Miglustat gaucher disease. Medical search. Frequent questions

Miglustat, sold under the brand name Zavesca among others, is a medication used to treat type I Gaucher disease and Pompe disease. (wikipedia.org)
The FDA has approved another agent for substrate reduction, miglustat ( Zavesca , Actelion), but only for adults who are not eligible for enzyme replacement therapy. (medscape.com)
This application was made by a Swiss pharmaceutical company called Actelion Corporation for a drug called Zavesca (Miglustat). (addiandcassi.com)
Zavesca is currently under review and the FDA will make a decision in early March as to whether it approves Zavesca for the treatment of Niemann Pick Type C disease. (addiandcassi.com)
Based upon recent animal studies, Cyclodextrin appears to have far greater promise for the treatment of NPC disease than Zavesca. (addiandcassi.com)

SAN DIEGO - Eliglustat ( Cerdelga , Genzyme), a new oral treatment for type 1 Gaucher's disease, works almost as well as intravenous enzyme replacement therapy with imiglucerase, new research shows. (medscape.com)
The US Food and Drug Administration (FDA) approved eliglustat in hard capsule format for adults with type 1 Gaucher's disease in August. (medscape.com)
In one, patients with Gaucher's disease treated for 9 months with eliglustat did much better than those treated for 9 months with placebo. (medscape.com)
The glucosylceramide synthase inhibitors, miglustat and eliglustat, were approved for adults with type 1 Gaucher disease in 2003 and 2014 respectively. (medscape.com)

There are 3 types of Gaucher disease, which vary in epidemiology, enzyme activity, and manifestations. (msdmanuals.com)
GD types 2 and 3 are seen around the world, but are the most common types of Gaucher disease seen outside the United States, like in Taiwan, Japan, India and Egypt. (thinkgenetic.com)
There are different types of Gaucher disease, and signs and symptoms of disease vary widely, even within the same type. (diabeteshealthmatters.com)

The goal is to limit the fat buildup (GL1 substrates) to a level that can be effectively cleared by the naturally occurring enzyme (all living people with Gaucher disease have a little enzyme) with residual activity. (thinkgenetic.com)
This oral medication appears to interfere with the production of fatty substances that build up in people with Gaucher disease. (diabeteshealthmatters.com)
People with Gaucher disease do not make enough of the enzyme glucocerebrosidase (GCase). (raredisease.net)
SRTs partly block the body from making glucocerebroside, the fatty chemical that builds up in people with Gaucher disease. (raredisease.net)
People with Gaucher disease may need other treatments to manage the symptoms and complications of the condition. (raredisease.net)
Treatment focuses on allowing people with Gaucher disease to go about their daily lives without fatigue , joint pain, shortness of breath, or the dangers of osteoporosis. (raredisease.net)

People with type I Gaucher have a defect in the enzyme called glucocerebrosidase (also known as acid β-glucosidase). (wikipedia.org)
The factors that contribute to neurologic involvement in patients with types 2 and 3 disease are still unknown but may be related to the accumulation of a cytotoxic glycolipid, glucosylsphingosine, in the brain due to the severe deficiency of glucocerebrosidase activity or to neuroinflammation. (medscape.com)
Gaucher's disease, also known as glucocerebrosidase deficiency, is an autosomal recessive disease that affects about 1 in 20,000 live births. (medscape.com)
Gaucher disease is an inherited disorder that is caused by the lack of an enzyme called glucocerebrosidase. (europa.eu)
PURPOSE: Gaucher disease (GD) is the most common lysosomal storage disease caused by beta-glucocerebrosidase (GBA) deficiency. (koreamed.org)
Today, this is the most common lysosomal storage diseases, resulting in deficiency in glucocerebrosidase. (naturalcurefor.com)
The enzyme test to determine the level of glucocerebrosidase is the standard method for diagnosing Gaucher disease. (thinkgenetic.com)
Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the body especially within the bone marrow, spleen and liver. (diabeteshealthmatters.com)
In Gaucher disease certain sugar (glucose) containing fat, known as glycolipids, abnormally accumulate in the body because of the lack of the enzyme, glucocerebrosidase. (diabeteshealthmatters.com)

