In the photo: Prof. Geneviève Bernard speaking at the D2R Research Symposium 2026

A rare and deadly brain disease affecting children in the Cree communities of Northern Quebec is the focus of new research. D2R is proud to announce the recent funding of a project led by Prof. Geneviève Bernard through its Indigenous Health Program, supporting this important work. The program supports Indigenous-led and community-engaged research that advances genomic medicine while prioritizing cultural safety, trust, and partnership. It also funds capacity building, community engagement, and research developed in alignment with Indigenous data sovereignty principles.

Cree Leukoencephalopathy (CLE), a severe form of Vanishing White Matter disease, causes progressive brain damage, leading to severe disability and early death. It is caused by a specific variant in the EIF2B5 gene prevalent within certain Indigenous populations.

There is currently no approved treatment for CLE. Researchers are currently investigating a new oral medication called fosigotifator (ABBV-CLS-7262), an investigational drug developed by Calico Life Sciences LLC that has not yet been submitted to or approved by the U.S. Food and Drug Administration (FDA). More information about clinical trials of fosigotifator is available at ClinicalTrials.gov (NCT05757141).

Because awareness of CLE is high in Cree populations and genetic testing of potential parents is available to identify carriers, some children with CLE may even be diagnosed before birth, presenting a rare opportunity to evaluate the safety and efficacy of treatment beginning early in infancy, before signs and symptoms of disease have developed. Unfortunately, however, typical approval-seeking clinical trials do not contemplate treatment of such young patients. To address this gap, researchers have designed highly personalized “N-of-1” fosigotifator trials to treat two (2) infants diagnosed before birth with the disease. These innovative studies aim to assess whether treatment of infants at the earliest possible timepoint is safe and whether it might slow or stop brain damage, improve quality of life, and/or extend survival.

If the research yields positive results, this work could help inform future treatment development and provide valuable data for children and families affected by this devastating condition.