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Pediatrics

Caring for the rare cases

Munich, 07/26/2013

“I want to be able to give my patients answers,” says Christoph Klein, LMU pediatrician and clinical researcher. He studies rare diseases, seeking to determine their causes and find experimental therapies. This takes time, but many of his patients have little to spare.

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Photo: Verena Müller

It is a strangely uplifting moment. Äyä is lying in an isolation ward. The little girl has been ill since birth, has undergone many operations, has lost much of her intestinal tract, and cannot digest most normal foods. But now, as she gazes up at Christoph Klein, she has a blissful look in her eyes. Klein, pediatrician and Director of the Dr. von Hauner Children’s Hospital, has just explained to the 9-year-old that her illness is a very exceptional one. Indeed she is the first person in the world known to have it. “We have discovered the cause of this very rare disease you have,” he says. “A single one of the 3.2 billion genetic letters in your cells is out of order, and we now know which one it is. We have found the needle in the haystack.”

Äyä leaves off eating her soup, and her eyes light up for a moment. “And no one else has it?” she asks. “Then I’m famous.” In this instant the child feels very special. “There is one other girl from Beirut, but we owe the discovery of this disease to you,” Klein says.

Äyä’s condition still doesn’t have a name. The findings made by Klein and his team won’t be published until next year. But, at her bedside, Äyä’s mother asks: “What happens next? Can Äyä now be helped?” Unfortunately, here, Klein has to dampen hopes of rapid improvement. “That will take time,” he replies.

“Orphan diseases”
This is another of those research breakthroughs that spark great expectations, but provide little immediate benefit for patients. It often takes years or even decades to translate research findings into effective treatments. And for sick children, these may come too late, as Christoph Klein is all too aware. “Nevertheless, these children and their fate are my motivation; they are the point of departure for my work,” he says. Klein sees himself as a clinician and as a scientist. As a pediatrician and oncologist, Klein supervises the treatment of all his patients at the hospital. As a researcher he focuses on the rarest conditions. These are often called “orphan diseases”, as no pharmaceutical firm wants to spend money studying them because the small numbers of patients mean that the economic returns would be paltry.

Klein has won many awards for his work, including the Leibniz Prize, the most important German accolade for research, in 2010, and a highly endowed Advanced Investigator Grant from the European Research Council (ERC) in the following year. But in his chosen field, “light and shade lie very close together,” as he puts it. A new treatment, such as a genetic therapy for the rare Wiskott-Aldrich syndrome (WAS), is a bright patch, but then there are the shadowed areas, such as the story of Sulin. Her case put him on the right track as a researcher, but the right treatment came too late to save her.

A minute misprint
Hardly anybody has ever heard of Pompe’s disease, the Chiari malformation or the Wiskott-Aldrich syndrome just mentioned. These terms refer to uncommon diseases that are named after the doctors who first described their characteristic symptoms. About four-fifths of all such diseases are due to single gene defects. As in Äyä’s case, a single error in the genetic code can result in a devastating, often fatal, disease. And Äyä is only one of approximately 100,000 individuals in Germany who suffer from some very rare, often poorly defined, inborn immune defect. As that figure reveals, in absolute terms, such disorders are not so rare at all. Germany has cases of between 5000 and 7000 rare diseases, and the total number of patients affected is on the order of 4 million. “In Europe a disease is referred to as rare, if it affects fewer than 5 out of every 10,000 people,” Klein explains.

Scientists like Christoph Klein try to correct such deleterious genetic errors by replacing the defective gene with an intact copy. Seven years ago, in one of the first attempts to apply gene replacement therapy undertaken anywhere, he and his colleagues began to treat WAS patients using this approach.  Hubert Filser / Translation: Paul Hardy

The complete article appeared in the latest issue of insightLMU, LMU’s international newsletter.

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