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  • patients
  • While the connection between Gaucher disease and Parkinson disease is unclear, researchers have postulated that the accumulation of lipids in the central nervous system that occurs in patients with Gaucher disease may cause damage to dopaminergic neurons in the brain that leads to the development of Parkinson disease. (britannica.com)
  • The approval of VPRIV will provide a safe and effective alternative treatment for patients with Gaucher disease," said Julie Beitz, M.D., director of the FDA's Office of Drug Evaluation III. (medicalnewstoday.com)
  • This review article also discusses the rates of occurrence of neurological, pulmonary and cardio-vascular disease in Gaucher disease patients. (lulu.com)
  • The bleeding tendency is usually considered to be secondary to thrombocytopenia However 50,000 platelets are enough in healthy people to give a normal bleeding time but are associated with significant bleeding tendencies in Gaucher patients. (clinicaltrials.gov)
  • The aim of this study is to define the etiology of platelet dysfunction in Gaucher patients. (clinicaltrials.gov)
  • Measure thrombocytopathy in a cohort of 70 Gaucher patients using a set of platelet function tests. (clinicaltrials.gov)
  • 70 Gaucher patients managed (treated and untreated controls) will be subjected to a panel of platelets function tests (aggregation test, closure time and FACS analysis). (clinicaltrials.gov)
  • Identifying thrombocytopathy among a cohort of 70 Gaucher patients managed (treated and untreated) in our clinic using a panel of platelets function tests. (clinicaltrials.gov)
  • Patients included may be those who are untreated, naive to therapy, individuals who are currently or have been previously treated with velaglucerase alfa (VPRIV), or individuals who have been receiving or are currently exposed to other treatments for Gaucher disease. (clinicaltrials.gov)
  • Our intent is to determine if existing patient data can successfully be utilized to aid in the identification of patients with rare genetic disease. (clinicaltrials.gov)
  • The Gauchers Association is managed by a Board of six Directors consisting of Gaucher patients, their parents and their relatives. (gaucher.org.uk)
  • Although enzyme replacement therapy has improved the life expectancy and quality of life for many patients, there is no evidence that it crosses the blood brain barrier and the neurological aspects of this disease are being increasingly seen. (gaucher.org.uk)
  • The neurological aspects of the disease remain challenging for patients and their families and present an unknown future regarding quality of life, life expectancy, ability to function in society and the impact on education. (gaucher.org.uk)
  • Disease or patient registries are collections of secondary data related to patients with a specific diagnosis, condition, or procedure, and they play an important role in post marketing surveillance of pharmaceuticals. (wikipedia.org)
  • Some specialty pharmacies deal in pharmaceuticals that treat complex or rare chronic conditions such as cancer, rheumatoid arthritis, hemophilia, H.I.V. psoriasis, inflammatory bowel disease (IBD) or Hepatitis C. "Specialty pharmacies are seen as a reliable distribution channel for expensive drugs, offering patients convenience and lower costs while maximizing insurance reimbursements from those companies that cover the drug. (wikipedia.org)
  • For example, in the lysosomal storage diseases, patients with a pseudodeficiency allele show greatly reduced enzyme activity, yet they remain clinically healthy. (wikipedia.org)
  • This poses a challenge in genetic testing, making it difficult to distinguish between patients who are at risk of developing the disease and those who are healthy carriers of a pseudodeficiency mutation. (wikipedia.org)
  • Veletri (epoprostenol for injection): is approved by the U.S. Food and Drug Administration (FDA) for the long-term intravenous treatment of primary pulmonary hypertension and pulmonary hypertension associated with the scleroderma spectrum of disease in NYHA Class III and Class IV patients who do not respond adequately to conventional therapy. (wikipedia.org)
  • Ashkenazi Jews
  • About 1 in 1,000 in Ashkenazi Jews are affected by this disease, and about 1 in 12 Ashkenazi Jews are carriers. (healthcentral.com)
  • For example, while Tay-Sachs screening was able to nearly eliminate Tay-Sachs disease among Ashkenazi Jews, similar screening in the general population has proven less effective. (wikipedia.org)
  • neurological
