Mid-Atlantic Consortium Newsletter Summer 2013

Treatment of Urea Cycle Disorders with Carbaglu

Research conducted at the Children’s Hospital of Philadelphia (CHOP) and directed by Mendel Tuchman, M.D., is evaluating the effectiveness of a new drug treatment for several rare genetic conditions that cause abnormal build-up of ammonia and damage to internal organs of the body, including the brain. These conditions, collectively called urea cycle disorders, are caused by genetic mutations that impair the body’s ability to break down certain proteins in the normal way, and include propionic acidemia (PA), methylmalonic acidemia (MMA), carbamyl phosphate synthetase 1 deficiency (or CPSD) and ornithine transcarbamylase deficiency (or OTCD). In these disorders, ammonia levels fluctuate over time, and the new drug, Carbaglu (carglumic acid), is being used in this clinical trial to treat acute episodes linked to particularly high levels of ammonia.

The trial is double–blind and placebo controlled, meaning the effects of Carbaglu are compared to an identically-appearing but inactive “control drug.” Neither patients nor their doctors know who receives the real medication, and in this way, researchers can be far more certain that any benefits with Carbaglu are indeed caused by the medication rather than any influence of the wishes and hopes of the family and doctors. This clinical trial is being conducted in seven children’s hospitals across the country, including CHOP.

The effects of Carbaglu are evaluated in several ways, including its impact on mental and behavioral development, and its effectiveness in reducing ammonia levels, clinical responses and safety. Should the study show that Carbaglu is safe and effective, such results would be a major step forward in making this drug broadly available for affected children.

Study participants may include anyone with propionic acidemia (PA), methylmalonic acidemia (MMA), carbamyl phosphate synthetase 1 deficiency (or CPSD) or ornithine transcarbamylase deficiency (or OTCD). Particpants must be more than three years of age.

For more information about this project, contact Irma Payan, R.N., by email  at payan@email.chop.edu.