Dr. Penelope Hogarth of the
The NBIA Disorders Association is continuing to collaborate with Dr. Penelope Hogarth on research to better understand BPAN and how it affects individuals over time. Our organization recently signed an agreement with Hogarth, a movement disorders neurologist at the Oregon Health & Science University, to carry on her work for another two years at a total cost of $103,292.
BPANready, as the study is called, collects data on how the disease evolves over time (natural history). The agreement runs from March 1, 2022, to February 28, 2024, at which time BPANready will have five years of data.
Clinical information, as well as blood and other biologic samples are collected from BPAN individuals and studied immediately in the OHSU laboratory. The samples are being used to identify potential biomarkers and create a BPAN biobank for future research by investigators worldwide. That information is de-identified to protect patient privacy.
The work includes gathering medical records on BPAN individuals, using questionnaires to collect natural history information and a custom rating scale developed to determine disease progression. Participants enter information from home every six months and have blood drawn once a year.
The study will attempt to answer critical questions about BPAN, such as why one person with the disorder has severe neurological problems while another may only be mildly affected. Hogarth also hopes to find out whether deterioration typically seen later in the disease is inevitable and whether it's possible to predict the age at which regression may appear.
Allison Gregory, a genetic
The goal is to get the BPAN community ready for future clinical trials. Researchers hope to identify BPAN disease markers – symptoms or measurements that happen reliably in a disease, changes that predictably appear with disease progression, and symptoms that improve with treatment. A disease marker could be an MRI finding, a protein level in the blood or a rating scale to measure symptoms or function. Natural history studies provide data that serve as the foundation for future drug trials.
The NBIA Disorders Association funded the first two years of the study with $45,000 and another of $50,507 in collaboration with the Orphan Disease Center at UPenn as part of the 2017 Million Dollar Bike Ride. The third year carried on without our funding, and this new allocation will enable the completion of five years of data, at which point data analysis can be performed to get statistically relevant data. A publication on the natural history study including the data set analysis is planned, and will provide important information for future BPAN clinical trials.
Hogarth’s colleague, Allison Gregory at OHSU, said, “There are currently 140 individuals enrolled in BPANready, which is a really impressive number. The high number may be because many young children with general symptoms like developmental delay or seizures started to be referred for whole exome genetic testing on a wider basis.” OHSU has been seeing about one new BPAN person per week for some time.
“This experience with very young kids has taught us how important the BPANready study is. Since we first found the gene in a group of adults, we really had no idea what it looked like in children or toddlers,” Gregory said. “Now, through the study, we are able to follow very young children over time to better understand their development and symptoms.
“We know it can be a grind for families to complete a study visit online every six months, “ she added, “but we believe it will pay off when potential interventions are ready to go to trial since the study is helping us develop biomarkers and identify the best outcome measures.”
To learn more about the study or enroll, visit https://nbiacure.org/our-research/in-the-clinic/bpanready.