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Gaucher Disease News

FDA OKs 1st At-Home Genetic Tests for 10 Disorders

Posted 6 Apr 2017 by Drugs.com

THURSDAY, April 6, 2017 – The U.S. Food and Drug Administration has approved the first home genetic tests for 10 health risks, including Parkinson's disease and late-onset Alzheimer's. The approval – granted to the California-based company 23andMe Inc. – could help test users make lifestyle choices or spark important discussions with health care providers, the FDA said. "Consumers can now have direct access to certain genetic risk information," Dr. Jeffrey Shuren, director of the FDA's Center for Devices and Radiological Health, said Thursday in an agency news release. "But, it is important that people understand that genetic risk is just one piece of the bigger puzzle. It does not mean they will or won't ultimately develop a disease," he added. Along with genetics, many things can contribute to disease and illness, including lifestyle and environmental factors, the FDA said. The ... Read more

Related support groups: Parkinson's Disease, Alzheimer's Disease, Celiac Disease, Diagnosis and Investigation, Parkinsonism, Hemophilia, Gaucher Disease

Newborn Screening Tests Approved

Posted 6 Feb 2017 by Drugs.com

MONDAY, Feb. 6, 2017 – A set of screening tests designed to detect four rare metabolic disorders in newborns has been approved by the U.S. Food and Drug Administration. The "Seeker" system of diagnostics is designed to screen for Mucopolysaccharidosis Type 1, Pompe, Gaucher and Fabry. These are the first tests approved to screen for the inherited disorders, which affect proteins that normally eliminate harmful substances from the body, the FDA said in a news release. The disorders occur in as few as 1 in 185,000 births, or as many as 1 in 1,500 births, depending on the disorder, the agency said. The conditions, collectively called Lysosomal Storage Disorders, could lead to organ damage and death if not treated in a timely way, the FDA added. Some states now require screening of these disorders, the agency said, including Arizona, Illinois, Kentucky, Michigan, Missouri, New Jersey, New ... Read more

Related support groups: Diagnosis and Investigation, Pompe disease, Gaucher Disease, Fabry Disease, Lysosomal Acid Lipase Deficiency, Mucopolysaccharidosis Type I, Cerebral Sphingolipidosis

FDA Approves Cerdelga (eliglustat) for Type 1 Gaucher Disease

Posted 19 Aug 2014 by Drugs.com

August 19, 2014 – The U.S. Food and Drug Administration today approved Cerdelga (eliglustat) for the long-term treatment of adult patients with the Type 1 form of Gaucher disease, a rare genetic disorder. Gaucher disease occurs in people who do not produce enough of an enzyme called glucocerebrosidase. The enzyme deficiency causes fatty materials to collect in the spleen, liver and bone marrow. The major signs of Gaucher disease include liver and spleen enlargement, low red blood cell counts (anemia), low blood platelet counts and bone problems. Cerdelga is a hard gelatin capsule containing eliglustat that is taken orally. In patients with Gaucher disease Type 1, the drug slows down the production of the fatty materials by inhibiting the metabolic process that forms them. Type 1 Gaucher disease is estimated to affect about 6,000 people in the United States. “Today’s approval offers a ... Read more

Related support groups: Gaucher Disease

FDA Medwatch Alert: VPRIV (velaglucerase alfa for injection): Recall - Visible Particulate Matter

Posted 20 Mar 2014 by Drugs.com

ISSUE: Shire Pharmaceuticals announced a voluntary recall in the United States of one batch, packaged into three lots, of VPRIV due to the presence of visible particulate matter, identified as stainless steel and barium sulfate. The particulate matter was found in a small number of vials in the three packaged lots of VPRIV. A Shire investigation identified the particulate matter root cause as the third party supplier fill finish process. If infused, there is a possibility of rare but serious adverse events associated with particulate containing barium sulfate. The following packaged lots were recalled: FEW13-001, FEW13-002, and FED13-006. These lots were distributed nationwide to hospitals, infusion clinics, patients, and home health agencies in the United States and all have the same NDC code (54092-701-04) and same expiration date of 10/15 (Oct 2015). BACKGROUND: VPRIV is a hydrolytic ... Read more

Related support groups: Gaucher Disease, VPRIV

FDA Approves New Orphan Drug Elelyso to Treat a Form of Gaucher Disease

Posted 1 May 2012 by Drugs.com

May 1, 2012 – The U.S. Food and Drug Administration today approved Elelyso (taliglucerase alfa) for long-term enzyme replacement therapy to treat a form of Gaucher disease, a rare genetic disorder. Gaucher disease occurs in people who do not produce enough of an enzyme called glucocerebrosidase. The enzyme deficiency causes fatty materials (lipids) to collect in the spleen, liver, kidneys, and other organs. The major signs of Gaucher disease include liver or spleen damage, low red blood cell counts (anemia), low blood platelet counts, and bone problems. Elelyso is an injection that replaces the missing enzyme in patients with a confirmed diagnosis of Type 1 (non-neuropathic) Gaucher disease and should be administered by a health care professional every other week. Type 1 Gaucher disease is estimated to affect about 6,000 people in the United States. "Today's approval provides for a ... Read more

Related support groups: Gaucher Disease

FDA Approves VPRIV to Treat Gaucher Disease

Posted 28 Feb 2010 by Drugs.com

The U.S. Food and Drug Administration has approved velaglucerase alfa for injection (VPRIV) to treat children and adults with a form of the rare genetic disorder Gaucher disease. Gaucher disease occurs in people who do not produce enough of an enzyme called glucocerebrosidase. Without this enzyme, harmful amounts of a certain fatty substance (lipid) can build up in the liver, spleen, bones, bone marrow and nervous system, and can prevent cells and organs from working properly. About 1 in 50,000 to 1 in 100,000 people in the general population have Gaucher disease. VPRIV provides long-term enzyme replacement therapy for Type 1 Gaucher disease, the most common form of the genetic disorder. It is an alternative to Cerezyme (imiglucerase), another enzyme replacement therapy. Cerezyme is currently in short supply. "The approval of VPRIV will provide a safe and effective alternative treatment ... Read more

Related support groups: Gaucher Disease

Replacement Therapy Approved for Gaucher Disease

Posted 27 Feb 2010 by Drugs.com

FRIDAY, Feb. 26 – Velaglucerase alfa for injection (VPRIV) has been approved by the U.S. Food and Drug Administration to treat a rare inherited disorder called Gaucher disease, the agency said Friday. The disorder is caused by lack of an enzyme called glucocerebrosidase. This allows a fatty substance called a lipid to build up in the liver, spleen, bones, bone marrow and nervous system. The disorder affects only about 1 in 50,000 people, the FDA said in a news release. The newly approved treatment replaces the lacking enzyme in people with Type 1 Gaucher disease, the disorder's most common form. An older form of replacement therapy is in short supply, the agency said. VPRIV's safety and effectiveness were evaluated in clinical trials involving 82 people aged 4 and older with Type 1 Gaucher. The most common side effects reported were allergic reactions; dizziness; pain in the abdomen, ... Read more

Related support groups: Gaucher Disease

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Further Information

Related Condition Support Groups

Cerebral Sphingolipidosis, Metabolic Disorder Including Congenital

Related Drug Support Groups

Zavesca, imiglucerase, miglustat, velaglucerase alfa, taliglucerase alfa, eliglustat, Cerezyme, VPRIV, Elelyso, Cerdelga