Smith-Magenis Syndrome (SMS) is caused by a deletion of the 17p 2,3 chromosome. the condition affects 1 in every 15,000-25,000 individuals. It often results in a sleep disorder, and various mental, physical, and behavioral issues. Of all of the symptoms, the most common and the most severe is the disrupted sleep, which can severely affect the patient’s quality of life.
But, there is a potential new treatment for this symptom!
Vanda Pharmaceuticals has just announced results from a study examining the effect of Hetlioz (tasimelteon) on sleep quality and duration for SMS patients. The drug is currently approved for Non-24 Hour Sleep Wake Disorder, but researchers believed it may also have a positive affect on SMS patients. So they started a trial.
“It was the largest placebo controlled study ever conducted demonstrating significant sleep improvements in patients with SMS.”
The study had 25 participants who were monitored over a 4 week period. Some patients were given tasimelteon, and some were given placebo. Their daily sleep quality and sleep duration were measured.
Results showed that tasimelteon was able to improve sleep duration by an average of 41 minutes every night. The study also showed improvement in sleep quality. These improvements stayed consistent across all patients, regardless of the length of chromosomal deletions. It also showed the same improvement in one patient who had a point mutation in the RA11 gene on chromosome 17p, a very rare form of SMS.
A 27 week study also indicated significant improvements in sleep quality and for aberrant behaviors.
The hope is that this drug will be able to improve the quality of life for both Smith-Magenis patients and their families.
The FDA has already granted tasimelteon Orphan Drug Designation, and Vanda hopes to receive marketing authorization soon.
Stay tuned for more updates concerning this potential treatment! In the meantime, you can read the full breakdown of this study and its results here.