Entries in Clinical Trial (5)


Deadly Disease Strikes Brothers, but Only One Gets Healing Drug

Handout/Justin Ferland Photography(SAXTONS RIVER, Vt.) -- The Leclaire brothers were born with the same deadly disease -- Duchenne muscular dystrophy. Max, 10, is in a clinical trial for a new drug that has miraculously reversed some of his debilitating symptoms, but Austin, 13, has been turned away.

Austin watches from his wheelchair as his younger brother's strength continues to return. Max was able to climb a big sledding hill in his Saxtons River, Vt., backyard, but his older brother's muscles are so weak, he can barely feed himself.

The boys have the same gene mutation that the drug targets and will eventually kill them, but because Austin can no longer walk, he did not qualify for the trial.

"My brother says he's doing it for me, that he's trying really hard," Austin told ABC News. "That's why he wanted to do it."

For the last 52 weeks, Max has been enrolled in a clinical trial with the drug eteplirsen, manufactured by Sarepta Therapeutics. Once a week, he receives intravenous infusions in a double blind study.

But after only 16 weeks, his parents suddenly realized he was on the drug and not a placebo. Not only was the progression of the disease slowing down, "he has even gained skills," said his mother, Jenn Mcnary, 32.

There is no cure for Duchenne muscular dystrophy. Until now, doctors can only use steroids, which just temporarily delays the inevitable loss of muscle strength.

"My husband noticed first at the airport," said Mcnary. "He said, 'I think he's on the drug and a high dose.' Max opened one of the McDonald's milk jugs with the sealed top. He never had that sort of grip strength."

For the last year, Max has flown to Nationwide Children's Hospital in Columbus, Ohio, for his IV treatment, but now, he goes to the Dartmouth Medical Center in nearby New Hampshire.

After seeing the success of the drug, the first of its kind, researchers put all 12 of the study subjects on that treatment. According to Mcnary, the children on the highest dose of the drug have made a 68-meter gain in distance in six-minute walking tests.

But in the time that Max has improved, Austin has deteriorated and now can't even pick up a drinking glass, said his mother.

"He has lost his ability to unlock a door handle and leave the house and move from the bed to the wheelchair," said Mcnary. "And in the next six months, we expect more sleep apnea that will require a breathing machine."

Austin enjoys his computer, but he can no longer use his go-cart because he has lost the back strength to sit up. He is homeschooled by his mother because he gets too fatigued in a regular classroom.

So far, the Mcnarys' pleas to the drug company have fallen on deaf ears.

"I have been getting very vague answers," said Mcnary. "I keep getting the same answer. They tell me to be patient."

Dr. Edward M. Kaye, chief medical officer and senior vice president of Sarepta, wrote in an email to Mcnary that she shared with ABC News that he is "sympathetic" to their case.

"This remains a priority for us to get the drug not only to Austin but to other children who may benefit from the therapy," he said in the email. "This is a challenging request since it involves complex regulatory, political, manufacturing, and fiscal issues that need to be addressed before a compassionate access program can be developed."

A spokesman for Sarepta told ABC News that the "path forward" for eteplirsen will depend on its discussions with the FDA later this year. In a statement, the company said it "... understands the urgent need of boys with DMD and their families," but cannot publicly speak about patients in its clinical trials.

Duchenne muscular dystrophy affects one in 3,500 male births, about 20,000 children in the United States and 300,000 worldwide, according to Cure Duchenne, one of three organizations that have funded the clinical trial.

The muscular disease strikes between the ages of 3 and 5 as boys progressively lose their ability to walk. Eventually, they are wheelchair bound, their upper body strength fails, and, like Austin, they eventually cannot raise their arms to feed themselves. Later, their breathing is affected and they require tracheotomies and breathing assistance. Eventually, the heart and lungs fail.

The drug is not a cure, but shows promise, according to Cure Duchenne founder Debra Miller, who has a 15-year-old with the disease. It is the first to target specific mutations in the gene that makes dystrophin, the protein that helps strengthen muscle fibers.

