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.

My left arm shot out to catch them: Clinical trial of robotic Myomo device

When she was a college sophomore 21 years ago, she fell off the back of a friend’s dirt bike and hit her head on concrete, suffering a stroke. She learned to speak and walk again, and went back to school, and then to work. But much of Mary O’Regan’s left side remained numb, and she could not use her left arm.

Last year she chose to participate in a clinical trial of a new robotic device called the Myomo e100, designed to help stroke patients regain motion in their arms. Worn as an arm brace, the device senses weak electrical activity in the wearer’s arm muscles and provides just enough assistance so they can complete simple exercises like lifting boxes or switching on lights. After practicing such tasks, patients may begin to relearn how to extend and flex the arm, rebuilding the brain’s neurological pathways in the process.

"At first it felt weird and foreign. You have all these little muscles that are suddenly awake for the first time in 20 years. But I went back and practiced [three times a week for six weeks]. It was extremely encouraging," Mary said.

One time, she was delivering mail at work and the envelopes started to slip. "And my left arm shot out to catch them. That hadn’t happened in years."

By enrolling in the clinical trial, Mary had acted to help herself and other stroke survivors.

Advice: Consider participating in a clinical trial of a new drug or therapy.

Read one of our hero stories, or read more from Amanda Schaffer’s source article In the Science [NY] Times on July 10.

He should not be allowed to harm anyone else: Drug study and schizophrenia

Susan Endersbe battled depression her whole life. When her illness worsened, she would check into a hospital. When she did so at age 40 in May 1994, doctors at the Minnesota hospital gave her an anti-depressant, and three weeks later she said she was ready to leave soon.

The next day she was referred to a doctor who enrolled her in a drug study he was paid to conduct, though her suicidal tendencies should have excluded her. He stopped giving her the anti-depressant, and then she had to wait two weeks before getting an experimental drug or placebo.

During those two weeks, the doctor recorded her adverse effects as "0," though nurses documented a steady decline. Susan expressed reservations about being part of a drug study, telling a hospital worker, "I guess I didn’t understand that I would be going off all my other medications."

She spoke repeatedly of killing herself. But on June 10 the doctor wrote that she was "medically improving," and cleared her to visit her apartment alone, though leaving the hospital violated the study’s rules and she had mentioned suicide the night before.

She walked home, and committed suicide the next day.

Her brother learned that the doctor has since been receiving money from drug companies, overseeing clinical trials. Stunned to hear this, he said, "He should not be allowed to harm anyone else."

Indeed, this doctor, and many others in Minnesota, had received money to conduct drug studies even after formal disciplinary efforts by the state board of medicine.

Advice: In considering your participation in a drug study, find out whether you can keep taking your other medicines.

Read another story on this topic, or read the source story in Sunday’s New York Times.