Substrate reduction therapy (SRT) is an alternative treatment for appropriate adult patients with type 1 Gaucher disease. (medscape.com)
None had a history of heart disease, previous substrate reduction therapy, or splenectomy. (medscape.com)
Oral substrate reduction therapy with miglustat (ZavescaÂ®) was approved for the treatment of adults. (koreamed.org)

While there's no cure for Gaucher disease, a variety of treatments can help control symptoms, prevent irreversible damage and improve quality of life. (diabeteshealthmatters.com)
There is no cure for Gaucher disease but there are treatments for symptoms of type 1 and the non-neurological symptoms of type 3. (raredisease.net)

In the European Union, miglustat (Opfolda), in combination with cipaglucosidase alfa, is a long-term enzyme replacement therapy in adults with late-onset Pompe disease (acid α‑glucosidase [GAA] deficiency). (wikipedia.org)
On 26 April 2023, the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) adopted a positive opinion, recommending the granting of a marketing authorization for the medicinal product Opfolda, intended for the treatment of glycogen storage disease type II (Pompe disease) in combination with cipaglucosidase alfa. (wikipedia.org)
Miglustat is an inhibitor of glucosylceramide synthase, the enzyme responsible for the first step in the synthesis of most glycolipids, and a pharmacokinetic enzyme stabiliser of cipaglucosidase alfa. (rxreasoner.com)

At the time of designation, two medicines, imiglucerase and miglustat, were authorised for the treatment of Gaucher disease in the EU. (europa.eu)
The sponsor has provided sufficient information to show that velaglucerase alfa might be of significant benefit for patients with Gaucher disease because it may represent an alternative treatment to imiglucerase, should the long-term supply problems that are occurring with this medicine continue or happen again in the future. (europa.eu)
Approximately 10-15% of patients with Gaucher disease treated with imiglucerase develop antibodies to the enzyme protein, but few develop any significant allergic reactions, which are controlled with premedication with hydrocortisone, antihistamines, or both. (medscape.com)

On 3 July, Amicus Therapeutics and Paragon Bioservices (acquired by Catalent Biologics) entered into a manufacturing agreement to develop cell and gene technologies for the treatment of rare genetic lysosomal storage diseases (LSDs) such as Pompe disease. (pharmaceutical-technology.com)
CNS-targeting therapies for lysosomal storage diseases: current advances and challenges. (gustavomaegawa.com)
Leukodystrophies in Lysosomal Storage Diseases. (gustavomaegawa.com)

Miglustat functions as a competitive and reversible inhibitor of the enzyme glucosylceramide synthase, the initial enzyme in a series of reactions which results in the synthesis of most glycosphingolipids. (wikipedia.org)
The disease occurs when the lipid glucosylceramide accumulates in the bone marrow, lungs, spleen, liver, and sometimes the brain. (medscape.com)

If left untreated, it can enlarge the liver and spleen and cause anemia, thrombocytopenia, neurologic damage, and bone disease, among other manifestations. (medscape.com)
In most cases, ERT is highly effective in reversing the visceral and hematologic manifestations of type 1 Gaucher disease. (medscape.com)
Common manifestations of Gaucher disease include an abnormally enlarged liver and/or spleen (hepatosplenomegaly), low levels of circulating red blood cells (anemia), low levels of platelets(thrombocytopenia), and skeletal abnormalities. (diabeteshealthmatters.com)

GD type 2 is the most severe and acute life-threatening form of the disease with health issues usually beginning before birth. (thinkgenetic.com)
Type 2 (acute infantile neuropathic Gaucher disease) is rare and causes severe, irreversible brain damage quickly. (raredisease.net)

These types of medication can help rebuild bone weakened by Gaucher disease. (diabeteshealthmatters.com)

At the time of submission, velaglucerase alfa was authorised and had been granted orphan designation in the United States of America for Gaucher disease. (europa.eu)

