Gaucher’s disease is the most common genetic disease affecting Ashkenazi Jewish people (Eastern, Central and Northern European ancestry), with a carrier frequency of ten percent. Today however, a new drug formulated by Protalix BioTherapeutics, Inc. has received bad news from the FDA in a response stating that the company’s test reporting needs to be more detailed and clear.
Dr. David Aviezer, Protalix’s President and Chief Executive Officer states:
“While we are disappointed by the receipt of the Complete Response Letter, we appreciate the FDA’s efforts to complete the review of our New Drug Application (NDA). We noted that the FDA did not request additional clinical studies. Moreover, the FDA inspected our manufacturing facilities finding them acceptable. FDA also did not identify any issues in its audit of our clinical sites. Protalix will work with the FDA to determine next steps.”
Gaucher’s Disease results from a specific enzyme deficiency in the body, caused by a genetic mutation received from both parents. The disease course is quite variable, ranging from no outward symptoms to severe disability and death. Carrier status can be detected through blood or saliva to identify potential carriers of the Gaucher’s gene. Gaucher’s disease can be diagnosed early through a blood test. Fortunately, effective treatments are available for some variants of the disease.
The lack of the glucocerebrosidase enzyme causes harmful substances to build up in the liver, spleen, bones, and bone marrow. The substances prevent cells and organs from working properly. Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may be painful, severe neurologic complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelets and yellow fatty deposits on the white of the eye (sclera).
Medilexicon.com describes the condition:
“Gaucher’s disease is a lysosomal storage disorder due to a deficiency of glucocerebrosidase resulting in accumulation of glucocerebroside; high incidence among Ashkenazi Jews; occurs most severely in infants, characterized by hepatosplenomegaly, hematologic abnormalities, bone lesions, neurologic manifestations with ataxia, spastic paraplegia, seizures, dementia, and presence of characteristic histiocytes (Gaucher’s cells) in the viscera; autosomal recessive inheritance, caused by mutation in the glucocerebrosidase A gene (GBA) on chromosome 1q. There are three main forms: type I, noncerebral juvenile [MIM*230800]; type II, cerebral juvenile [MIM*230900]; and type III, adult cerebral [MIM*231000]; the juvenile forms are most severe.”
Persons affected most seriously may also be more susceptible to infection. Some forms of Gaucher’s disease may be treated with enzyme replacement therapy.
About 1 in 100 people in the United States are carriers of the most common type of Gaucher’s disease, while the carrier rate among Ashkenazi Jews is 8.9% while the birth incidence is about 1 in 450.
On November 30, 2009, Pfizer and Protalix BioTherapeutics, Inc. entered into an agreement to develop and commercialize taliglucerase alfa. David Simmons, President and General Manager, Emerging Markets and Established Products Business Units, Pfizer Inc. comments:
“Pfizer remains dedicated to the Gaucher’s community worldwide. We will work closely with Protalix to address the requests from the FDA in a timely manner by providing technical, analytical and regulatory expertise.”
Source: News Release
Written by Sy Kraft, B.A.