  • An interview with Dr. Peggy Taylor, discussing the biggest neurological research questions of today and how BioLegend is helping to develop new biomarkers for neurological disease. (news-medical.net)
  • bone
  • A second form of treatment is bone marrow transplantation, although this carries more risk and is generally not performed on individuals with Gaucher. (brighthub.com)
  • severe
  • In contrast to the profound defects in the thymus, there were only limited cellular defects in peripheral lymphoid organs, mainly restricted to mice with severe disease. (nih.gov)
  • lipid
  • As the lipid accumulates, the glucosyl ceramide gets stored in macrophages (the scavenges cells of the body), which takes up characteristic appearance unique to those affected with this disorder ('Gaucher Cells' - basically termed as). (pharmainfo.net)
  • physician
  • In its simplest form, a disease registry could consist of a collection of paper cards kept inside "a shoe box" by an individual physician. (wikipedia.org)
  • severity
  • These changes correlated strongly with disease severity. (nih.gov)
  • The cellular changes in GCase deficiency were accompanied by elevated T-helper (Th)1 and Th2 cytokines that also tracked with disease severity. (nih.gov)
  • Profound changes in thymic immune cells in GBA1-deficient mice correlate with disease severity. (nih.gov)
  • Shire
  • This study also contains company profiling, product picture and specifications, sales, market share and contact information of various international, regional, and local vendors of United States Gaucher Disease Market, some of them are Sanofi, Shire, Actelion Pharma, Pfizer & ISU Pharm . (medgadget.com)
  • disorders
  • Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism. (wikipedia.org)
  • Traditionally the inherited metabolic diseases were classified as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases. (wikipedia.org)
  • Termeer created a business model adopted by many others in the biotech industry by garnering steep prices- mainly from insurers and government payers- for therapies for rare genetic disorders known as orphan diseases that mainly affect children. (wikipedia.org)
  • treatment
  • Enzyme replacement therapy (ERT) is the main treatment for Gaucher disease. (medicinenet.com)
  • In order to tailor treatment to individuals, we need an improved understanding of the disease mechanisms," said senior author of the study, Pramod Mistry, M.D., professor of pediatrics and internal medicine at Yale School of Medicine. (redorbit.com)
  • Actelion currently has 10 compounds in its pipeline - including 3 in late-stage development - and 4 medicines on the market for orphan diseases: Tracleer (bosentan): Tracleer was the first oral treatment approved for pulmonary arterial hypertension, a rare, chronic, life-threatening disorder that severely compromises the functions of the lungs and heart. (wikipedia.org)
  • rare
  • Termeer was named as one of the top fifty leaders of thought in orphan drugs and rare diseases in a list published by Terrapin for the World Orphan Drug Congress which included "eminent personalities that have advanced rare disease research. (wikipedia.org)
  • He will always be known as the guy who figured out how to build a great business by making drugs for rare diseases. (wikipedia.org)
  • An inspiration and pioneer, many of his protégés have since moved on to lead other successful companies in the rare disease and biotech space thanks to his influence. (wikipedia.org)
  • FDA rejects Actelion's Zavesca for rare NP-C disease Archived 2014-09-03 at the Wayback Machine. (wikipedia.org)
  • Osteochondrodysplasias are rare diseases. (wikipedia.org)
  • occurs
  • In medical genetics, a false positive result occurs in an enzyme assay test when test results are positive, but disease or morbidity is not present. (wikipedia.org)
  • The enzyme assay may be valid, but understanding of the disease and the metabolic pathway in which it occurs may be incorrect or incomplete. (wikipedia.org)
  • metabolic disease
  • Niemann-Pick disease Because of the enormous number of these diseases and wide range of systems affected, nearly every "presenting complaint" to a doctor may have a congenital metabolic disease as a possible cause, especially in childhood. (wikipedia.org)
  • treatments
  • With this knowledge, we can look forward to developing treatments that are directed not only to macrophages, but to all cell types involved in the disease process. (redorbit.com)
  • cause
  • SCARB2 is a receptor for two viruses that cause hand, foot, and mouth disease in children, Enterovirus 71 and Coxsackievirus A16. (wikipedia.org)