Miglustat is indicated to treat adults with mild to moderate type I Gaucher disease for whom enzyme replacement therapy is unsuitable. (wikipedia.org)
Miglustat has been approved in the EU, Canada, and Japan for treating progressive neurological complications in people with Niemann-Pick disease, type C (NPC). (wikipedia.org)
Patients with type 1 disease commonly present with painless splenomegaly, anemia, or thrombocytopenia. (medscape.com)
Patients with type 2 disease may present prenatally, at birth or during infancy with increased tone, seizures, strabismus, and organomegaly. (medscape.com)
Failure to thrive, swallowing abnormalities, oculomotor apraxia, hepatosplenomegaly, and stridor due to laryngospasm are typical in infants with type 2 disease. (medscape.com)
Patients with type 3 disease, in addition to organomegaly and bony involvement, present with neurologic involvement, most often including slowing of the horizontal saccadic eye movements. (medscape.com)
Enzyme replacement therapy (ERT) is indicated for patients with type 1 and type 3 Gaucher disease who exhibit clinical signs and symptoms of the disease, including anemia, thrombocytopenia, skeletal disease, or visceromegaly. (medscape.com)
ERT sometimes is started in patients with type 2 GD, as often there can be a question regarding disease type and progression, and to delay may have significant impact on patient outcomes. (medscape.com)
Type 1 Gaucher disease is more common among individuals with Ashkenazi Jewish heritage, although all types are panethnic in their distribution. (medscape.com)
Although Gaucher's disease is pan-ethnic, type 1 is the most common inherited Jewish genetic disease. (medscape.com)
Velaglucerase alfa (Vpriv) was authorised in the EU on 26 August 2010 for for long-term enzyme replacement therapy (ERT) in patients with type 1 Gaucher disease. (europa.eu)
Gaucher disease type 1 (GD1) is an inherited lysosomal storage disorder caused by deficiency of acid Î²-glucosidase. (koreamed.org)
Several therapies have been approved by the US Food and Drug Administration (FDA) for the treatment of type 1 Gaucher disease. (medscape.com)
Hydrolytic lysosomal glucocerebroside-specific enzyme indicated for long-term enzyme replacement therapy for type 1 Gaucher disease. (medscape.com)
Indicated for type 1 Gaucher disease in patients in whom ERT is not a therapeutic option. (medscape.com)
It is indicated for the long-term treatment of adults with Gaucher disease type 1 who are CYP2D6 extensive metabolizers (EM), intermediate metabolizers (IM), or poor metabolizers (PM) as detected by an FDA-cleared test for phenotype. (medscape.com)
Type II Gaucher disease occurs in 1 out of 100,000 live births manifests after 6 months of age. (naturalcurefor.com)
Symptoms and signs of type II Gaucher disease are progressive neurologic deterioration (eg, rigidity, seizures) and death by age 2 years. (msdmanuals.com)
Gaucher disease related health issues can start at any age but based on the timing when symptoms begin and the seriousness of the medical issues it is divided into 3 types: type 1, type 2 and type 3. (thinkgenetic.com)
Usually, type 1 Gaucher disease is non-neuronopathic, meaning it does not affect the brain. (thinkgenetic.com)
GD type 3 is an intermediate, chronic form of the disease which causes issues not only with the spleen, liver and bones but affects the brain. (thinkgenetic.com)
Affected individuals with type 1 Gaucher disease typically have 20% of the normal enzyme level compared with unaffected individuals. (thinkgenetic.com)
Gaucher disease is the most common type of lysosomal storage disorder. (diabeteshealthmatters.com)
Miglustat is indicated for the oral treatment of adult patients with mild to moderate type 1 Gaucher disease. (rxreasoner.com)
The recommended starting dose for the treatment of adult patients with type 1 Gaucher disease is 100 mg three times a day. (rxreasoner.com)
Rare diseases affect about 30 million Americans - roughly the same number as those with type 2 diabetes. (gaucherdiseasenews.com)
2. Han S, Zhang H ¥ , Yi M, Liu X, Maegawa GHB , Zou Y, Wang Q, Wu D, Ye Z. Potential Disease-Modifying Effects of Lithium Carbonate in Niemann-Pick Disease, Type C1. (gustavomaegawa.com)
who were not receiving therapy for 2?weeks (2 with Pompe disease and 1 with mucopolysaccharidosis type II) reported increased fatigue and walking troubles. (informationalwebs.com)
Type 3 (chronic neuropathic Gaucher disease) is rare in the United States and Europe but is the most common form globally. (raredisease.net)
At a historic orphan drug workshop held by the U.S. Food and Drug Administration Feb. 25-26 and before World Rare Disease Day 2010, we filed a momentous orphan drug application with the FDA for the treatment of Niemann Pick Type C disease with cyclodextrin. (addiandcassi.com)
Typically rare disease drug applications are filed by pharmaceutical or biotech companies but our application was filed as patient advocates on behalf of the entire Niemann Pick Type C disease community worldwide. (addiandcassi.com)
We filled two binders (one original and one copy) with information on Hydroxy Propel Beta Cyclodextrin (HPBCD) for the treatment of Niemann Pick Type C Disease. (addiandcassi.com)
Niemann Pick Type C disease is a very rare, relentlessly progressive and eventually fatal neurodegenerative genetic cholesterol disorder that afflicts my six year old twins. (addiandcassi.com)
Only one other orphan drug application in history has been filed with the FDA to treat Niemann Pick Type C disease. (addiandcassi.com)
The goal of this filing to to move forward with the research in order to verify efficacy and to give kids with Niemann Pick Type C disease a real chance at life. (addiandcassi.com)

