Mark Forman, MD, PhD, on Genetic Testing and Further Research in Frontotemporal Dementia


The chief medical officer of Passage Bio discussed research needs in FTD.

"Compared to 5 years ago, there are now a number of trials in frontotemporal dementia that are available and many of those trials are focused on genetic forms of the disease whereas in the past there was often a lot of reluctance to do genetic testing. The fact that there now, at least, experimental treatment options available highlights the need to increase the throughput of genetic testing toallow the whole industry to really advance this.”

The phase 1/2 upliFT-D study (NCT04747431) has dosed its first patient with frontotemporal dementia with granulin mutations (FTD-GRN) with the gene therapy PBFT02 (Passage Bio). The study will last for 2 years plus a 3-year safety extension and is evaluating PBFT02 delivered via intracisterna magna (ICM) injection. The trial is currently enrolling patients with early symptomatic FTD-GRN between the ages of 35 to 75 years. There are 2 planned cohorts of 2 dose levels of PBFT02, with an optional third dose cohort.

PBFT02, via ICM administration, uses the AAV1 vector to deliver the GRN gene to patients with FTD-GRN. The therapy is designed to correct progranulin production, a deficiency of which is thought to contribute to lysosomal dysfunction. The therapy has shown preclinical efficacy in studies conducted by Passage Bio’s collaborator, University of Pennsylvania’s Gene Therapy Program.

CGTLive spoke with Mark Forman, MD, PhD, chief medical oficer, Passage Bio, to learn more about the state of research in FTD-GRN. He discussed genetic testing the company conducts for patients with FTD and the importance of counseling along with testing. He also touched on further research needed in the space.

More information about the upliFT-D global trial and eligibility is available at

Passage Bio doses first patient in global clinical trial of PBFT02 gene therapy for frontotemporal dementia with granulin mutations. News release. Passage Bio. August 11, 2022.
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