"We want to do everything we can to get this drug for all the boys and we are working with Sarepta," she said. "My son is still walking, but I can definitely see the weakness and it's like a stab in the stomach. The worst part is that every year he can do less than the year before."

But with only 12 research subjects having access to the drug right now, "It's a good news, bad news story," she said.

"We lived our life thinking this was a hopeless disease, but we have a good feeling about this drug," said Miller. "We are very hopeful and very cautious."

Her son is not in the clinical trial because the drug does not target his specific genetic mutation. But, she said, this trial has given other families the "proof of principle" that this type of drug can work.

As for the Mcnarys' children, Austin was diagnosed at the age of 3, when Max was already 3 months old -- too late for genetic testing. When Mcnary wanted more children, she was found not to be a carrier. Rather, she had a spontaneous mutation in her eggs.

"This can happen in any family," said Mcnary, who has six children in all, the Leclaire boys, who are from a previous relationship, her husband's twins and two healthy children from their marriage together, aged 4 and 1.

In the last year, the family has been "torn emotionally," according to Mcnary.

"I am clearly happy for Max because he is doing so well and exceeding our expectations for this drug," said Mcnary. "But it's taking much longer than we ever thought for the drug company to at least grant access to his brother [Austin] who is sitting home watching his brother get treatment."

"For the longest time, I felt so scared, because in the beginning, we weren't allowed to say anything about the clinical trial," she said.

But now Mcnary and her husband, Craig, who runs a Roto-Rooter franchise, have been talking to whomever will listen. For the past six months, they have been emailing Sarepta's executives.

"I am like a broken record," said Mcnary. "I congratulate the drug company who are now public and doing well. Their stocks are going up. We are not just looking out for Austin. We have a lot of friends in the (muscular dystrophy) community. People are losing their upper body strength just waiting for this. This is urgent right now."

Copyright 2012 ABC News Radio


Lou Gehrig's Disease: Patients Take Research into Their Own Hands

Courtesy Eric Valor(SANTA CRUZ, Calif.) -- Though his body betrays him, Eric Valor's mind is still strong.  Diagnosed with Lou Gehrig's disease in 2004, the 43-year-old relies on machines to move, talk, eat and breathe.  But that hasn't stopped him from running his own drug trial.

With help, Valor has been injecting sodium chlorite, a chemical used by water treatment plants, into his paralyzed body through a feeding tube.  He's convinced it's the active ingredient in NP001, an experimental drug made by Neuraltus Pharmaceuticals Inc., and other patients are following his lead.

"My original plan was to keep it secret until I could report with confidence that it was safe and even marginally effective," said Valor, who started taking sodium chlorite in October 2011.  "But the secret got out, so I made a website to try to capture data as best I could."

From a special bed in his Santa Cruz home, Valor uses only his eyes to control a ceiling-mounted computer -- an invention from his days as a computer specialist.  He is able to track his disease progression and that of more than two dozen other patients taking sodium chlorite.

He hopes the makeshift drug will buy them all time until NP001 is approved by the U.S. Food and Drug Administration.

But experts say the DIY approach is dangerous.

"It's pretty frightening," said Dr. Jonathan Glass, neurologist and director of the Emory ALS Center in Atlanta.  "I think it's a cry of desperation for these folks, using something not made to strict standards with no evidence it works."

But people with Lou Gehrig's disease, also known as ALS, are eager to find out whether sodium chlorite works quickly and on their own terms.  Frustrated with the pace of clinical research, they've joined forces to tackle the best leads on short order, from off-label drugs to stem cell transplants, and now makeshift NP001.  It's a far cry from a properly designed clinical trial, which has a control group to weed out the infamous placebo effect.  Still, the DIY design puts patients back in control.

Research papers and patent filings suggest the vaguely-named NP001 could be sodium chlorite, but Neuraltus Pharmaceuticals Inc. has not publicly confirmed the drug's formula.  Calls to the company were not immediately returned.

