IntraBio has recently launched an extension study of their Phase II trial of IB1001, a treatment for Niemann-Pick disease Type C. This decision was made shortly after analyzing the positive results of the Phase II trial, as researchers need to better understand the disease-modifying and neuroprotective properties of the therapy.

About Niemann-Pick Disease

Niemann-Pick disease is a group of rare and severe lipid storage disorders. It occurs when the body is unable to transfer sphingomyelin, a type of lipid, into the cells, causing them to accumulate in the lysosomes. This disease is divided into three types: A, B, and C. Between these types, severity, onset, and symptoms vary. Types A and B of this disease occur when there are mutations in the SMPD1 gene, which affects the activity of sphingomyelin. Type C is caused by mutations in the NPC1 or NPC2 genes, which are responsible for a protein that transports sphingomyelin. These genes are all inherited in an autosomal recessive pattern. Symptoms of Niemann-Pick disease vary depending on the type and location of the accumulation of sphingomyelin.

• The liver and spleen are common places in which sphingomyelin accumulates, and symptoms would be a loss of appetite, an enlarged abdomen, low levels of platelets in the blood, and pain.
• If the central nervous system is affected, symptoms may be slurred speech, difficulty swallowing, impaired eye movements, and the loss of intellectual abilities.
• Bones are not as commonly affected, but when they are, people experience sleep related disorders and enlarged bone marrow cavities.
• Type C, which is the form treated by arimoclomol, is characterized by neurological abnormalities, like loss of coordination and difficulty speaking. Difficulty in swallowing is also common. Intellectual disabilities worsen over time. Cataplexy and seizures may occur as the disease progresses as well.

Treatment for this disease is dependent on the type, but they are all focused on managing symptoms. Anti-seizure, sleep-inducing, and anti-depression medications may all be prescribed.

About the Parent Phase II Study

Researchers at IntraBio decided to launch the extension study based off of the results of their Phase II study, which was able to demonstrate a statistically significant change in the Clinical Impression of Change in Severity. Participants in the study experienced improvements in quality of life, fine motor skills, gait, overall function, and cognition. Secondary endpoints were also met.

Because of these positive results, researchers became interested in the neuroprotective and disease-modifying aspects of IB1001. It is impossible to discern these things from a six-month study, so the next move is a twelve month long extension study.

About the Extension Study

This study will include 33 patients from the parent study, coming from nine sites across the United States, United Kingdom, and European Union. They will be followed and evaluated for twelve months, followed by a six week washout period.

While the intention of the study is to better understand the neuroprotective and disease-modifying properties of this therapy, researchers are hopeful that patients will also experience symptom relief. As there are no approved therapies in the United States and only limited treatment elsewhere, this extension study is a big step forward.

Looking Forward

IB1001 is also being evaluated as a treatment for GM2 gangliosidosis, as well as ataxia-telangiectasia. Results from the trial for GM2 gangliosidosis are expected in the beginning of 2021. Based on the information that researchers are learning from these studies, they believe that this therapy may also be able to treat chronic traumatic encephalopathy and possibly Alzheimer’s disease.

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