However, some cases do not fit precisely into one of these categories, and the disease should be viewed as a spectrum of symptoms. (medscape.com)
Those for whom the occurrence of the disease was sporadic, there may be some delay in the diagnosis because symptoms are protean and may vary as to which will manifest and to what extent. (naturalcurefor.com)
The symptoms and physical findings associated with Gaucher disease vary greatly from case to case. (diabeteshealthmatters.com)
This accumulation or "storage" of lipids leads to the various symptoms or physical findings associated with a lysosomal storage disease. (diabeteshealthmatters.com)
Some people who have Gaucher disease have only mild or no symptoms. (diabeteshealthmatters.com)
LSD's are inherited disorders of lysosomal metabolism with a wide variety in clinical symptoms, ranging from severe life-threatening neurological disease to mild or even asymptomatic cases. (biomedcentral.com)

What are the symptom-based treatments for Gaucher disease? (thinkgenetic.com)
My research is focused on the discovery of novel treatments and mechanisms of genetic liver diseases, and developing biomarkers to monitor patients," he says. (yalemedicine.org)
Three treatments (including a recently approved new enzyme) have now been authorized for Gaucher Disease and two other potential therapies are in the pipeline. (biomedcentral.com)
We argue that disease specific (rather than drug specific) registries, supervised by independent clinicians are urgently needed for the best long-term evaluation of treatments of these rare diseases. (biomedcentral.com)
Existing drug registries for evaluation of the effectiveness of treatments for some orphan diseases have certain limitations in this respect. (biomedcentral.com)

Dr. Mistry, who was born in Kenya and grew up in England, has additional clinical interests in such areas as liver disorders of lipid metabolism (such as Neimann Pick disease, cholesterol ester storage disease), alpha 1 antitrypsin deficiency, porphyrias, and undiagnosed liver diseases in the younger patients. (yalemedicine.org)

On 6 June 2010, orphan designation (EU/3/10/752) was granted by the European Commission to Shire Pharmaceuticals Ireland Limited, Ireland, for velaglucerase alfa for the treatment of Gaucher disease. (europa.eu)
Velaglucerase alfa is an enzyme replacement therapy that is expected to work by replacing the missing enzyme in Gaucher disease, helping to break down glucocerebroside and stopping it building up in the body. (europa.eu)
At the time of submission of the application for orphan designation, clinical trials with velaglucerase alfa in patients with Gaucher disease were ongoing. (europa.eu)
Amicus Therapeutics has recently started a Phase III trial of its own ERT chaperone therapy (alglucosidase alfa + miglustat). (pharmaceutical-technology.com)

