His last, best and only chance: Experimental drug for Duchenne muscular dystrophy

Doctors discovered that Jacob Gunvalson had a rare and devastating genetic disorder – Duchenne muscular dystrophy - when he was 7 or 8, about eight years ago. Many of the young men who have the disease, which nearly always affects males, do not live past their 20s. A biotechnology company is now testing an experimental drug, PTC124, which would give Jacob "his last, best and only chance to slow, stop or even reverse the effects of his condition," according to his attorney, Michael Hatch.

But the company refuses to give Jacob the drug, as he does not meet the narrow guidelines for the research protocol. The reason: scientists at the company worry that it may not be effective for a patient at Jacob's stage of the disease: Jacob can no longer walk. If the drug is known not to be effective in him, the company executives worry that that news may block the company's chances of proving it is effective and bringing it to market.

Jacob's mother Cheri, who has a masters degree in nursing, seems to have done all the right things. She has been active in a parent's advocacy group, Parent Project Muscular Dystrophy, which has helped PTC Therapeutics, the drug maker, to find financing for its research. Indeed, she was instrumental in getting federal legislation passed to provide more research money for the disease.

The company may even have told her that it would give Jacob the drug. Drug companies sometimes allow patients access to experimental drugs through a "compassionate use" policy. In this way, patients enroll in a single-patient study, or participate in a clinical trial, even if they do not meet the eligibility criteria and their results are not included in the final study.

In the absence of that, both Jacob and his mother are bitterly disappointed, after thinking "so many times," he said, that he would receive the drug. He is increasingly too tired to do some of his favorite activities like cooking and painting.

Advice to family members of gravely ill patients: Explore compassionate use if an appropriate drug is in clinical trials. If the answer is no, take your story to the news media.

Read an experimental drug story.

Thanks to Reed Abelson for the source article in the July 17 issue of the New York Times.