Groundbreaking, life-saving breakthroughs in medicine are the hallmark of the Blood and Marrow Transplant program at University of Minnesota Amplatz Children’s Hospital. For those patients and families who find their way to the care of University medical professionals, the benefits of academic medicine are most immediate.
For 10-year-old Chase Davis and his family, these benefits offered them hope, results, and the opportunity for Chase to be something he had not yet imagined: a pioneer in medical research.
In August 2005, at age nine, Chase was diagnosed with adrenoleukodystrophy (ALD), a rare, genetically inherited, progressive neurological disorder. Of the several types of ALD, Chase's is the most devastating. It eventually destroys the nerves in the brain. This form of ALD usually appears between ages four and eight, is found only in boys, and progresses in a way that causes total disability in six months to two years, with death typically following soon after.
ALD was the subject of the 1992 movie, "Lorenzo's Oil," which refers to the mixture of olive and rapeseed oils which, when used in combination with a low fat diet, appears to slow the progression of ALD. There is no known complete cure for ALD, and unfortunately, Lorenzo's oil is not as effective as it first appeared to be.
Around the same time that Chase's diagnosis of ALD was confirmed at a hospital in St. Louis, Dr. Lawrence Charnas, Associate Professor of Pediatrics and Neurology at the University of Minnesota Children's Hospital, discussed with a colleague in New York the promise of the off-label use of Mucomyst in treating ALD. "It is a remarkably safe, easy drug to use and has worked well treating some similar inflammatory diseases," said Charnas. Mucomyst has long been approved by the FDA for treating cystic fibrosis and acetaminophen overdose.
Dr. Charnas was also progressing with his research into hematopoietic (blood) stem cell transplant for treatment of ALD. In effect, the transplant replaces the immune cells causing the reaction with cells of the donor to create a new immune system that will not attack the brain. After years of this type of transplant treatment, outcomes have proven favorable only in cases where the ALD had not advanced beyond a certain threshold of damage to the brain. Unfortunately, Chase's ALD had advanced far beyond this threshold -- a standard stem cell transplant would simply not be enough to help Chase.
"The potential for the combination of a stem cell transplant and Mucomyst drug therapy to stop the progression of ALD had never been tested," says Dr. Charnas. For Chase, this treatment might be his only hope.
With a pioneering spirit, and too few other options, the Davis' decided to go forward with a therapy combination that had never been tried before.
Chase received the transplant and began the regimen of Mucomyst. Today, MRI scans show no progression of the disease. Though the damage already caused by ALD cannot be reversed, Chase continues to get stronger and his condition is improving better than anyone could have hoped. With assistance, he can stand and take a few steps, roll over onto his stomach, do arm and leg exercises, and communicate and do schoolwork using a letterboard and Dynavox speech device.
"We're very thankful to have found the team here in Minnesota," says Beverly Davis. "We had been told there was no hope, and with this treatment at the University of Minnesota Children's Hospital, we're not only hopeful, but we are seeing improvements we never thought we'd see. Chase can do so many things that he couldn't do a few months ago - sit on his own, walk through the house with help, communicate the things any 10 year-old would using those devices, and even beginning to eat and drink again."
Dr. Charnas and a dozen other team members- led by Dr. Paul Orchard, pediatric oncologist with the Blood and Marrow Transplant program at University of Minnesota Children's Hospital - have since treated two more boys with this combination blood stem cell transplant and drug therapy.