CytRx Corporation has released the results of the second phase of their study of arimoclomol as a treatment for Gaucher disease. The data was positive, and it demonstrated this therapy’s ability to cross the brain-blood barrier. Arimoclomol was also able to meet secondary endpoints.
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 therapy is meant to amplify the production of heat-shock proteins and is administered orally. These proteins are able to save misfolded proteins, improve lysosomal function, and get rid of protein aggregates.
Arimoclomol has the ability to cross the blood brain barrier, making it a possible treatment for a number of conditions. It is currently being studied as a therapy for Gaucher disease, Niemann-Pick disease type C, ALS, and sporadic inclusion body myositis.
About the Study
The second phase of this study was meant to identify the proper dosage for Gaucher disease patients. The primary endpoint was to reduce serum chitotriosidase activity. While there was a relative reduction, it was not statistically significant. On the other hand, secondary endpoints were met. Spleen and liver size were reduced, the former by -5% to -21%, and the latter by -15% to -20%.
CytRx plans to continue this study, where they will monitor safety and further evaluate arimoclomol. These results were positive and encouraging; researchers hope this therapy will one day be able to help those with Gaucher disease.
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