The D2R Indigenous Health Program supports Indigenous-led and community-engaged research that advances genomic medicine in ways that are culturally safe, ethically grounded, and responsive to priorities identified by Indigenous communities.

The program funds a broad range of activities, including community engagement and priority setting, capacity building and training, development of culturally appropriate research frameworks, and disease-focused genomic and therapeutic research. All initiatives are grounded in a relationship-centered approach that prioritizes meaningful engagement, trust-building, co-development of research and data practices, and respect for Indigenous data sovereignty.

Projects must align with OCAP庐 principles (Ownership, Control, Access, and Possession) and DR's Indigenous Research Framework, and demonstrate strong ethical, scientific, and governance standards.

Funding is flexible to accommodate the diversity of initiatives supported under this program.

Investigating Fosigotifator for Cree Leukoencephalopathy: Translational N-of-1 Trials

Cree Leukoencephalopathy (CLE) is a rare and fatal neurodegenerative disorder predominantly affecting the native Cree population living in Northern Quebec. It is a severe form of Vanishing White Matter (VWM) disease characterized by gradual brain degeneration that leads to severe neurological difficulty and decline, and ultimately premature death. CLE is caused by a single genetic mutation in the EIF2B5 gene prevalent within certain Indigenous populations. Despite its significant impact on the affected population, there are currently no effective treatments for CLE. Researchers are currently exploring a new oral medication called fosigotifator (ABBV-CLS-7262), an investigational drug currently in development by Calico Life Sciences LLC. Fosigotifator has not yet been submitted to or approved by the U.S. Food and Drug Administration (FDA) or any other governmental agency. More information about clinical trials of fosigotifator is available at (NCT05757141). This drug is being tested in a multi-center clinical trial to confirm its safety and potential effects in people with VWM, but is not yet publicly available. 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 two (2) highly personalized 鈥淣-of-1鈥� fosigotifator trials to treat two (2) infants diagnosed prenatally with CLE. These innovative studies will assess whether treatment of infants at the earliest possible timepoint is safe and gather preliminary data on whether it may affect disease progression, including potential effects on brain health, quality of life, and 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 condition.

Principal Investigator: Genevi猫ve Bernard聽(91黑料网)
Co-Investigator: N/A
笔补谤迟苍别谤(蝉):听,听
Project duration:聽3 years
Relevant D2R Axes:聽Clinical Research, Acceleration, and Implementation (Axes 4)