Imagine a situation where even the slightest emotion or stress can trigger high blood pressure, a racing heart and profuse sweating.

Now, imagine this happening several times a day. You receive a phone call from a good friend, you’re concentrating on solving a homework puzzle or waking up from a nap and all of a sudden your autonomic nervous system floods your body with adrenaline and you’re in full flight or fight mode.  This is day-to-day life for patients with familial dysautonomia (FD) who fail to sense blood pressure and stop the autonomic nerves releasing adrenaline like hormones. Overtime, these high peaks in blood pressure damage organs like the kidney and heart.

For patients with FD that have afferent baroreflex failure, there are no effective treatments. Drugs like clonidine and valium used to be the only options, but taking these leave patients extremely sedated and can dangerously depress respiration.

The Food and Drug Administration’s (FDA) Office of Orphan Products Development has a grants program to sponsor clinical trials in rare (orphan) disorders. FD is a rare inherited disease that affects the development of the nervous system. Investigators at the Center were awarded over one million dollars in funding for three years to test whether carbidopa – a drug that blocks the synthesis of adrenaline hormones outside the brain – can prevent high swings in blood pressure.

The grant award will fund the Center’s investigators to run a controlled clinical trial of carbidopa. The trial will see patients with FD take a high dose and a low dose of carbidopa and compare its effects against a placebo. Once complete, it will give us proof as to whether we can prevent hypertension with carbidopa without causing unwanted side effects.

In the last decade, federal funding for research has fallen and competition for grants has become intense. The panel of reviewers awarded the grant based on the promising preliminary data presented in the application. If carbidopa proves to be effective, it would be an important breakthrough for patients with afferent baroreflex failure, who’s lives are dominated by uncontrollable sudden spikes in blood pressure.