Dr. Matthew Ginsberg didn’t initially think that medicine was for him — he didn’t like blood. The New York native studied food science at Cornell University. But, while at college, Ginsberg met pre-med students and worked as a respite staffer caring for a child with autism, which redirected his career pathway. “I felt like it was more important, meaningful and impactful,” Ginsberg says of medicine. He studied at the Cleveland Clinic Lerner College of Medicine at Case Western Reserve University, choosing pediatric neurology as his residency after medical school. “What brought me to neurology in the beginning, in the first place, was all these puzzles and really significant challenges, which I enjoy.”
In 2019, Ginsberg joined Akron Children’s. The pediatric neurologist is co-director of the Neurofibromatosis Clinic and of the Pediatric Neuromuscular Clinic. He is the James F. and Marguerite A. Pearson Endowed Chair in Neurodevelopmental Sciences for Rare Diseases. The creation of the multi-disciplinary Leukodystrophy and Rare Neurologic Disease Clinic was facilitated by the Pearsons. “That was really a product of a family here, whose granddaughter has Alexander disease, which is a rare brain condition that causes sort of progressive deterioration over time,” he says. “In addition to being very instrumental in helping to fund and support the first disease-modifying therapy, they also made a charitable donation to the hospital to establish this chair and the clinic.”
An Akron Children’s patient, the Pearsons’ granddaughter participated in a trial at the Children’s Hospital of Philadelphia for zilganersen, an Ionis Pharmaceuticals medicine that is now before the FDA for approval. The hope is that it will be the first approved therapy for Alexander disease.
Through the rare disease clinic, Ginsberg helped perform several tests on Beth Synk’s daughter, Imogen “Immy” Synk, to confirm a diagnosis of Angelman syndrome, which is a rare neurogenetic condition that leads to neurodevelopmental disabilities. Synk worked with Ginsberg to help make Akron Children’s a site for phase 3 of Ultragenyx’s GTX-102 investigational antisense oligonucleotide therapy clinical trial. “The medication attempts to treat the root cause of the condition by increasing production of the gene UBE3A, which is missing in the brains of persons with Angelman syndrome,” says Ginsberg.
In January, Immy enrolled in the yearlong trial at Akron Children’s. It involves her going under sedation, so she is completely still during the procedure, which started as monthly and eventually weans to once every three months. The procedure involves a lumbar puncture, a withdrawal of some of the patient’s cerebral spinal fluid and then an injection of the medication.
The medicine has been shown to be promising for Angelman patients with the most common mutation. More research is needed on its effectiveness in patients with rare mutation types like Immy’s, so this phase explores that.
In February, the Synks hosted a fundraiser and raised over $34,000 for the Foundation for Angelman Syndrome Therapeutics. Synk is thankful for Ginsberg. “The fact that he took the initiative and brought the trial here, it’s been tremendous for our family, but I know it will be a big deal for many families in the area,” she says.
It’s families like the Synks who help inspire Ginsberg to keep pushing for rare disease treatments. “Families are the driving force behind a lot of care in rare disease because they raise the funds, they get groups together, they stimulate research,” he says, “and between that and some beneficial changes in the regulatory environment, there’s been a tremendous amount of progress.”
This article was corrected 9/1/26.
Erin Gulling
Erin Gulling
