Imiglucerase gaucher disease. Medical search. Frequent questions

The enzyme Imiglucerase (Cerezyme, Genzyme) has been used to treat Type 1 Gaucher disease while the neuronopathic type has been resistant to therapy. (aku.edu)
Cerezyme is a freeze-dried medicine containing imiglucerase, manufactured by Genzyme Corporation. (wikipedia.org)
Cerezyme (imiglucerase for injection) Genzyme product data sheet" (PDF). (wikipedia.org)
Enzyme replacement therapy (ERT) for type 1 Gaucher disease includes imiglucerase (Cerezyme), velaglucerase alfa (VPRIV), and taliglucerase alfa (Elelyso). (medscape.com)
The Cerezyme treatment group from the Gaucher Registry analyses represents patients who received either alglucerase or imiglucerase. (cerezyme.com)
Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study. (cerezyme.com)
Cerezyme treats Type 1 Gaucher disease, an inherited, Jewish genetic disease affecting Jews of Ashkenazic descent. (rxwiki.com)
Cerezyme is a prescription medication used to treat Type 1 Gaucher disease, also known as glucocerebrosidase deficiency, which occurs when a lipid called glucosylceramide accumulates in the bone marrow, lungs, spleen, liver and sometimes the brain. (rxwiki.com)
Cerezyme is a prescription medication used to treat Type 1 Gaucher disease. (rxwiki.com)
The U.S. Food and Drug Administration (FDA) approved alglucerase (Ceredase, Sanofi Genzyme) for use in such patients in 1991, and in 1994 they approved imiglucerase (Cerezyme, Sanofi Genzyme). (medscape.com)
Also tell your doctor or pharmacist if you are taking the following medications: an enzyme replacement therapy such as imiglucerase (Cerezyme), taliglucerase alfa (Elelyso), or velaglucerase alfa (Vpriv). (medlineplus.gov)

The International Collaborative Gaucher Group (ICGG) Gaucher Registry was launched worldwide in 1991 for patients with GD, and was open to enrollment for both treated and untreated patients. (biomedcentral.com)
For the study, online May 31 in the American Journal of Hematology, Dr. Mistry of Yale University School of Medicine, in New Haven, Connecticut, and colleagues analyzed data from the International Collaborative Gaucher Group (ICGG) Registry. (medscape.com)
Consensus Statement by the International Collaborative Gaucher Group (ICGG) U.S. Coordinators on Individualization of ERT for Type-1 Gaucher Disease. (exploremyplan.com)

BACKGROUND: Continuation of standard management of Gaucher disease (GD) has been challenging during the COVID-19 pandemic, resulting in infrequent/missed infusions and follow-up appointments. (bvsalud.org)
Revised recommendations for the management of Gaucher disease in children. (exploremyplan.com)

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)
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)
Velaglucerase alfa might also be less 'immunogenic' than imiglucerase. (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)
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)
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)
Three commercially available ERT products for treatment of GD type 1 (GD1) include imiglucerase, velaglucerase alfa, and taliglucerase alfa. (nih.gov)
Imiglucerase and velaglucerase alfa are produced in different mammalian cell systems and require production glycosylation modifications to expose terminal α-mannose residues, which are needed for mannose receptor-mediated uptake by target macrophages. (nih.gov)
VPRIV® (velaglucerase alfa) for injection is indicated for long-term enzyme replacement therapy (ERT) for patients with type 1 Gaucher disease. (vpriv.com)

Clinical trials have demonstrated that taliglucerase alfa is efficacious, with a well-established safety profile in adult, ERT-naïve patients with symptomatic GD1, and for such patients previously treated with imiglucerase. (nih.gov)

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 disease is an inherited disorder that is caused by the lack of an enzyme called glucocerebrosidase. (europa.eu)
The rare genetic disease occurs in patients who do not produce enough of the enzyme glucocerebrosidase, which causes fatty materials to collect in the spleen, liver, and bone marrow. (pharmacytimes.com)
Gaucher disease (GD) is an autosomal recessive disorder caused by a mutation in the beta-glucocerebrosidase ( GBA ) gene. (bmj.com)
The cause of Gaucher disease is a recessive mutation in a houskeeping gene lysosomal glucocerebrosidase (beta-glucosidase, glucosylceramidase) on chromosome 1 (1q21). (tu-muenchen.de)
It works by replacing the enzyme glucocerebrosidase, which people with Gaucher disease do not have enough of. (rxwiki.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)
Imiglucerase is one of three enzymes that can be given intravenously to supplement the patient's glucocerebrosidase and break down accumulated glucosylceramide. (medscape.com)
Parkinson's Disease: Glucocerebrosidase 1 Mutation Severity Is Associated with CSF Alpha-Synuclein Profiles. (nih.gov)
Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease. (nih.gov)
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)

