closer look

Susannah’s cure holds out hope for n-of-1 ultra-rare diseases

Courtesy Luke Rosen

It’s hard to believe that your child having 30 seizures a week would be good news…unless she previously was having over 100 seizures a day. 

Susannah Rosen, now 10 years old, has rare mutations in a gene called KIF1A, which is associated with intellectual disability, spastic limbs, and atrophy of nerve cells in the brain and eye. When she was 8, she received an individualized treatment that limited her seizures and falls, let her walk more often, and nearly eliminated tremors that previously made it hard for her to hold a fork or crayon.

That treatment was from a nonprofit called n-Lorem, an organization founded by former Ionis CEO Stanley Crooke. Using the technology behind Ionis’ commercial gene therapy Spinraza, a treatment for spinal muscular atrophy, Crooke is hoping to craft bespoke treatments for patients with ultra-rare diseases for free. So far, the organization has treated 10 patients. But how can these treatments possibly scale to all the patients living with devastating ultra-rare diseases? Read more in Jonathan Wosen’s story. 

Health Tech

FTC shuts down genital-picture-based AI app

Earlier this year, STAT’s Lizzy Lawrence brought us news of a troubling pair of apps: HeHealth and Calmara, meant to identify sexually transmitted diseases from photos of users’ (in the case of HeHealth) or users’ partners’ genitals (in the case of Calmara). However, there was little proof the tool actually worked, lulling users into a false sense of security, or — as it may be — panic.

The app was permitted because it fell into an FDA gray zone, claiming to be a “lifestyle product” rather than a diagnostic medical device. 

However, the FTC got to the apps before the FDA did. In June, the FTC began investigating the company’s exaggerated marketing, and in July it got the company to agree to shut down the apps and delete personal user information, saying that the company didn’t have enough evidence for its health-based claims.

Read about the penis-scanning AI company here, and more from Lizzy on the apps’ shutdown here.

Mental Health

How ecstasy (might) become a therapeutic drug

By Sunday, the FDA is expected to rule on whether MDMA, in conjunction with therapy, can be used to treat post-traumatic stress disorder. The road to approving the psychedelic drug has been a long one, fraught by questions and setbacks.

In June, a FDA advisory panel voted against recommending the agency approve the drug, doubting the strength of the studies showing it worked. Onlookers are concerned that the trial data didn’t properly reflect participants’ thoughts of suicide. Former employees of Lykos, the company seeking the FDA approval, said the hype around the drug sometimes interfered with the scientific process in its drug trials.

“If we get an approval, there’s still work to be done. If the FDA delays its decision, there’s work to be done. Regardless of the outcome, we’ll still continue forward,” Blair Clark-Schoeb, Lykos’ chief communications officer, told STAT this week.

Ahead of the decision, STAT’s Olivia Goldhill and Meghana Keshavan answer common questions about how MDMA works, its risks, and the arguments for and against its approval.