A
First in Arizona: Woman with Rare Genetic
Disorder
to Undergo New Drug Therapy at UMC
Tuesday
May 22, 2006
From: Katie Riley, (520)
626-4848
Media
opportunity: Patient Lecita Moore will be available to speak to reporters as she
is prepped for the infusion from 8:30 to 9:30 a.m. Tuesday, May 23, at the UMC
Infusion Clinic. Her physician, Dr. Timothy Miller, will be available afterward.
Contact: Katie Riley at AHSC Office of Public Affairs at (520) 626-4828 if you
would like to arrange an interview.
A Tucson woman suffering from a rare and devastating
neuromuscular disorder will undergo four hours of intravenous drug therapy at
University Medical Center Tuesday,
becoming the first adult in the western United States outside of a clinical
trial to benefit from a new drug approved by the FDA just three weeks
ago.
Lecita Moore, 29, suffers from late-onset Pompe disease,
an enzyme-deficiency disorder affecting fewer than 10,000 infants, children and
adults worldwide. Also known as a “lysosomal storage disorder,” Pompe disease is
caused by a deficiency or malfunction of an enzyme that occurs naturally in
cells. Due to the absence of this enzyme, glycogen cannot be degraded and
accumulates within cells, resulting in dysfunction. In patients with Pompe
disease, this accumulation leads to progressive muscle weakness.
Pompe disease manifests as a broad spectrum of clinical
symptoms. All patients experience progressive muscle weakness and breathing
difficulty, but the rate of disease progression can vary widely depending on the
age of onset and the extent of organ involvement. When symptoms appear within a
few months of birth, the infantile-onset form, babies frequently display signs
of heart failure with a markedly enlarged heart and severe muscle weakness.
Death occurs by one year of age in up to 95 percent of this group of patients.
When symptoms appear during childhood, adolescence or adulthood, patients
typically experience steadily progressive debilitation due to muscle weakness
and premature death due to respiratory failure.
Myozyme, manufactured by Genzyme Corp. and approved by
the FDA on April 28, is the first and only approved drug in the
“For the first time, we have a chance to alter the
course of this devastating muscular disorder that routinely kills infants before
they are 18 months old and causes progressive disability in children and adults.
Prior to the approval of Myozyme, only supportive measures were available to
treat the symptoms of Pompe disease,” said Timothy Miller, MD, assistant professor or
neurology, pathology and pediatrics at The
Dr. Miller’s patient, Mrs. Moore, was diagnosed with the
disease in 2004 and suffers from progressive muscle weakness and breathing
difficulties that require her to wear a breathing mask at night. She had been
awaiting the FDA’s decision on Myozyne for months. Clinical trials of the drug
in children with Pompe’s disease had shown very positive results, but its
effects on adult-onset patients are still being studied. She also is aware of
the manufacturer’s warning of life-threatening allergic reactions in some of the
clinical trials.
“I am obviously very excited – but also scared of the
unknowns,” Mrs. Moore said.
With current enzyme-replacement delivery systems, Mrs.
Moore will require twice-monthly infusions of the drug for the rest of her life.
As a so-called orphan drug, this new medication is extraordinarily expensive,
likely costing $200,000 a year. Her insurer has agreed to cover the
expense.
For more information regarding Pompe disease or other
muscle disorders, contact Dr. Timothy Miller’s
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