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)
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)
Substrate reduction therapy (SRT) is an alternative treatment for appropriate adult patients with type 1 Gaucher disease. (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)
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)
Age of onset and clinical manifestations may vary widely among patients with a given lysosomal storage disease, and significant phenotypic heterogeneity between family members carrying identical mutations has been reported. (medscape.com)
Enzyme replacement therapy (ERT) appears safe and effective for peripheral manifestations in patients with Gaucher disease types I and III, Fabry disease, mucopolysaccharidosis I (Hurler, Hurler-Scheie, and Scheie syndromes), mucopolysaccharidosis II (Hunter syndrome), mucopolysaccharidosis VI (Maroteaux-Lamy syndrome), Pompe disease, and recently Batten disease (neuronal ceroid lipofuscinoses, CLN2). (medscape.com)
In general, transplantation yields the best results when performed early in the course of the disease (ie, in an asymptomatic affected sibling of a child with a lysosomal storage disorder), in centers with experience in performing transplantations to treat inherited metabolic disorders, and in patients healthy enough to tolerate the conditioning and transplantation regimen. (medscape.com)
The FDA has granted approval to Genzyme's eliglustat (Cerdelga), the only first-line oral therapy for patients with Type 1 Gaucher disease. (pharmacytimes.com)
In a press release , Amy G. Egan, MD, MPH, deputy director of the FDA Office of Drug Evaluation III, said eliglustat's approval 'offers another important treatment option for patients with Type 1 Gaucher disease. (pharmacytimes.com)
Eliglustat was evaluated in 2 separate clinical studies that enrolled nearly 200 Gaucher disease patients. (pharmacytimes.com)
In the first double-blind, placebo-controlled trial, 40 patients with Type 1 Gaucher disease who had not received prior enzyme replacement therapy were evaluated over a period of 9 months. (pharmacytimes.com)
In the second trial, eliglustat was compared to an enzyme replacement therapy in 159 patients with Type 1 Gaucher disease who had been previously treated and stabilized on the drug imiglucerase. (pharmacytimes.com)
As enzyme replacement therapy is the standard of treatment for Gaucher disease, patients receive regular intravenous infusions for life. (pharmacytimes.com)
Objective To characterise a population-based cohort of patients with Gaucher disease (GD) in Israel relative to the general population and describe sociodemographic and clinical differences by disease severity (ie, enzyme replacement therapy [ERT] use). (bmj.com)
Conclusions Establishing a population-based cohort of patients with GD is essential to understanding disease progression and management. (bmj.com)
The electronic health record (EHR) data enabled the examination of a large, population-based cohort of patients with Gaucher disease (GD). (bmj.com)
Historically, most patients received the recombinant enzyme imiglucerase. (medscape.com)
Severity and rate of disease progression widely varies, especially in adults, which makes treatment decisions extremely difficult in some patients. (medscape.com)
For most patients with Gaucher disease in the United States, treatment with ERT is typically guided by a geneticist or a hematologist. (medscape.com)
Patients should receive periodic follow-up at a center familiar with Gaucher disease, if possible. (medscape.com)
The response of patients to ERT widely varies and does not correlate with genotype, disease severity, splenectomy, or age. (medscape.com)
The symptoms of patients with Gaucher disease who have associated hematologic malignancies respond relatively poorly to ERT. (medscape.com)
The symptoms of patients with decompensated liver disease do not appear to respond well to ERT, and these patients remain at risk for life-threatening hemorrhage due to variceal bleeding. (medscape.com)
Dividing up the data on Gaucher disease patients in to five separate registries benefits nobody. (biomedcentral.com)
Weinreb N, Taylor J, Cox T, Yee J, vom Dahl S. A benchmark analysis of the achievement of therapeutic goals for Type 1 Gaucher disease patients treated with imiglucerase. (cerezyme.com)
Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment. (cerezyme.com)
Patients with antibody to imiglucerase have a higher risk of hypersensitivity reactions. (cerezyme.com)
Enzyme replacement therapy (ERT) appears safe and effective for peripheral manifestations in patients with Gaucher disease types I and III, Fabry disease, mucopolysaccharidosis I (Hurler, Hurler-Scheie, and Scheie syndromes), mucopolysaccharidosis II (Hunter syndrome), mucopolysaccharidosis VI (Maroteaux-Lamy syndrome), and Pompe disease. (medscape.com)
Moreover, a study in USA showed that among 1525 Gaucher patients the diseases non-Hodgkin lymphoma, melanoma and pancreatic cancer occurred at a 2-3 times higher rate. (tu-muenchen.de)
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)
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)
The molecular characterization involved patients' initial screening for the common Gaucher mutation (Leu444Pro). (biomedcentral.com)
Also, an elevated level of plasma Chitotriosidase activity in five patients supported their diagnosis of Gaucher disease. (biomedcentral.com)
This study uncovers two missense variants (Ala448Thr and Val17Gly) not previously reported in Gaucher disease patients. (biomedcentral.com)
NEW YORK (Reuters Health) - Alglucerase/imiglucerase enzyme-replacement therapy (ERT) has reduced the need for potentially harmful procedures in patients with Gaucher disease type 1, according to registry data. (medscape.com)
As Dr. Pramod K. Mistry told Reuters Health by email, "Prior to the introduction of alglucerase/imiglucerase enzyme-replacement therapy for Gaucher disease type 1, patients tended to have had prior splenectomy and destructive skeletal complications, such as bone crises and avascular necrosis. (medscape.com)
After nearly two decades since the introduction of imiglucerase," he added, "the new generation of patients are rarely splenectomized and the prevalence of disabling skeletal complications is strikingly lower. (medscape.com)
The researchers point out that, "In each age group there was a highly significant excess of key manifestations of bone disease (bone crisis, ischemic bone events, and bone pain) in splenectomized patients compared to patients with intact spleen. (medscape.com)
However, they add, "the interval between diagnosis and initiation of ERT has decreased, most strikingly in pediatric patients who have the most severe disease. (medscape.com)
Current treatment algorithms and third party (payer) guidelines largely presuppose that patients will have advanced disease," the team writes. (medscape.com)
ELELYSO is a hydrolytic lysosomal glucocerebroside-specific enzyme indicated for the treatment of patients 4 years and older with a confirmed diagnosis of Type 1 Gaucher disease ( 1 ). (pfizermedicalinformation.com)
Patients who Switched from Imiglucerase, after 9 Months on Treatment (≥10%): arthralgia, headache, pain in extremity ( 6.1 ). (pfizermedicalinformation.com)
Approximately 15% of patients have developed antibodies reactive with imiglucerase during the first year of therapy. (ventln.com)
The Gaucher Registry: Demographics and disease characteristics of 1698 patients with Gaucher disease. (exploremyplan.com)
They also infused imiglucerase 30 to 50 units/kg every 2 weeks in 53 patients. (medscape.com)
After a year, the imiglucerase patients were switched to eliglustat. (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)
In another, results were similar for patients treated with eliglustat for 4 years and those treated with imiglucerase for 4 years. (medscape.com)

