Sean Recke has had to take on the roles of caregiver, fundraiser and patient advocate for the past 10 years since his son, Adam, was diagnosed with Niemann-Pick type C disorder, a rare, fatal, genetic disease, also referred to as Childhood Alzheimer’s.

So when the Salisbury Middle School teacher learned the second phase of a national research study of a drug that could help his son was available, he campaigned successfully with Lehigh Valley Health Network’s chief medical officer, Thomas Whalen, M.D., for the network to become a study site.

After all, it would be closer to the Recke family home in Bethlehem Township and convenient for the other families in the Northeast who are desperately seeking an FDA-approved treatment for the neurologic condition from which their children suffer.

NPC refers to fat accumulation in the brain leading to toxicity, which destroys the cells that govern/enable mobility and cognition.

The symptoms of NPC include cognitive/neurologic decline, gaze irregularities, worsening hearing loss, seizures, balance difficulties and other motor deficits. Only 500 confirmed cases of Niemann-Pick have been diagnosed worldwide. People with NPC generally live to be only about 20 to 30 years old.

On Dec. 11, 2015, Adam, a Freedom High School junior, became the first person enrolled in the study at LVHN. This will relieve him and his family of the twice-monthly four-hour commutes to the National Institutes of Health in Bethesda, Md., where he completed the phase 1 study of the same drug, called cyclodextrin. This simple sugar compound shows evidence of helping reverse the decline of patients with NPC.

On Dec. 28, 2015, Adam had his first cyclodextrin infusion into his spinal fluid at Lehigh Valley Hospital, which will happen twice a month over the next two years. He will have his seventh injection March 24, the day before his 17th birthday.

“After fighting this horrible disease for 10 years, we are so happy to have LVHN and Vitesse (the study sponsor) working together to finally get FDA-approved treatment for Adam and all the NPC patients,” Sean Recke said. “The care Adam is receiving is outstanding and we really appreciate all the hard work to get this trial started.”

LVHN was the third site in the country to launch this phase 2 study, through which scientists hope to find evidence cyclodextrin is effective in reversing the deadly condition. A total of 10 research centers in the U.S., and a few in Europe, are expected to do the research.

“To enhance how we heal, comfort and care for our community, Lehigh Valley Health Network maintains a robust research program through our Network Office of Research and Innovation, the area’s only organization accredited by the Association for the Accreditation of Human Research Protection Programs,” Whalen said. “Discovery and innovation are critical activities that benefit many of our patients.”

LVHN clinical nurse coordinator for the study Sagan Loburak said the network also has enrolled a 5-year-old girl in the study and hopes to enroll two other patients. The study goal is to have a total of 51 people in the trial nationally, which is planned to last two years.

“This research is helping us on the road to find a cure for this devastating disease,” Sameh Morkous, M.D., LVHN’s chief of pediatric neurology and the study’s primary investigator, said.