Rare, neurologic diseases often do not have viable treatments. Gaucher disease and Parkinson’s disease are two examples. In situations like these, medical professionals look to treatments for other conditions, such as cancer. That is exactly what the University of Cincinnati is studying. SapC-DOPS, a therapy delivery system, was originally created for the treatment of glioblastoma, but it has now been linked to the treatment of Gaucher disease and Parkinson’s.
About Gaucher Disease
Gaucher disease is a lysosomal storage disorder. The enzyme beta-glucocerebrosidase has extremely low or no activity, and it leads to the accumulation of a lipid called glucocerebroside. This buildup causes damage to the tissue and organs. The GBA gene is mutated in those who have this disease, and it is responsible for the production of beta-glucocerebrosidase. It is passed down in an autosomal recessive pattern, meaning a child must inherit the mutated version of the gene from both parents. The incidence of the general population is one of every 60,000 people, but it is more common within the Ashkenazi Jewish population.
Gaucher disease comes in multiple different types, which vary in symptoms and severity. Type I is characterized by an enlarged liver or spleen, anemia, easy bruising, and various bone issues like pain, fracturing, and arthritis. Lung disease is a less common symptom of this type. Types II and III affect the central nervous system (CNS), and they present all of the symptoms of type I. Along with these effects, those with types II and III may also experience unusual eye movements, seizures, and brain damage. Type II is the most severe of the three, as it progresses rapidly and is fatal. While many symptoms are present in all types, it is important to remember that different individuals present various symptoms with differing severity.
This disease is diagnosed with enzyme assay through a blood test or genetic testing. While both of these things can diagnose someone with Gaucher disease, the combination of the two are necessary to diagnose the specific type. Once one has been diagnosed, treatments vary depending on the type of Gaucher disease. For type II there are no treatments, but symptoms can be managed. Enzyme replacement therapy or oral medications exist for those with types I and III.
About Parkinson’s Disease
Parkinson’s disease is a progressive disorder that affects the central nervous system (CNS). It is characterized by its effect on movement through five different stages. As the disease progresses, severity increases. Stage one is characterized by subtle tremors on one side of the body. In stage two symptoms are more noticeable, with tremors and rigidity on both sides of the body. Stage three brings loss of balance and slow movement, while stage four makes it impossible for one to live independently. Stage five is the most severe, as patients cannot stand or walk. Hallucinations and delusions are common symptoms of this stage.
Parkinson’s disease occurs due to the death of motor neurons, some of which produce dopamine. Dopamine is important in the transmittance of messages to the muscles from the brain, so the loss of dopamine results in the loss of motor functions. Abnormal brain activity occurs when these neurons are lost. Doctors do not know why these motor neurons die, but they do suspect a few factors that play a role, such as genetics, environmental factors like toxins, and Lewy bodies.
There are no FDA approved therapies for Parkinson’s, and treatment is symptomatic. Treatment options include dopamine substitutes, carbidopa-levodopa, MAO-B inhibitors, catechol-O-methyltransferase (COMT) inhibitors, anticholinergics, and amantadine.
About the Study
Xiaoyang Qi, who teaches in the Division of Internal Medicine at UC, is leading this study. He and his team are evaluating SapC-DOPS, which is a combination of a cell protein and phospholipid. It is able to target specific cells to deliver therapy, leaving all healthy tissue alone. He began studying this therapy delivery system in nanovesicle cancer models, which advanced to human models of glioblastoma. It is currently being tested for this indication in clinical trials.
SapC-DOPS penetrates the brain using a receptor and the lymphatic circulation system. It then works to deliver an enzyme to the tissue that needs it, avoiding the cells that are healthy. It has been found to reduce inflammation and neurological issues.
Researchers have spoken about the possibilities that this treatment brings. SapC-DOPS can be indicated in a number of conditions, giving it a high potential to better the lives of many.
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