VPRIV demonstrated non-inferiority to imiglucerase. (vpriv.com)

Imiglucerase treatment in Gaucher's disease" by Uzma Shah, Naila Nadeem et al. (aku.edu)
Gaucher's disease is an inherited lysosomal storage disorder with a deficiency of the enzyme glucocerbrosidase that manifests with clinical features of anemia, hepato-splenomegaly, skeletal destruction and organ dysfunction due to the accumulation of glucocerbrosides. (aku.edu)
There are several types of Gaucher's disease with varying prognosis and clinical progression of disease. (aku.edu)
Imiglucerase is a medication used in the treatment of Gaucher's disease. (wikipedia.org)
It is given intravenously after reconstitution as a treatment for Type 1 and Type 3 Gaucher's disease. (wikipedia.org)
The genetic disease, Gaucher's disease, causes a disorder of the lipid metabolism. (tu-muenchen.de)
There exist three phenotypic expressions of the Gaucher's disease. (tu-muenchen.de)
The most common type of the Gaucher's disease has also the mildest illnes degree. (tu-muenchen.de)
The Type III of Gaucher's disease begins in childhood or adolescence. (tu-muenchen.de)
According to National Gaucher Foundation (USA) nearly 1 person in 20,000 has Gaucher's disease. (tu-muenchen.de)
Type II Gaucher's disease does not seem to be preferentially represented by a specific ethnic group. (tu-muenchen.de)
Type III Gaucher's disease occurs most frequently in the northern Swedish region of Norrbotten. (tu-muenchen.de)
Diagnosis of Gaucher's disease is possible. (tu-muenchen.de)
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)
Although Gaucher's disease is pan-ethnic, type 1 is the most common inherited Jewish genetic disease. (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)

