When it comes to genetic medicine, nothing is more fascinating than studying human biology to unlock the secrets of life. Just recently, a geneticist with Atlantic Medical Group treated the first patient in the United States with a promising gene therapy developed by BioMarin, to help patients metabolize phenylalanine – an amino acid found in nearly all proteins.
This clinical trial is being conducted by Darius Adams, MD, board-certified in clinical biochemical genetics and medical director of the Jacobs Levy Genomic Medicine and Research Program at Atlantic Health System. It is an investigational therapy for an adult diagnosed with phenylketonuria (PKU), a genetic disorder that affects people from birth.
On the Forefront of Genomic Medicine
“We are excited to be studying this new therapy that could radically improve the lives of so many people,” says Dr. Adams, who will monitor this patient for five years to determine the treatment’s long-term safety and efficacy. “The impact of phenylketonuria stretches further than simply dietary concerns. The new therapy offers great promise for people to have a better quality of life, throughout their lifetime.”
Challenging Treatment Options Previously Available
PKU is caused by a genetic mutation in a person’s DNA. The gene therapy carries a gene sequence to replace it, targeting the liver cells and releasing the genetic material. The body “reads” this gene sequence and makes a copy of the enzyme that breaks down the phenylalanine.
While a certain amount of phenylalanine is needed by the body, an overabundance can cause problems, from behavioral and intellectual disorders to severe brain damage. To date, patients who have PKU have limited treatment options beyond dietary restrictions that begin in a person’s infancy or daily injections when they’re older.
“We are in an exciting period of genomic medicine, exploring the ability to help correct genetic diseases,” says Dr. Adams. “We are hopeful the success of this gene therapy will be the doorway to solving many more common health disorders.”
Identifying PKU at Newborn Screenings
Newborn screening began with the development of a blood test for phenylketonuria in the 1960s. The test was given to babies soon after birth, to allow physicians and dietitians to begin dietary therapy as needed – as soon as possible.
“At Goryeb Children’s Hospital and Children’s Health throughout Atlantic Health System, we strive to make patients’ lives healthier from the very earliest stages of childhood,” says Walter Rosenfeld, MD, chair of pediatrics. “While this initial trial involved an adult, its success offers great hope to parents and patients as an important new tool that could have a huge impact on their lives.”
Dr. Adams is part of Atlantic Medical Group, a multispecialty group of health care providers.
Learn more about the Jacobs Levy Genomic Medicine and Research Program >
The program can also be reached by phone at 973-971-7634.