According to the Canadian Organization for Rare Disorders, one in 12 Canadians have a rare disorder. And with more than 7,000 known rare conditions, researchers across the country are working to build better futures for these Canadians.

At the Bloorview Research Institute, scientists and research teams are leading the way in advancing precision health solutions for children and youth with rare conditions linked to neurodevelopmental differences and pediatric disability. Through this research, they are examining the interconnection among biology, psychology and socio-environmental factors to inform customized treatments, interventions and technology to support the individual health and wellbeing of children, youth and their families living with rare conditions.

Some of the ways in which the BRI is leading research in rare conditions include:

• understanding the underlying biology of neurodevelopmental differences and pediatric disabilities and the real-world health implications and health-system needs of individuals living with rare genetic conditions;
• leading the design and execution of clinical trials for specific rare genetic conditions, while working with industry partners and networks such as RareKids-CAN to ensure children with rare genetic conditions can contribute to essential research that will inform their clinical care; and
• building local expertise and capacity to match children to specific treatments and personalized clinical  trials based on their unique genetic make-up.
   

Research highlights:

Dr. Darcy Fehlings, a senior clinician scientist and developmental pediatrician, is identifying children with cerebral palsy (CP) who have rare genetic variants that contribute to their etiologic risk to develop CP. This knowledge will help to develop agile, precision treatments and interventions tailored to every child’s biology, needs and preferences.

Drs. Evdokia Anagnostou, Danielle Baribeau and Laura McAdam are leading the CALM* study, a national clinical trial examining anxiety treatment across neurodevelopmental conditions, including rare genetic conditions frequently presenting with impairing anxiety symptoms, such as Fragile X syndrome, Tuberous Sclerosis and  children and youth with 22q11 deletions. (* CALM stands for A Randomized Placebo-Controlled Trial of Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents with NeurodevelopMental Disorders.)

“Anxiety was prioritized  by youth and families as an area of desired research,” says Dr. Anagnostou, vice-president of research. “In response, this study will address whether commonly used medication for anxiety in the general  pediatric population  work  well and for whom in children with common and rare neurodevelopmental conditions.” This study is funded by Canadian Institutes of Health Research, the Azrieli foundation and supported by RareKids-CAN.

In another POND (Province of Ontario Neurodevelopmental Disorders Network) study funded by the Ontario Brain Institute, scientists have identified a group of children and youth with rare genetic variants. Currently, the scientists are  linking the children and youth’s data  with provincial health system data to understand  their unique mental health needs in order to  make health-system recommendations to  meet their needs.

Dr. Baribeau is also building capacity and experience in the design and execution of single-patient trials in rare genetic conditions in collaboration with RareKids CAN. For instance, the clinician scientist and her research team recently completed an innovative single patient trial of a prescription medication for a child with an ultra-rare genetic condition that was co-designed by the family. With initial positive results, this study has set the stage for further projects for children with very rare conditions, including precision therapies.

Dr. Laura McAdam, a clinician investigator and physician director of ambulatory care, has focused her research on enhancing care for children with neuromuscular conditions, advancing rehabilitation for children with rare conditions and understanding the broader psychosocial impact of living with a rare condition. Through her research, she seeks to bridge knowledge gaps, improve client care and address the multi-faceted challenges faced by individuals with rare conditions and their caregivers. She also collaborates with industry and academic partners worldwide to test medications for rare disorders such as Rett syndrome and Duchenne Muscular Dystrophy. Additionally, Dr. McAdam’s clinical focus is on rare genetic conditions specifically with children who have neuromuscular conditions or Rett syndrome, a rare genetic disorder that impacts motor skills and language.

“This day recognizes the important partnerships we have with children and youth living with rare conditions as we collaborate together in developing tailored interventions that will meet their individual needs and preferences,” says Dr. Anagnostou. “We also want to recognize the vital provincial and federal investments that help to support the strong ecosystem of network collaborations such as Rare-Kids CAN, POND and CP Net networks as well as with international partnerships with industry, universities, children, youth and families worldwide.”