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Visionary research

C. Gail Summers, M.D., is leading the first-ever drug trial aimed at improving vision for children who have albinism. (Photo: Jim Bovin)

Pediatric ophthalmologist leads first-ever albinism drug trial

There are top-notch researchers, and there are first-rate clinicians. But few doctors have both the scientific chops and the extraordinary bedside manner of pediatric ophthalmologist C. Gail Summers, M.D., says donor Michael Cohen.

Cohen’s in a position to know; he’s a physician himself. The Texas pathologist and his wife, Sandra Cohen, have made two $10,000 gifts to advance Summers’s work. Inspired by the superlative care she’s given their 15-year-old son, Matthew, the gifts are helping to support her current clinical trial, a study exploring a possible treatment for vision problems associated with albinism.

Like others with albinism, Matthew experiences vision difficulties stemming from underdevelopment in the central retina. While the degree of visual impairment in albinism varies (Matthew has oculocutaneous albinism type 2; individuals with this type don’t typically have white hair or eyelashes), it’s the aspect of albinism that poses the biggest challenge. Matthew — a typical teenager who’s into skiing, rock-climbing, and drawing — compensates for his vision difficulties in school by sitting near the front and using large-print materials.

His mother recalls the first time the family visited the Twin Cities for a consultation with Summers. Her clinic waiting room was the first place where Matthew was among kids with albinism, which made the whole family comfortable. Within minutes of meeting Summers, “we knew she was the right choice”— geography notwithstanding, says Sandra Cohen.

Matthew says he could tell immediately that Summers loves her job. “She spends time with each patient … and she’s always included me in the conversation,” he explains. Summers’s genuine warmth and empathy — traits the Florida native ascribes to her late father, a welder — just earned her the Leonard Tow Humanism in Medicine Award from the Gold Foundation.

Summers has studied albinism since arriving at the University in 1985. Along with her mentor, geneticist Richard King, M.D., Ph.D., she cofounded the University’s International Center for Albinism, which she now directs. Past president of the American Association for Pediatric Ophthalmology and Strabismus, she’s published numerous articles on albinism. Summers estimates that she’s seen some 500 patients with albinism over the decades, many Minnesotans as well as others from far-flung places like China, South Africa, and Greece.

The first-ever drug trial for albinism, her study aims to determine whether patients’ vision can be improved by using the substance L-Dopa (levodopa) to turn on a receptor in the retina. The work is supported by the Minnesota Lions Vision Foundation, the Heilmaier Foundation, and by generous individuals and families like the Cohens. Many donors, Summers says, are patients’ grandparents. “A lot of young families don’t have the funds to give, but the grandparents do.”

The precursor molecule for the neurotransmitters dopamine and adrenaline, L-Dopa is currently used to treat Parkinson’s disease. Two-thirds of the study subjects are receiving L-Dopa in liquid form, with the rest receiving a placebo; neither Summers nor the participants know who’s receiving which liquid.

Summers plans to enroll 45 participants in the 20-week, randomized, double-blind study; she has 34 so far, and 29 have already finished. Many of the participants are her own patients, with a handful traveling monthly from other Midwestern states. By this time next year, she hopes to have a better idea of the treatment’s potential. “I have some who are saying, ‘My vision’s better,’ but there’s no way to know yet,” she says.

Summers is cautiously excited about the possibility. “It might make a difference,” she says. But whatever the study’s outcome, she’s already doing that — making a difference — for young patients around the globe.

By Susan Maas

To learn more or to support albinism research at the University of Minnesota, contact Chuck Semrow at 612-624-6313 or c.semrow@mmf.umn.edu, or visit www.mmf.umn.edu/giveto/albinism1.

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