Cerdelga is an important new option for people living with Gaucher disease Type 1," said Rhonda Buyers, CEO of the National Gaucher Foundation, in a press release . (pharmacytimes.com)

The macrophages that are affected by such a accumulation are called Gaucher cells. (tu-muenchen.de)
Therefore, the waste product accumulates in fibrils and turns into so called Gaucher cells (that resemble crumpled-up paper on light microscopy). (tu-muenchen.de)

Miglustat appears to increase the clearance of imiglucerase by 70%, resulting in decreased enzyme activity. (wikipedia.org)
Drug interactions between imiglucerase and miglustat. (wikipedia.org)
At the time of designation, two medicines, imiglucerase and miglustat, were authorised for the treatment of Gaucher disease in the EU. (europa.eu)
Miglustat was approved in 2003 as monotherapy for treatment of adults with mild-to-moderate type 1 Gaucher disease for whom enzyme replacement therapy is not a therapeutic option. (medscape.com)

We used Imiglucerase 60 microg/kg every 2 weeks in one patient with Type 1 Gaucher disease and followed hepatic, splenic volumes and blood counts. (aku.edu)
Failure to thrive, swallowing abnormalities, oculomotor apraxia, hepatosplenomegaly, and stridor due to laryngospasm are typical in infants with type 2 disease. (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)
Eliglustat was approved in August 2014 as first-line treatment for the long-term treatment of adults with Gaucher disease type 1. (medscape.com)
Most children with this type of Gaucher won't reach the age of five. (tu-muenchen.de)
The disease progress is slower than in type II. (tu-muenchen.de)
The Rare Disease Registries (RDR) (for Gaucher, Fabry, Mucopolysaccharidosis type I, and Pompe), represent the largest observational database for these LSDs. (biomedcentral.com)
Similarly, the Fabry Registry (ClinicalTrials.gov ID NCT00196742, 2001), Mucopolysaccharidosis type I (MPS I) Registry (ClinicalTrials.gov ID NCT00144794, 2003), and Pompe Registry (ClinicalTrials.gov ID NCT00231400, 2004) (hereafter referred to as 'the Rare Disease Registries [RDRs]') were launched as ERTs became available for these disorders. (biomedcentral.com)
Type 1 Gaucher disease is a rare inherited condition, and common symptoms include increased spleen and liver size, and low hemoglobin level ( anemia ) and low platelet count. (rxwiki.com)
Type 2 Gaucher disease causes premature death. (msdmanuals.com)
Type 1 Gaucher disease, the chronic form of Gaucher disease, is the most common and usually begins during childhood. (msdmanuals.com)
Type 1 Gaucher disease may lead to severe liver disease, including increased risk of bleeding from the stomach and esophagus and liver cancer. (msdmanuals.com)
Type 2 Gaucher disease is the rarest form. (msdmanuals.com)
Type 3 Gaucher disease, the juvenile form, can begin at any time during childhood. (msdmanuals.com)
For long-term enzyme replacement therapy for type I Gaucher disease that results in one or more of the following problems: anemia, low platelet counts, bone disease and deterioration, enlargement of the liver or spleen. (ventln.com)
Rare diseases affect about 30 million Americans - roughly the same number as those with type 2 diabetes. (gaucherdiseasenews.com)
Eliglustat is used to treat Gaucher disease type 1 (a condition in which a certain fatty substance is not broken down normally in the body and builds up in some organs and causes liver, spleen, bone, and blood problems) in certain people. (medlineplus.gov)
tell your doctor if you have or have ever had long QT syndrome (condition that increases the risk of developing an irregular heartbeat that may cause fainting or sudden death), or another type of irregular heartbeat or heart rhythm problem, or if you have or have ever had a heart attack, heart failure, or heart, or kidney disease. (medlineplus.gov)
Type 2 (acute infantile neuropathic Gaucher disease) is rare and causes severe, irreversible brain damage quickly. (raredisease.net)
Type 3 (chronic neuropathic Gaucher disease) is rare in the United States and Europe but is the most common form globally. (raredisease.net)
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)

