Valid clinical trials are important to advance safe and effective patient care in this population. The drug discussed in the article, metyrosine, remains investigative. Patients on this medication may not be adequately monitored, and they may miss an opportunity to participate in other important ongoing studies if they are taking this medication outside of a research trial.
The Food and Drug Administration regulates investigational drug trials to protect patients and oversee quality and safety of the studies. For rare conditions such as 22qDS, the collaboration of multi-center trials allows investigators to draw conclusions about treatments more efficiently than single-center studies and provides better evidence than individual case reports of the drug as described in your article. Several promising studies of investigational drugs are ongoing for patients with 22qDS.
I encourage any families who are considering taking medications for the treatment of 22qDS to reach out to a specialized multidisciplinary team to discuss their options so they can make an informed and safe decision.
Emily Gallagher, Seattle