Some interesting data was presented at WORLDSymposium from the Gaucher Outcome Survey (GOS), an international registry for patients with a confirmed diagnosis of Gaucher disease.
As of May 30 2016, there were 1,069 patients in GOS. Of these, 589 (55.1%) were female, 941 (88.0%) were ≥ 18 years old at enrollment and 120 (11.2%) had been splenectomized. Most of the patients (96.7%) had Gaucher diseaes type 1.
Elstein et al reported on the medical histories from 852 patients (7,481 separate events) in the GOS database. The most prevalent categories were skeletal events (including osteoporosis and osteonecrosis), reported in 555 (65.1%) patients, abdominal events (including splenomegaly and hepatomegaly) in 497 (58.3%) patients and hematological events (including anemia and thrombocytopenia) in 485 (56.9%) patients.
Deegan et al noted that the GOS included patients receiving all forms of treatment for Guacher disease, including enzyme replacement therapies (alglucerase, imiglucerase, velaglucerase alfa, taliglucerase), substrate reduction therapies (miglustat, eliglustat), and the pharmacological chaperone therapy ambroxol.
Treatment data were available for 647 patients. The most widely used treatments used by patients in the GOS were velaglucerase alfa (316/573, 55.1%) and imiglucerase (184/573, 32.1%).
A total of 453 pregnancies in 189 women with Gaucher disease were reported from January 1959 to July 2015. In most pregnancies (336/453), the women did not receive Gaucher disease treatment during pregnancy. And of those pregnancies, most 92.9% had normal outcomes, 3.6% ended in spontaneous abortion, 3.3% in elective abortion, and 0.3% in neonatal death.
Enzyme replacement therapy was given in 117 of 453 pregnancies. In women who received velaglucerase alfa, 94.4% had normal outcomes and 5.6% ended in spontaneous abortion. Of the 81 pregnancies in women on other ERTs (alglucerase, imiglucerase, or taliglucerase), 90.0% had normal outcomes, 7.5 ended in spontaneous abortion and 2.5% in elective abortion.
Gaucher disease is a rare inherited disorder caused by a deficiency in a particular enzyme. The genetic condition is caused by the inability to make an enzyme, glucocerebrosidase, which breaks down fatty substances in the body. This leads to build up of these substances in many tissues of the body, including the bones, organs, and bone marrow. These substances then prevent cells and organs from working properly.
Gaucher disease can be categorized in three different types:
Type 1 (most common) - involves bone disease, anemia, an enlarged spleen and low platelets (thrombocytopenia), affects both children and adults. This type is also called non-neuronopathic Gaucher disease, because the brain and spinal cord are usually not affected.
Type 2 (severe and life threatening) - known as neuronopathic and begins in infancy with severe neurologic involvement, hypertonia, mental retardation, and apnea. This form can lead to rapid, early death. Most infants will not live past two-years-old.
Type 3 - may cause liver, spleen, and brain problems, muscle twitches known as myoclonus, convulsions, dementia, and ocular muscle apraxia, osteoporosis, yellowish-brown skin pigmentation (People with this type may live into adulthood as symptoms usually show up later in childhood)
It is estimated that approximately 1 in 40,000 to 60,000 people in the general population have type 1 Gaucher disease. However, Gaucher disease is much more common in the Eastern and Central European Ashkenazi Jewish population, where it affects approximately 1 in 850 people.
Elstein D, Belmatoug N, Giraldo P, et al. Medical histories in Gaucher disease: a descriptive analysis from 852 patients in the Gaucher Outcome Survey (GOS). Presented at 13th Annual WORLDSymposium; February 13-16, 2017; San Diego, CA.
Deegan P, Fernanzez-Sasso D, Giraldo P, et al. Treatment patterns from 647 patients with Gaucher disease: an analysis from the Gaucher Outcome Survey. Presented at the 13th Annual WORLDSymposium; February 13-17, 2017. San Diego, CA.
Lau H, Belmatoug N, Deegan P, et al. Reported outcomes of 453 pregnancies in patients with Gaucher disease: an analysis from the Gaucher Outcome Survey. Presented at the 13th Annual WORLDSymposium; February 13-17, 2017; San Diego, CA.