BBSOAS Center of Excellence
The NR2F1 Foundation is making history with the launch of the first BBSOAS Center of Excellence at Cincinnati Children’s Hospital on April 21, 2023. The BBSOAS Center of Excellence, led by Dr. Veeral Shah and his team, is a major milestone for the NR2F1 Foundation and our community.
What is a Center of Excellence?
A Center of excellence is a specialized program associated with a healthcare organization that offers an extraordinarily high concentration of experience and resources focused on a specific medical area in order to provide the best outcome possible for patients.
According to Definitive Healthcare, a medical 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.
What is the purpose of a Center of Excellence?
COEs connect physicians and others to corroborate and share best practices and knowledge, promote diagnostic and therapeutic approaches, and enhance patient care. Patients with rare diseases value centers of excellence because of how complicated their condition is, which usually means they need care from many different medical 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. The potential for coordinated care among a group of specialists, faster access to these professionals and their teams, and connections between patients and their families and those who share their sickness are all provided by centers of excellence.
A COE has the ability to dramatically enhance the depth and breadth of healthcare services available for a rare disease community, because of the ability to improve outcomes by utilizing cutting-edge equipment, technology, and methods.
Rare diseases tend to be complex diseases that require a variety of specialists to provide appropriate care for a patient. BBSOAS (Bosch-Boonstra-Schaaf optic atrophy syndrome) is a rare genetic disorder caused by rare mutations on the Nr2f1 gene. It is characterized most commonly by vision impairment caused by optic atrophy, developmental delay, and intellectual disability. People with the disorder can suffer seizures, speech and language impairment, autism, vision impairment, and hypotonia.
There are many benefits to coordinated care and having specialists work together, especially in the case of rare diseases, where a complex of specialists is often needed to properly treat a patient. The coordination of care allows doctors to build a depth of understanding of a specific rare disease, its treatment, and manifestations. It also allows these specialists to more easily share information about patients, treat them more holistically, and benefit from each other’s understanding.
For patients, the benefits extend beyond the medical care itself. It is often difficult for patients to get access to the many specialists they need. Coordinating appointments and travelling long distances to see doctors can be a significant challenge and require long waits. One of the benefits of a center of excellence is having the necessary specialists available and usually being able to see the various doctors a patient needs to see in the same day at the same location or over consecutive days.
Because of the way these clinics generally schedule patients around specific clinic days, another benefit they provide is bringing patients together and fostering connections between patients and their families. This brings together people with the same disease, many from around the world, and may put children in touch with other children with the same diseases for the first time. It also allows parents of children with a rare disease to connect with other parents and share experiences, information, advice, and support.
BBSOAS COE’s impact on research
The BBSOAS Center of Excellence (COE) will be a multi-disciplinary clinic at Cincinnati Children’s Hospital Medical Center led by pediatric neuro-ophthalmologist, Dr. Veeral Shah, with 3 BBSOAS patients included at the start.
Patients will be studied longitudinally with a 1-, 3-, and 5-year follow-up, and additional assessments will be performed using validated measures for neurodevelopmental disorders, as well as patient-reported outcome measures through collaboration with the NR2F1 Foundation and the NR2F1 Patient Registry in Across Healthcare Matrix.
As an ultra-rare disorder, we are incredibly fortunate to have the perfect combination of expertise within one medical institution. Dr. Veeral Shah, who has been a trusted Scientific Advisor to the NR2F1 Foundation since its inception and sits on our Scientific Advisory Board, is able to provide insights on our patients as both a pediatric neuro-ophthalmologist and also an authority in Cerebral Visual Impairment (CVI).
In teaming with Dr. Shah’s colleagues at Cincinnati Children’s, this COE will propel our ability to drive research forward in understanding the impact of the NR2F1 gene and providing us with a systematic approach to collecting natural history data.
BBSOAS Center of Excellence Goals
Individuals with BBSOAS will be invited to Cincinnati Children’s Hospital at regular intervals for a comprehensive physical and visual assessment including neuro-ophthalmic evaluation of optic nerves, CVI severity testing, and MRI of the anterior and posterior visual pathways recently observed to be anatomically affected in patients with CVI.
Our goal is to identify potential treatments for our patients, but one of the gaps in identifying the success of treatments so far is the lack of an established outcome measure for CVI. Vision plays a huge role in learning and day to day living for our patients and their caregivers. This impacts not only BBSOAS but a much broader population of neurodevelopmental disorders. The COE will provide the ideal alliance of experts and patients to research and establish 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 earned his undergraduate degree at the University of Pittsburgh. He received his medical degree and Ph.D. from the University of Pittsburgh School of Medicine. He completed his ophthalmology residency at the University of Pittsburgh Medical Center (UPMC) Eye and Ear Institute. He completed two ophthalmology fellowships in Neuro-Ophthalmology at University of Miami/Bascom-Palmer Eye Institute in Florida, and a Pediatric-Ophthalmology at The Children’s Hospital of Philadelphia in Pennsylvania. He has practiced 5 years at Texas Children’s Hospital, Baylor College of Medicine, and MD Anderson prior to joining Cincinnati Children’s Hospital/ University of Cincinnati in 2020.
Dr. Shah is a pediatric and adult neuro-ophthalmologist with clinical interests that include demyelinating diseases, nystagmus, eye movement abnormalities, cranial nerve palsies, optic nerve hypoplasia, craniofacial diseases, intracranial tumors, optic neuropathy, complex strabismus, and ocular genetics/electrophysiology. His clinical and basic research interests include molecular genetics of optic nerve protection/development and neuro-oncology.