In an interview with the Canadian Broadcasting Corporation, Dr. Simon Ducharme of McGill University in Montreal discussed his recent administration of an experimental gene therapy to mitigate the progression of FTD cases caused by a variant in the gene GRN.

Forty percent of people diagnosed with FTD have one or more blood relatives who have also been diagnosed with FTD or a related condition (such as ALS), a mental health condition like depression or anxiety, progressive challenges with language or movement, or another dementia. Such cases are referred to as familial FTD. Of that 40 percent, half may be attributed to a gene mutation. People with a mutation in the GRN gene lack the ability to produce progranulin, a key protein that helps maintain the health of nerve cells in the brain. This deficit may result in FTD.

The current stage of Dr. Ducharme’s study involves introducing a non-mutated GRN gene, using a therapy developed by the genetic-therapy company Passage Bio, into trial participants. The non-mutated GRN gene is delivered via a single injection into the cerebrospinal fluid at the base of the brain to stimulate progranulin production.

Four participants, two in the U.S., one in Brazil, and the most recent one in Canada, have received the injection. All participants’ progranulin levels are tracked through samples taken via lumbar punctures. “The early indications from the [first three people who] have received it,” said Dr. Ducharme, “is that it seems to be working.”

Dr. Ducharme does not think the treatment will reverse participants’ existing symptoms because the symptoms are caused by damage to nerve cells. He does hope, though, that the “treatment could at least slow down the progression of their disease or even stop it.” And, if the gene therapy works, Dr. Ducharme’s long-term goal is to give the treatment to carriers of the mutation to delay or even prevent the onset of symptoms.

Participants and their families agree. It “takes a fair amount of courage [to participate in the research study] because this is a very experimental procedure,” Dr. Ducharme said. “The main reason people with these diseases are willing to participate in research like this is that they hope we can … completely prevent it for their children’s generation.”

In 2021, Dr. Ducharme received a grant through the Treat FTD Fund, a partnership between AFTD and the Alzheimer’s Drug Discovery Foundation. Earlier this year, he discussed the experimental FTD-GRN therapy with Le Devoir, a French-language newspaper based in Quebec.

FTD is a complex disease with emotional and practical challenges that can be as isolating as they are overwhelming — finding a support group can provide you with a safe space to share your thoughts with others who understand and trade resources for the journey ahead. AFTD’s HelpLine can answer any questions you have about FTD and support you; contact the HelpLine at 1-866-507-7222 or info@theaftd.org.