The results of a phase 2 clinical trial of NP001 are expected to come out later this year.

Copyright 2012 ABC News Radio


Brain Cancer Vaccine Raises Hopes for Survival Time

Comstock/Thinkstock(MIAMI) -- Researchers have created a vaccine against the most common adult brain cancer, glioblastoma multiforme, and evidence suggests it may help to extend patients' lives.

Results from the new phase II clinical trial were presented Tuesday at the American Association of Neurological Surgeons meeting in Miami.  The researchers, led by University of California -- San Francisco neurosurgeon Andrew Parsa, MD, PhD, found that the new vaccine has been successful at extending the lives of patients with recurrent brain cancer after surgery by several months.  Six-month survival after treatment improved from 68 percent to 93 percent.

"These results are provocative.  They suggest that doctors may be able to extend survival even longer by combining the vaccine with other drugs that enhance this immune response," Parsa said in a UCSF news release.

With 17,000 new patients diagnosed with glioblastoma each year, and only 2 percent surviving longer than five years, Parsa says the cancer always returns -- it's just a matter of when.

In general, cancer vaccines represent a new technology, with the only one clinically approved being used in prostate cancer.  While not touted as a cure, these positive results have already put plans into motion to combine the new therapy with other chemotherapy agents, in phase III clinical trials planned to start later this year.

Copyright 2012 ABC News Radio


Clinical Trial Participation Dampened by Motives, Fears

Thomas Northcut/Thinkstock(DURHAM, N.C.) -- Across cancers and a range of other life-threatening diseases, researchers struggle to recruit enough patients for trials to generate meaningful results.

Clinical trials are a crucial step in the search for disease treatments, tests and causes.  But fears, misconceptions and a lack of awareness -- among patients and doctors -- are major barriers that researchers across all fields are working hard to overcome.

"In just about every major disease, less than 10 percent of patients are enrolling in trials," said Dr. Richard Bedlack, director of Duke University's Amyotrophic Lateral Sclerosis Clinic in Durham, North Carolina.

Bedlack said only five percent of people with ALS (or Lou Gehrig's disease) -- a fatal neurological disease with no cure and only one treatment that extends the average three-to-five-year survival only slightly -- enroll in clinical trials.

Bedlack has been studying what motivates people to participate in trials and what dissuades them from signing up. Patients worry that participating in trials will spur out-of-pocket expenses, impose heavy time burdens, and possibly expose them to dangerous or unethical procedures, according to a survey he presented in December at the 21st annual International Symposium on ALS-Motor Neuron Disease in Orlando.

Websites touting bogus treatments and trials abroad also hinder research efforts in the United States.

Lack of awareness and worries about time burdens and paperwork dissuade doctors from recommending trials, too, Bedlack said.  Many doctors go with the standard treatments, and don't even mention trials unless asked.

Copyright 2011 ABC News Radio


Medication Shrinks Brain Tumors; Could Keep Thousands Out of OR

Photo Courtesy- Getty Images(CINCINNATI) -- A new experimental drug proven to shrink the size of brain tumors could save patients a trip to the operating room, according to a study published in the New England Journal of Medicine

Everolimus, an immune-suppressing drug, was tested at a clinical trial at Cincinnati Children's Hospital Medical Center.  The study of 28 patients found that tumors shrank by at least 30 percent in 21 of the patients and by at least 50 percent in nine patients.

The most marked and fastest shrinkage occurred in the first three months of treatment, but the effects were sustained.  Dr. David Neal Franz, senior author of the study and professor of pediatrics and neurology at the University of Cincinnati College of Medicine, said 75 percent of patients saw their tumors reduced by at least 30 percent in volume, and all participants had some response to the drug.

Such striking results from the study, funded by the drug manufacturer Novartis, led the FDA Saturday to grant fast-track approval to everolimus, which will be marketed as Afinitor, as an alternative to surgery for patients with tuberous sclerosis, a genetic disease that causes tumors to grow.  It's the first-ever approved treatment for the disorder.

Copyright 2010 ABC News Radio

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