Trial Data Looks Promising for Experimental Alström Syndrome Treatment

According to a story from MarketWatch, the biopharmaceutical company Rhythm Pharmaceuticals, Inc., recently presented interim data from a Phase 2 trial of setmelanotide as a treatment for obesity associated with Alström syndrome. The data was first presented at ObesityWeek 2018, which was held in Nashville, TN from November 11-15th. The findings are consistent with prior data which suggests that the drug could be useful in addressing the obesity that occurs with the disorder.

About Alström Syndrome

Alström syndrome is an incredibly rare genetic disorder. There are currently just over 500 cases of the disorder known to science. The disease shares some similarities in presentation to Bardet-Biedl syndrome, but the symptoms tend to appear earlier. Alström syndrome is caused by mutations of the ALMS1 gene. The syndrome causes a variety of symptoms that affect many different systems of the body; these symptoms include childhood obesity, progressive decline in kidney function, heart failure, light sensitivity and vision problems, type 2 diabetes, developmental delays, learning disability, involuntary rapid eye movements, fatty liver, and insulin resistance. This disorder is difficult to detect and diagnosis is often delayed because doctors tend to diagnose the various symptoms as unrelated problems. There is no cure or currently approved therapies the address the underlying mechanism of the disease; treatment is primarily supportive and manages symptoms. To learn more about Alström syndrome, click here.

An Unmet Need

At this juncture, there are no therapies that are publicly available that are designed to address obesity associated with Alström syndrome or the closely related disorder Bardet-Biedl syndrome. Patients regularly experience excessive weight gain and excessive appetite. The data shows that setmelanotide has the capability to address both of these symptoms.


The data seems to suggest that the drug may be most effective in children; one patient saw a 20.9 percent weight decrease after 50 weeks of treatment. Two other pediatric patients saw decreases of 5.4 and 5.5 percent respectively. An adult who participated saw no significant weight or hunger changes after 12 weeks. There were no serious adverse events reported and no patient quit the trial because of them. 

These results are encouraging for the continued development of setmelanotide, and Rhythm hopes to test the drug with other rare genetic disorders which cause obesity. This will most likely include a combined Phase 3 clinical trial which will test setmelanotide against Alström syndrome and Bardet-Biedl syndrome simultaneously.

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