FREQUENTLY ASKED QUESTIONS

Frontotemporal dementia (FTD) is a brain disease that affects adults, with an average age of onset between 50 and 60. It is one of the most common forms of dementia below the age of 65. It is so called because it affects the frontal and temporal areas of the brain. Typical symptoms include changes in behaviour and impairment with language. There are currently no disease-modifying therapies for the treatment of FTD. Find out more about FTD here.

This is a mutation in the ‘GRN’ gene. Genes are instructions that tell the body’s cells what to do. Sometimes, genes contain errors called mutations.

Mutated gene            Gene with no mutation

The GRN gene tells the body to make progranulin, which is a protein that plays an important role in the healthy functioning of cells in the brain. When there is mutation in the GRN gene, the body may not make enough progranulin, which can lead to cell death in the brainand the symptoms of FTD.

ASPIRE-FTD is a clinical study to research the effects of AVB-101, an experimental gene therapy designed to restore levels of progranulin in the brain, potentially slowing or stopping the progression of FTD-GRN. ASPIRE-FTD is the first study of AVB-101 in humans. It aims to evaluate the safety of AVB-101 and measure its effects on progranulin levels and the symptoms of FTD.

You may be eligible to participate if you meet the following criteria*:

• 30-75 years old
• Diagnosed with FTD-GRN (this will be confirmed with a genetic test)
• Have a caregiver who is able to support you (including attending study visits) for the duration of the study (5 years and 3 months)

*Other criteria will also apply.

Clinical research studies help scientists and doctors investigate whether a new drug or treatment is safe and effective. Before a doctor can prescribe a new drug or treatment, it must go through several phases of clinical research and obtain a license from national authorities. Clinical research is only possible with the help of people who participate in research studies. All study participation is voluntary and if you decide to join a study, you are free to leave at any time.

The study treatment in this clinical research study is an experimental gene therapy called AVB-101, which contains a correct (non-mutated) version of the GRN gene. It is designed to restore levels of progranulin in the brain, potentially slowing or stopping the progression of FTD-GRN. AVB-101 will be delivered as a ‘one-time dose’ directly into the brain via a minimally invasive surgical procedure, performed by a study neurosurgeon at a specialist neurosurgical center. 

AVB-101 is designed to be delivered directly to a part of the brain called the thalamus, which has extensive connections to other parts of the brain, including the frontal and temporal lobes, which are critical in frontotemporal dementia.

The minimally invasive neurosurgery procedure to deliver AVB-101 aims to bypass the blood-brain barrier, thereby limiting the treatment to only the brain itself, where it is needed the most. At the same time, this is designed to reduce the amount of dose required and potential exposure in other parts of the body.

With central nervous system diseases like frontotemporal dementia, the blood-brain barrier can be a hurdle for gene therapy delivery. The blood-brain barrier is a layer of cells between the blood vessels and the brain that protects the brain from harmful outside substances while letting through nutrients that the brain cells need.

There is an urgent need for collaboration among researchers, clinicians, patients, advocates, and families to courageously explore new approaches to tackling FTD, including innovative and targeted delivery approaches.

A strong family history is found in about one-third of FTD cases, and much of the current research focuses on genetic FTD, especially FTD-GRN. People living with FTD are an essential part of the research process to help discover new treatments. Without these individuals and their families, clinical research cannot advance.

Participating in a clinical trial can be a big decision for people with FTD and their families. While study participants may not directly benefit from an investigational treatment in a clinical trial, participating in research may help some people feel like they are contributing to a larger body of research for future generations who might be affected by FTD.