Columbia Doctor Uses Customized Drug to Treat Patient with Ultrarare Disease

December 21, 2022

Precision medicine harnesses a patient’s unique genetic information to guide their care: finding the right drug for the right patient at the right time.

For one Columbia patient, precision medicine couldn’t be more precise.

As reported in the New York Times, Susannah Rosen, 8, a patient of Wendy Chung, MD, PhD, the Kennedy Family Professor of Pediatrics, is the first person to receive a drug designed to treat a rare genetic disorder called KAND. Susannah is one of only 400 people around the world to have been diagnosed with KAND (KIF1A-associated neurological disorder), a disease caused by mutations in the KIF1A gene.

The drug is not just the first for KAND, it is tailor-made to address the unique genetic glitch that caused Susannah’s disease, which over time has led to physical disabilities, seizures, and loss of vision.

pediatrician in a white coat helping a child in the doctor's office
Wendy Chung with Susannah Rosen. Photo courtesy of Wendy Chung.

“In doing so, the young girl and her parents have found themselves on the edge of personalized medicine,” the New York Times reported.

Susannah is not the first person at Columbia to receive a drug tailor-made for one or a handful of patients.

In 2019, Jaci Hermstad, a young woman with a rare genetic form of ALS, received a drug designed to target the mutation causing her disease. Her physician, Neil Shneider, MD, PhD, the Claire Tow Associate Professor of Motor Neuron Disorders in the Department of Neurology, received special permission from the Food and Drug Administration to give the drug to Jaci through the FDA's compassionate use program. Jaci died in 2020, but the drug is now being tested in a global phase 3 clinical trial in patients with the same mutation.

Shneider also co-founded Silence ALS, an initiative established in 2022 with the n-Lorem Foundation to develop tailored drugs for other patients with rare genetic forms of ALS.

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Wendy Chung, MD, PhD, is the Kennedy Family Professor of Pediatrics and chief of clinical genetics in the Department of Pediatrics at Columbia University Vagelos College of Physicians and Surgeons.

Neil Shneider, MD, PhD, is director of the Eleanor and Lou Gehrig ALS Center at Columbia University; the Claire Tow Associate Professor of Motor Neuron Disorders in the Department of Neurology at Columbia University Vagelos College of Physicians and Surgeons; and a neurologist at NewYork-Presbyterian/Columbia University Irving Medical Center.

Columbia University Irving Medical Center was named the first “Partner in Excellence” of the n-Lorem Foundation, a non-profit organization that aims to discover and provide experimental antisense oligonucleotide (ASO) medicines to patients with ultrarare diseases. Wendy Chung, MD, PhD, and Neil Shneider, MD, PhD, are co-principal investigators of the collaboration at Columbia.