Eliglustat inhibits the metabolic process that forms the production of the fatty materials in those with the disease, which currently affects approximately 6000 people in the United States. (pharmacytimes.com)
The trial found eliglustat treatment offered the same stabilization of hemoglobin level, platelet count, and spleen and liver volume as imiglucerase therapy. (pharmacytimes.com)
Eliglustat controls Gaucher disease but does not cure it. (medlineplus.gov)
Based on the results of your blood test to determine your genetic make-up, your doctor may tell you not to take eliglustat as certain people should not take the medication alone or in combination with other medications, if they have liver disease, or if they have a combination of certain medical conditions and medications. (medlineplus.gov)
He and his colleagues conducted a comparison of eliglustat and imiglucerase. (medscape.com)
Adverse events were more common in the eliglustat group than in the imiglucerase group, but most were mild reactions, such as fatigue, diarrhea, and nausea. (medscape.com)

Initiate ELELYSO intravenous treatment (60- to 120-minute infusion) with the same units/kg imiglucerase dosage and subsequently administer ELELYSO every other week. (pfizermedicalinformation.com)
If it is acceptable to switch from a stable imiglucerase dosage to ELELYSO, initiate ELELYSO intravenous treatment (60- to 120-minute infusion) with the same units/kg imiglucerase dosage and subsequently administer ELELYSO every other week. (pfizermedicalinformation.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 ICGG Gaucher Registry (ClinicalTrials.gov ID NCT00358943, 1991) was initiated in response to regulatory commitments to establish a patient base to collect real-world data (RWD) to generate real-world evidence (RWE) for effectiveness and safety of ERT, as well as assessing the natural history of the disease. (biomedcentral.com)
Dr. Timothy M. Cox of Addenbrooke's Hospital Cambridge, U.K., an expert in metabolic diseases, told Reuters Health by email, "While the ICGG Registry is comprehensive, like nearly all company registries (it has) are 'holes' and 'gaps. (medscape.com)

More recently, the concept of lysosomal storage disease has been expanded to include deficiencies or defects in proteins necessary for the normal post-translational modification of lysosomal enzymes (which themselves are often glycoproteins), activator proteins, or proteins important for proper intracellular trafficking between the lysosome and other intracellular compartments. (medscape.com)
On the assessment of metabolic profile, elevated total/direct bilirubin and liver enzymes were more commonly seen in NP/NP-like diseases when compared with GD. (bvsalud.org)
Lysosomal storage disorders (LSD) are rare diseases, caused by inherited deficiencies of lysosomal enzymes/transporters, that affect 1 in 7000 to 1 in 8000 newborns. (biomedcentral.com)
Gaucher disease occurs when the body lacks enzymes needed to break down glucocerebrosides. (msdmanuals.com)

Accumulated data indicate that hematopoietic stem cell transplantation may be effective under optimal conditions in preventing the progression of central nervous system symptoms in neuronopathic forms of lysosomal storage diseases (such as Krabbe disease), including some of the mucopolysaccharidoses, oligosaccharidoses, sphingolipidoses, and lipidoses as well as peroxisome disorders such as X-linked adrenoleukodystrophy. (medscape.com)
Accumulated data indicate that hematopoietic stem cell transplantation may be effective under optimal conditions in preventing the progression of central nervous system symptoms in neuronopathic forms of lysosomal storage diseases, including some of the mucopolysaccharidoses, oligosaccharidoses, sphingolipidoses, and lipidoses. (medscape.com)
Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring. (exploremyplan.com)

Lysosomal storage diseases describe a heterogeneous group of dozens of rare inherited disorders characterized by the accumulation of undigested or partially digested macromolecules, which ultimately results in cellular dysfunction and clinical abnormalities. (medscape.com)
This has led to active clinical trials evaluating the safety and efficacy of intrathecal enzyme delivery in several lysosomal storage diseases (see www.ClinicalTrials.gov ). (medscape.com)
Imaging and clinical notes were not available in the EHR, thus limiting the ability to evaluate treatment needs and track disease management. (bmj.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)
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)
Additionally, recognizing that there was a limited understanding of the natural history, disease progression, and real-world clinical outcomes of rare LSDs, a collaborative partnership was pioneered 30 years ago to address these gaps. (biomedcentral.com)
Thirty years ago, it was recognized that there was a very limited understanding of the full clinical spectrum and natural history of rare LSDs, such as Gaucher disease (GD). (biomedcentral.com)
Though the disease is mainly diagnosed in childhood, the adult manifestation is often missed or identified late due to the failure to recognize the heterogeneous clinical presentation. (biomedcentral.com)

