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Patient at Atlantic Health Receives First US Dose for New Gene Therapy

Trial treatment represents promising possibilities for other disorders

A geneticist with Morristown-based Atlantic Health System’s physician network, Atlantic Medical Group, recently treated the first patient in the United States in a clinical trial with a genetic therapy developed by BioMarin, designed to help patients who are not able to metabolize phenylalanine, an amino acid found in nearly all proteins.

Darius Adams, MD, medical director of the Jacobs Levy Genomic Medicine and Research Program at Atlantic Health System and division chief of pediatric genetics, provided the therapy as part of a clinical trial that includes Atlantic Health System and currently two other hospitals worldwide.

The investigational therapy was given intravenously to an adult diagnosed with phenylketonuria (PKU), a genetic disorder that affects people from birth. The patient will be monitored for five years to determine the long-term safety and efficacy of the treatment.

“We are excited to be on the forefront of studying this new therapy that could radically improve the lives of so many people,” said Dr. Adams. “The impacts of phenylketonuria stretch further than simply dietary concerns, and this therapy offers great promise to these individuals to possibly having a better quality of life, throughout their lifetime.”

Dr. Adams’s work is supported by his colleagues, Christina Flora, research coordinator, and Lindsay Schumacher, dietician.

Newborn screening began with the development of a blood test for phenylketonuria in the 1960s. The test was given to babies soon after birth, in order to allow physicians and dietitians to begin dietary therapy as needed as soon as possible.

While a certain amount of phenylalanine is needed by the body, an overabundance of it can cause a range of problems, from behavioral and intellectual disorders, to severe brain damage.

To date, patients who have PKU have had limited treatments available to them, primarily in the form of specific dietary restrictions that begin in a person’s infancy or daily injections when older. Due to an abundance of carbohydrates replacing protein in these altered diets, obesity can often be a side effect. Maintaining these restrictions can become challenging later in life, such as during college years and depending upon a person’s profession in adulthood.

The disorder 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 then “reads” the gene sequence and makes a copy of the enzyme that can break down the phenylalanine.

“We are in an exciting period of genomic medicine, exploring the ability to help correct genetic diseases,” said Dr. Adams. “We are hopeful that the success of this gene therapy will be the doorway to solving many more common health disorders.”

Dr. Adams’s colleagues throughout at Atlantic Health System are enthusiastically supportive of his participation in the trial.

“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,” said Walter Rosenfeld, MD, chair of pediatrics. “While this initial trial involved an adult, its success offers great hope to parents and patients of all ages as an important new tool that could have a huge impact on their lives.”

The Jacobs Levy Genomic Medicine and Research Program at Atlantic Health System provides individualized, full-spectrum genomic care, designed to ensure that patients receive the medical and health services that will most benefit them.

This includes diagnostic testing based on symptoms, family history and result consultation with a licensed genetic counselor to thoroughly explain positive results and discuss further medical care options. For chronic patients, care includes follow up visits, blood level monitoring and medication management.

The genomic program treats and follows numerous patients diagnosed with PKU, with doctors and a dietitian helping them to closely monitor and track their level of phenylalanine, maintain their dietary modifications and prescribe injectable treatment.

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