FREQUENTLY ASKED QUESTIONS

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 brain and the symptoms of FTD.

ASPIRE-FTD is a Phase 1/2 open-label, multi-center study designed to evaluate the safety and preliminary efficacy of AVB-101 in patients with 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 AVB-101, an investigational one-time therapy designed to deliver a functional copy of the progranulin (GRN) gene directly to the brain, thereby potentially restoring progranulin levels and stopping disease progression in patients with FTD-GRN. AVB-101 is administered using a neurosurgical procedure directly to the thalamus at expert neurosurgical centers throughout Europe and the United States.

Our investigational gene therapy, AVB-101, is administered using a neurosurgical procedure directly to the thalamus. The thalamus is a key hub for connectivity in the brain with widespread projections across the brain including the cortex – a key area affected in FTD-GRN. Gene therapy aims to deliver functional gene copies to deficient cells.

With central nervous system diseases like FTD, 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. The neurosurgery procedure to deliver AVB-101 bypasses the blood-brain barrier, thereby limiting it to only the brain itself, where it is needed the most. At the same time, this potentially reduces the amount of dose required and systemic exposure in other parts of the body.

A strong family history is found in about 30-50% of FTD cases,⁵⁻⁷ 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.