FayObserver.com

Ali Rockett

A federal law that puts treatments ofrare diseases on the fast track for approval has come too late for Luke andLogan Hendren of Lumberton.

Nevertheless, Meagan Hendren, the mother of the 15-month-old twins who suffer from a rare genetic disorder, lobbied for the legislation, saying it could help mothers avoid the pain she has experienced as the disease ravages her sons' tiny bodies.

U.S. Sen. Kay Hagan, a Democrat from North Carolina, introduced the Transforming the Regulatory Environment to Accelerate Access to Treatments Act. It was signed into law July 9 as part of the Food and Drug Administration Safety and Innovation Act. It takes steps to expedite the review process for drugs, treatments or devices to make more of them available.

"This gives a person hope and the possibility of a cure," Hendren said. "But for my boys, there is no future for them."

Hendren's sons suffer from Gaucher's disease, which affects the liver, spleen, lungs, kidneys and brain. Only a handful of children in the U.S. are born with the disease. There is no cure, and most children die before the age of 2.

The Hendrens' doctor, Joseph Muenzer, a professor of pediatrics and genetics at the University of North Carolina atChapel Hill, said Luke and Logan's disease has progressed too far for any drug to reverse its effects.

Fewer than 250 of the 6,800 known rare diseases have FDA-approved therapies, according to the National Organization of Rare Diseases.

"In North Carolina and across the country, thousands are living with diseases for which there are no adequate treatments - or no treatments at all," Hagan said in release last week. "The TREAT Act establishes a clear and effective pathway for turning ideas into cures, and cures into life-saving treatments for patients with rare and life-threatening diseases. I am hopeful that the (act) will bring renewed hope to these patients and their families."

Hagan met the Hendren family during one of their bimonthly trips to the North Carolina Children's Hospital in Chapel Hill for enzyme treatments that battle the effects of Gaucher's.

While the legislation promises to streamline the Food and Drug Administration's approval process, which can take an average of 10 years and billions of dollars, it is unclear how much faster this process will be.

Muenzer said it could be years beforepatients with a rare disease see the results of this new law.

"It's going to take time to see the true benefits," he said. "Unfortunately the Hendren twins will not be helped at all by the TREAT Act, but babies born with Gaucher's in the future could be."

According to the National Organization of Rare Diseases, a disease is considered rare if it affects fewer than 200,000 people.

Cynthia Powell, division chief of genetics and metabolism at North Carolina Children's Hospital, said most of its patients fall under that designation, which includes diseases such as sickle cell, an inherited blood disorder characterized by crescent-shaped red blood cells that lodge in tiny blood vessels, preventing the normal flow of oxygen; Tay-Sachs, a neurodegenerative disorder that causes exaggerated startle response to sudden noises, listlessness, loss of previously acquired skills, and severely diminished muscle tone; and Huntington's, a genetic, progressive, neurodegenerative disorder characterized by the gradual development of involuntary muscle movements and progressive deterioration of cognitive processes and memory.

"We're certainly happy that the act was passed and are hopeful that it will provide relief to many of our patients," Powell said. "It gives more attention to these rare disorders and more focused attention on drug development."

Powell and Muenzer said that because rare diseases affect so few people, it is difficult for pharmaceutical companies to build effective clinical trials.

An orphan disorder, Muenzer said, affects fewer than 2,000 people, and ultra-orphan disorders, fewer than 500.

Gaucher's is considered an orphan disease, but the Hendren twins suffer from an abnormal type, making it evenrarer, Muenzer said.

He said patients with these rare diseases often display them differently, or heterogeneously. This means that drugs targeting the disease will also affect patients differently.

The exorbitant costs of clinical trials further deter drug companies from taking on rare disorders, Muenzer said, because there is little return on their investment.

Muenzer said the TREAT Act allows the FDA to look outside of actual results in trial patients. He said a drug's success can be measured by improvement of biomarkers, which indicate changes in thebiological state or a pharmacologic responses to the drug.

He said the clinical trial process, which typically has three phases, would be abbreviated but could include an additional fourth phase of post-marketing studies to show benefits of the drug.

While Hagan's law promises to maintain the FDA's high standards for safety and effectiveness, Powell said it is too early to tell if this will happen.

"It's definitely going to be a fine balance between expediting things while ensuring that treatments are still safe," Powell said.

It's easier for the FDA to ask for additional tests, adding years to the approval process, Powell said, ratherthan rubber-stamping something that hasn't proven to benefit all patients or that has adverse affects.

But Muenzer said as long as parents are educated on the risks of an experimental treatment, they should be able to give their child a chance.

"Some of these disorders are so debilitating, like Gaucher's," Muenzer said. "Parents know the end result, but these treatments could prolong their child's life."

Hendren said she and her husband, Jarrod, are praying for a miracle.

"I'm always hopeful that something will come along," Hendren said. "We don't know what tomorrow will bring. We hope for miracles, but we know this disease is going to be the death of them."