Because the disease is autosomal recessive, the disease is hereditary. (naturalcurefor.com)
All three forms of Gaucher disease are inherited as autosomal recessive traits. (diabeteshealthmatters.com)
Gaucher disease is passed along in an inheritance pattern called autosomal recessive. (diabeteshealthmatters.com)

It is for this reason that a patient suspected of having Gaucher's disease will likely have a positive diagnosis if other family members have previously diagnosed. (naturalcurefor.com)
Diagnosis of Gaucher disease is by DNA analysis and/or enzyme analysis of white blood cells. (msdmanuals.com)
There have been recent developments in testing that make diagnosis easier and new therapies that aim to stabilise the disease process. (bmj.com)

For Fabry disease, two enzymes were authorized at the same time resulting in two different drug registries being required by the European Medicines Agency (EMA) to monitor effectiveness and safety. (biomedcentral.com)
The European Union enacted the Orphan Drug Regulation in 2000 ( (EC) No 141/2000 and (EC) No 847/2000 ) in order to improve the availability of innovative medicines for diseases affecting less than 5/10 000 people. (biomedcentral.com)

With the treatment options for LSDs being scarce and unmet needs largely unfulfilled, Amicus is creating an opportunity to tap aggressively into this lucrative market where it already plays an important role, having one marketed therapy for Fabry disease (Galafold) and an enzyme replacement therapy for Pompe disease (AT-GAA) in its late-stage pipeline. (pharmaceutical-technology.com)
They are also going to work on the establishment of a new gene therapy program for Pompe disease. (pharmaceutical-technology.com)
Since the approval of Genzyme's Myozyme in the US in 2007, no other drugs have been approved for the treatment of Pompe disease. (pharmaceutical-technology.com)
The global Pompe disease market is expected to grow steadily over the next 10 years from about $684 million in 2017 to $903 million in 2027, mainly due to increasing awareness of the disease among physicians. (pharmaceutical-technology.com)

some patients present in childhood with virtually all the complications of Gaucher disease, whereas others remain asymptomatic into the eighth decade of life. (medscape.com)
Miglustat blocks the production of glucocerebroside and is used in patients who cannot receive enzyme replacement therapy. (europa.eu)
Worldwide, over 4,000 patients with Gaucher disease have received ERT, which is safe and well tolerated. (medscape.com)
A few patients with Gaucher disease have developed antibodies that impair enzyme activity. (medscape.com)
Miglustat may be used only in the treatment of patients for whom enzyme replacement therapy is unsuitable. (rxreasoner.com)
Dividing up the data on Gaucher disease patients in to five separate registries benefits nobody. (biomedcentral.com)

When this enzyme doesn't work, glucocerebroside accumulates, which in turn causes liver and spleen enlargement, changes in the bone marrow and blood, and bone disease. (wikipedia.org)
Although biopsy is unnecessary, Gaucher cells-lipid-laden tissue macrophages in the liver, spleen, lymph nodes, bone marrow, or brain that have a wrinkled tissue-paper appearance-are diagnostic. (msdmanuals.com)
Gaucher disease (GD) is a rare genetic condition that affects the bones, liver, spleen, and other parts of the body. (thinkgenetic.com)
Without this enzyme, Gaucher fat cells build up in the spleen, liver, and bone marrow. (raredisease.net)

Accumulation of Gaucher cells in the perivascular spaces in the brain causes gliosis in the neuronopathic forms. (msdmanuals.com)

The glycolipid storage gives rise to the characteristic Gaucher cells, macrophages engorged with lipid with a crumpled-tissue-paper appearance and displaced nuclei. (medscape.com)
Genetic defects of the enzyme cause glucocerebroside accumulation in tissue macrophages through phagocytosis, forming Gaucher cells. (msdmanuals.com)