Imiglucerase is an 'enzyme replacement therapy' that works by replacing the missing enzyme. (europa.eu)

Gaucher Disease: Recommendations on Diagnosis, Evaluation and Monitoring (Special Article). (exploremyplan.com)
Recommendations on diagnosis, treatment, and monitoring for Gaucher disease. (exploremyplan.com)

The disease befalls both females and males and is inherited in autosomal recessive manner. (tu-muenchen.de)
Gaucher disease (GD, OMIM#230800) is a rare autosomal recessive Lysosomal storage disorder (LSDs) which occurs due to an increased accumulation of undegraded glycolipid glucocerebroside in lysosomes [ 1 ]. (biomedcentral.com)

Classically, lysosomal storage diseases encompassed only enzyme deficiencies of the lysosomal hydrolases. (medscape.com)
More than 50 lysosomal storage diseases have been described, some of which are discussed in this article. (medscape.com)
Lysosomal storage diseases are generally classified by the accumulated substrate and include the sphingolipidoses, oligosaccharidoses, mucolipidoses, mucopolysaccharidoses (MPSs), lipoprotein storage disorders, lysosomal transport defects, neuronal ceroid lipofuscinoses and others. (medscape.com)
Thus far, ERT has been largely unsuccessful in improving central nervous system manifestations of the lysosomal storage diseases, putatively due to difficulty in penetrating the blood-brain barrier. (medscape.com)
The availability of both ERT and hematopoietic stem cell transplantation has prompted ongoing consideration of newborn screening efforts to diagnose lysosomal storage diseases. (medscape.com)
Lysosomal storage diseases (LSD) are a prototype of rare diseases, characterized by aberrant storage/processing of a variety of substrates in tissues and organs [ 1 , 2 ]. (biomedcentral.com)

Imiglucerase is a recombinant macrophage targeted acid β-glucosidase that replaces the deficient enzyme activity, hydrolysing glucosylceramide, thus correcting initial pathophysiology and preventing secondary pathology. (rxreasoner.com)

Treatment with Imiglucerase resulted in a decrease in splenic size, reduced requirements for transfusions and an improvement in cardiopulmonary symptoms. (aku.edu)
With FDA's approval of a first-line oral treatment, Cerdelga has the potential to be a valuable treatment option for people living with this serious disease. (pharmacytimes.com)
Generally, children who present symptomatically, rather than because of family history, may have severe disease manifestations that require early treatment. (medscape.com)
Presymptomatic treatment with ERT remains controversial because of the lack of prognostic correlation between genotype and disease severity and the high cost of the therapy. (medscape.com)
Skeletal disease is the slowest to respond, with symptomatic improvement described by some within the first year of treatment, although a much longer period of ERT is required to achieve a radiologic response. (medscape.com)
Therapeutic goals in the treatment of Gaucher disease. (exploremyplan.com)
There is no treatment for the brain damage caused by Gaucher disease types 2 and 3. (raredisease.net)
Prior to the approval of fosdenopterin, the only available treatment options included supportive care and therapies directed towards complications arising from the disease. (conduent.com)

[ 7 ] This preparation is highly effective in reversing the visceral and hematologic manifestations of Gaucher disease. (medscape.com)
Rare diseases typically demonstrate heterogeneous disease manifestations, complex natural history, and variable genotype/phenotype correlations. (biomedcentral.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)

Gaucher disease is a rare genetic disorder characterized by the deposition of glucocerebroside in cells of the macrophage-monocyte system. (medscape.com)
Gaucher disease (GD) is a rare, genetic lysosomal storage disorder caused by functional defects of acid β-glucosidase that results in multiple organ dysfunction. (nih.gov)
He has a particular interest in Gaucher disease, an inherited disorder in which fatty substances build up in certain organs. (yalemedicine.org)
ERT has been successfully developed and approved for use in Gaucher disease, a lysosomal storage disorder like Sanfilippo, which also involves the build-up of material due to an enzyme deficiency. (sanfilippo.org.au)
Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased accumulation of undegraded glycolipid glucocerebroside inside the cells' lysosomes. (biomedcentral.com)
Gaucher (go-SHAY) disease is a rare, inherited genetic disorder . (raredisease.net)

