacific Coast Highway
Suite 466
Suite 466
Long Beach, CA 90803
Tel: 877-621-1122
Fax: 818-762-2502
ISMRD-International Advocate For Glycoprotein Storage Diseases
ISMRD-International Advocate For Glycoprotein Storage Diseases advocates for families worldwide affected by Glycoprotein & Related Storage Diseases by building partnerships with medicine, science and industry and by providing a network of support and information.
20880 Canyon View Drive
Saratoga, CA 95070
Tel: 734-449-1190
Fax: 734-449-9038
National Organization for Rare Disorders (NORD)
Federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. Committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.
55 Kenosia Avenue
Danbury, CT 06810
Tel: 203-744-0100
Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291
National Fabry Disease Foundation
4301 Connecticut Avenue, NW
Suite 404
Suite 404
Washington, DC 20008-2369
Tel: 800-651-9131
Fax: 800-651-9135