Gaucher disease can weaken bone, increasing the risk of painful fractures. (diabeteshealthmatters.com)
Progressive infiltration of Gaucher cells in the bone marrow may lead to thinning of the cortex, pathologic fractures, bone pain, bony infarcts, and osteopenia. (medscape.com)

Three separate forms of Gaucher disease have been identified and are distinguished by the absence of, or the presence and extent of, neurological complications. (diabeteshealthmatters.com)
Your doctor likely will recommend routine monitoring to watch for disease progression and complications. (diabeteshealthmatters.com)

SRTs are not to be used in children and teenagers, people who are pregnant or breastfeeding, many people 65 and older, and people with severe kidney or liver disease. (raredisease.net)

In addition to his clinical work, Dr. Mistry is director of the Yale Lysosomal Disease Center and the internationally recognized Gaucher Disease Treatment Center. (yalemedicine.org)
He has published extensively in top-rated journals and led numerous international clinical trials for treatment of rare diseases. (yalemedicine.org)

How do I get biochemical testing for Gaucher? (thinkgenetic.com)

One rare subtype of Gaucher disease begins in infancy and typically results in death by 2 years of age. (diabeteshealthmatters.com)

Some registries also address phenotypic heterogeneity and natural history data and publications on these aspects have contributed to the knowledge and awareness of these rare diseases. (biomedcentral.com)

At Yale School of Medicine, he is a professor of both medicine (digestive diseases) and of pediatrics (gastroenterology), and of cellular and molecular physiology. (yalemedicine.org)

Gaucher disease is a rare genetic disorder characterized by the deposition of glucocerebroside in cells of the macrophage-monocyte system. (medscape.com)
Gaucher (go-SHAY) disease is a rare, inherited genetic disorder . (raredisease.net)

This drug also seems to inhibit the production of fatty substances that build up in people with the most common form of Gaucher disease. (diabeteshealthmatters.com)
He has a particular interest in Gaucher disease, an inherited disorder in which fatty substances build up in certain organs. (yalemedicine.org)

This post will review what is known about PrP glycosylation and its role (if any) in prion diseases, and will examine whether glycosylation represents a potential therapeutic target for treating these diseases. (cureffi.org)

parents are generally healthy carriers with one functional and one mutated (nonfunctioning) copy of the Gaucher disease gene, GBA. (wikipedia.org)
Genetic testing is done to identify carriers for Gaucher disease. (thinkgenetic.com)

Both parents have to carry and pass on the mutation for their baby to develop Gaucher disease. (raredisease.net)

Alternative medicine, therapies and treatment options are providing some excellent results for many diseases. (naturalcurefor.com)
Potential for the growth of these diseases markets is substantial due to increasing awareness of these diseases and the high cost of therapies. (pharmaceutical-technology.com)
Our filing occurred in Claremont, CA, at the Keck Graduate Institute's Center for Rare Disease Therapies , at 4pm on Friday in the Founder's Room. (addiandcassi.com)

Oftentimes this accumulation impacts various organs resulting in a serious multisystem disease and premature loss of life [1]. (informationalwebs.com)

Anatomy1

Organisms3

Diseases6

Chemicals and Drugs6

Analytical, Diagnostic and Therapeutic Techniques and Equipment5

Psychiatry and Psychology1

Phenomena and Processes3

Information Science1

Health Care1

Zavesca5

Eliglustat4

Types of Gaucher disease3

People with Gaucher disease6

Glucocerebrosidase9

Substrate3

Cure for Gaucher disease2

Cipaglucosidase alfa3

Imiglucerase3

Lysosomal storage3

Glucosylceramide2

Manifestations3

Acute2

Medication1

United States1

Type35

Symptoms6

Treatments5

Deficiency1

Alfa4

Autosomal recessive3

Diagnosis3

Medicines2

Pompe4

Patients6

Spleen4

Neuronopathic1

Macrophages2

Fractures2

Complications2

Liver1

Clinical2

Biochemical1

Infancy1

Rare diseases1

Pediatrics1

Genetic disorder2

Fatty2

Therapeutic1

Carriers2

Develop1

Therapies3

Accumulation1