In addition to its approval, Cerdelga received orphan drug designation from the FDA, "reflecting the agency's focus and commitment to the development of treatments for rare diseases," added Dr. Egan. (pharmacytimes.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)
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)

Carriers of GBA1 gene variants have a significant risk of developing Parkinson's disease (PD). (bvsalud.org)
a 5-fold risk to develop Parkinson's disease, which is the highest known risk-factor. (tu-muenchen.de)
They are also studying a protein that builds up in Gaucher disease, Parkinson's disease, and Lewy body dementia. (raredisease.net)

However, skeletal disease is slow to respond, and pulmonary involvement is relatively resistant to the enzyme. (medscape.com)
Improvement in skeletal disease (e.g., increase in lumbar spine and/or femoral neck BMD, no bone crises or bone fractures, etc. (exploremyplan.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)

The population screening for common Gaucher disease mutation (Leu444Pro) was executed in 1200 unrelated and healthy Indian subjects by Restriction Fragment Length Polymorphism-Polymerase Chain Reaction technique. (biomedcentral.com)
Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA. (nih.gov)
Gaucher disease is caused by a change (mutation) in the GBA gene. (raredisease.net)
Both parents have to carry and pass on the mutation for their baby to develop Gaucher disease. (raredisease.net)

Imiglucerase has been granted orphan drug status in the United States, Australia, and Japan. (wikipedia.org)
Existing drug registries for evaluation of the effectiveness of treatments for some orphan diseases have certain limitations in this respect. (biomedcentral.com)

Bioactive sphingolipids in health and disease: lipidomic analysis, metabolism and roles in membrane signaling and autophagy. (sphingolipidclub.com)
In Gaucher disease, glucocerebrosides, which are a product of fat metabolism, accumulate in tissues. (msdmanuals.com)

Sanfilippo is a genetic disease that results in a form of childhood dementia. (sanfilippo.org.au)

In this study, we aim to classify LSDs into two broad categories, namely, Gaucher disease (GD) and Niemann-Pick/Niemann-Pick-like diseases (NP/NP-like diseases) based on the morphology of the storage cells in the bone marrow (BM) aspiration smears and trephine biopsy sections. (bvsalud.org)
Conclusion: We have classified LSDs into GD and NP/NP-like diseases based on the morphology of the storage cells in the BM specimen. (bvsalud.org)

The disease occurs when the lipid glucosylceramide accumulates in the bone marrow, lungs, spleen, liver, and sometimes the brain. (medscape.com)

tell your doctor if you have liver disease. (medlineplus.gov)
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)

it resulted in accelerated disease in bone and in other organs as well as life-threatening complications such as pulmonary hypertension. (medscape.com)
Many questions remain for interrogation (incidence of complications beyond skeleton, including at-risk cancers) but the enigmatic pathogenesis of the disease remains mysterious and ripe for continuing study," added Dr. Cox, who was not involved in the study. (medscape.com)

By delivering the functional enzyme into the cell to degrade HS, it may be possible to minimise or even halt disease progression. (sanfilippo.org.au)

Diseases1

Chemicals and Drugs1

Analytical, Diagnostic and Therapeutic Techniques and Equipment2

Cerezyme11

International Collaborative Gaucher Group3

Management of Gaucher disease2

Velaglucerase10

Taliglucerase alfa1

Glucocerebrosidase11

People with Gaucher disease3

Patients51

VPRIV1

Gaucher's Disease16

National Gaucher Foundation1

Called Gaucher cells2

Miglustat4

Type21

Eliglustat6

Elelyso2

Fabry1

ICGG2

Enzymes4

Neuronopathic3

Clinical9

Replacing the missin1

Diagnosis2

Autosomal recessive2

Lysosomal storage6

Recombinant1

Treatment8

Manifestations3

Disorder6

Rare diseases3

Parkinson's3

Skeletal2

20001

Mutation4

Orphan2

Metabolism2

Genetic disease1

LSDs2

Occurs1

Liver disease2

Complications2

Progression1