An ongoing clinical trial in the United Kingdom aims to determine factors that may predict the severity of Gaucher disease (GD) in adults and children, along with patients’ response to therapy. It focuses particularly on how Gaucher may lead to other diseases of the bone and brain, or to cancer.
The observational study (NCT03240653) is for patients with GD type 1 or type 3, and is still recruiting participants ages 5 and older. It began in January 2014.
Type 1 Gaucher is the most common form of the disease. Patients are generally anemic — have a low red blood cell count — and tired, and have a tendency to bruise easily and, increasingly, to bleed. But symptoms in type 1 patients can vary widely, ranging from none at all to those that are quite serious. And symptoms can first appear in infancy or adulthood.
Gaucher types 2 and 3, in contrast, are more often diseases of infancy and childhood, and affect the brain and spinal cord. Type 2 is the more severe, with children rarely surviving beyond 2 years of age.
All GD patients are at higher risk of developing other diseases, including myeloma — a cancer that affects white blood cells, which are key immune system cells — and Parkinson’s disease. Parkinson’s, a progressive disorder of the nervous system, arises when nerve cells in the brain fail to produce enough of a brain chemical called dopamine. Lack of this neurotransmitter affects a patient’s motor skills, impairing the coordination of movement, behavior, learning and memory.
Researchers plan to collect clinical information from 250 enrolled patients, including data on additional disorders like Parkinson’s or myeloma. They will also evaluate response to a common treatment for GD types 1 and 3, enzyme replacement therapy, used to minimize symptoms and slow disease progression.
In the trial, sponsored by the University of Cambridge, researchers’ primary goal is to determine patients’ clinical history, including their cognitive function and neurological status, bone involvement, and disease severity. Secondary goals include assessing quality of life.
A patient’s past and on-going medical records are the researchers’ main source of information, but they also will take blood samples to perform biochemical tests solely for the purpose of this research. Participants will also be asked to complete questionnaires about physical and social abilities, mental health, and quality of life.
Researchers expect to finish collecting data for primary outcome measures in September, but the study will continue through 2020.