The company is focused on the development of its gene therapy candidate, AVR-RD-01, in Fabry disease, as well as additional gene therapy programmes in other lysosomal storage disorders including Gaucher disease
, cystinosis and Pompe disease.
As Beutler commented in a paper written shortly after CerezymeA(r) received FDA approval, as ERT for Gaucher Disease
"The high cost of alglucerase has created difficult problems for patients in developed countries and impossible ones in under-developed countries".
Vitrectomy for vitreous opacities and macular pucker in Gaucher disease
With a portfolio of products for the treatment of Phenylketonuria, Gaucher Disease
, Niemann Pick Type C, Hereditary Tyrosinemia Type 1, Urea Cycle Disorders and others, Dipharma SA works to provide solutions for people affected by inborn metabolic diseases at an affordable cost and with a global reach.
Mesenteric and mediastinal lymphadenopathy in Egyptian children with gaucher disease
types 1 and 3 treated with enzyme replacement therapy.
Additionally, the report provides an overview of key players involved in therapeutic development for Gaucher Disease
and features dormant and discontinued projects.
Cerdelga is reportedly the only first-line oral therapy for certain adult Gaucher disease
type 1 patients and Genzyme was selected for bringing an additional treatment option to patients with Gaucher disease
, an inherited condition affecting fewer than 10,000 people worldwide.
Few data on the frequency of Gaucher disease
during reproductive age and pregnancy can be found in the literature and prevalent data have been reported in The Netherlands (2 per 100,000 live births), in Australia (1 per 57,000 live births) and Portugal (3 per 100,000 live births) (2).
Cerdelga is a specific ceramide analogue inhibitor of glucosylceramide synthase (IC50 = 10 ng/mL), designed to reduce the production of glucosylceramide, the substance that builds up in the cells and tissues of people with Gaucher disease
POINTING out that "just because someone is poor, the government cannot allow him to die", the Delhi High Court on Thursday directed the Delhi government to discharge its "constitutional obligation" and provide free treatment to a Gaucher disease
Other approvals include new drugs to treat Gaucher disease
, short bowel syndrome, cystic fibrosis, multiple sclerosis, Cushing's disease, epilepsy, several forms of leukemia, kidney cancer, thyroid cancer, basal cell carcinoma, and AIDS.
October 15, 2012 -- A new method of using adult stem cells as a model for the hereditary condition Gaucher disease
could help accelerate the discovery of new, more effective therapies for this and other conditions such as Parkinson's, according to new research.
For the first time in the medical history of India, Gaucher Disease
Day was observed by Lysosomal Storage Disorder Support Society (LSDSS) and the All India Institute of Medical Sciences (AIIMS), Delhi.
The original UK 2005 National Guidelines for Gaucher Disease
(1,2) are based on limited natural history and literature available at that time.
Cardiac involvement is rare in Gaucher disease
and may be in the form of pulmonary hypertension, constrictive pericarditis, pericardial calcifications, various valvular lesions and infiltration of the myocardium.