On April 21, 2023, history is being made as the very first BBSOAS Center of Excellence is launched at Cincinnati Children’s Hospital by the NR2F1 Foundation. The BBSOAS Center of Excellence, led by Dr. Veeral Shah and his team, represents a significant accomplishment for the NR2F1 Foundation and its community.
The Cincinnati Children's Hospital will periodically invite individuals with BBSOAS for a thorough physical and visual evaluation, which will include testing for the severity of CVI, an MRI of the anterior and posterior visual pathways, and a neuro-ophthalmic assessment of the optic nerves.
What is a Center of Excellence?
Definitive Healthcare defines it as “a center of excellence is a hospital or healthcare facility where patients continually return to receive primary care or treatment for acute conditions, separate from the place of diagnosis.” Centers of Excellence bring together clinicians and others to exchange best practices and knowledge, promote diagnostic and therapeutic approaches, and enhance patient care.
According to Global Genes, Allies in Rare Diseases, “Centers of excellence are valued by rare disease patients because of the complexity of their conditions and the need many of these patients face to seek treatment from a variety of different specialists. Centers of excellence provide an opportunity for coordinated care among a group of specialists, allow for easier access to these specialists, and connect patients and their families to others with the same disease.”
How the COE will impact research
As a pediatric neuro-ophthalmologist, Dr. Veeral Shah will direct the multi-disciplinary BBSOAS Center of Excellence (COE) and will treat 3 BBSOAS patients in the beginning. Dr. Shah’s team will include Terry L. Schwartz, MD, a pediatric ophthalmologist, Karen L. Harpster, Ph.D., OTR/L, an occupational therapist III, and Melissa Rice, OD, FAAO, a pediatric optometrist.
Through collaboration with the NR2F1 Foundation and the NR2F1 Patient Registry in Across Healthcare Matrix, patients will be studied longitudinally with a 1-, 3-, and 5-year follow-up, and additional assessments will be made using validated measures for neurodevelopmental disorders as well as patient-reported outcome measures.
The NR2F1 Foundation feels tremendously fortunate to have the ideal combination of knowledge at one medical facility, given that the disease is ultra-rare. As a pediatric neuro-ophthalmologist and a recognized expert in Cerebral Vision Impairment (CVI), Dr. Veral Shah, a trusted Scientific Adviser to the Foundation since its founding and a member of their Scientific Advisory Board, is uniquely qualified to give insights to the patients.
Working together with Dr. Shah’s colleagues at the hospital, the COE will advance research by improving understanding of the NR2F1 gene's effects and giving a methodical way to gather natural history data.
BBSOAS Center of Excellence Goals
The Foundation's main objective for the COE is to find potential treatments for BBSOAS patients. However, the absence of a standard CVI outcome measure makes it difficult to assess the efficacy of treatments to date. For patients and their caregivers, vision is crucial for learning and living day to day.
This affects a much larger population of neurodevelopmental disorders than just BBSOAS. The COE will offer the appropriate coalition of professionals and patients to investigate and develop this outcome measure.
Dr. Veeral Shah, MD, PH.D.
Dr. Shah is a Pediatric Neuro Ophthalmologist in the Division of Pediatric Ophthalmology at Cincinnati Children’s Hospital Medical Center. He is also an Assistant Professor at the UC Department of Ophthalmology.
Dr. Shah is a pediatric and adult neuro-ophthalmologist whose clinical interests include complex strabismus, ocular genetics, and electrophysiology as well as demyelinating diseases, nystagmus, eye movement abnormalities, cranial nerve palsies, optic nerve hypoplasia, craniofacial diseases, intracranial tumors, and optic neuropathy.
Dr. Shah said, “We’re excited to start a BBSOAS (NR2F1) Center of Excellence at Cincinnati Children’s Medical Center! Our goal is to provide holistic and personalized medical care to BBSOAS children and youths afflicted with neuro-ophthalmology and vision development conditions through superior care coordination, translational cutting-edge resources, and pioneering scientific discovery.”
