One dad's quest to develop rare disease treatments

Terry Pirovolakis successfully developed a gene therapy for his son, Michael, who has an ultra-rare disease called SPG50. Now, he's offering hope for other families facing similar hurdles through his company, Elpida Therapeutics, which is seeking to develop treatments for diseases too rare for pharmaceutical companies to tackle.

Although Pirovolakis has helped several children gain access to groundbreaking therapies, STAT's Jason Mast writes, systemic funding shortages and the complexities of scaling his model underscore how difficult it remains to address rare disease.

"I wanted to eradicate the disease," he said of his efforts to find a treatment for his son. "You want to take it out on something. Unfortunately, it's not a person or a country, it's an invisible disease. So what I could do is eradicate it, so it never affects another child."

CLINICAL TRIALS

AbbVie drug succeeds in another Parkinson's trial

From STAT's Andrew Joseph: AbbVie said this morning that its drug tavapadon succeeded in another Phase 3 study in Parkinson's disease, helping improve patients' symptoms and quality of life.

The TEMPO-2 trial tested flexible doses of tavapadon, ranging from 5 to 15 milligrams a day, in patients with early Parkinson's. The study met its primary endpoint, with patients on the drug showing a greater improvement after 26 weeks on a scale that measures symptoms and quality of life versus those on placebo. Specifically, patients on the study drug had an improvement of 10.3 points on the scale, known as MDS-UPDRS, while those on placebo saw a 1.2-point worsening, a statistically significant difference.

Tavapadon, a daily pill, works by partially activating the D1 and D5 dopamine receptors. In addition to the new flexible-dosing trial, the drug has also had positive Phase 3 trials when tested only at a high dose and when tested in combination with common dopamine therapy.

AbbVie plans to submit tavapadon to the FDA next year. It acquired the drug through its purchase of Cerevel Therapeutics, a deal whose centerpiece was an experimental schizophrenia drug called emraclidine. Last month, however, AbbVie reported that emraclidine failed in two studies.

congress

BIOSECURE Act is dealt a major blow

Proponents of the BIOSECURE Act suffered a major setback over the weekend, with the legislation being excluded from the must-pass defense budget bill.

The legislation was designed to prevent stateside biopharma companies from working with Chinese "companies of concern" in work that's contracted or funded by the U.S. government, as STAT's John Wilkerson writes.

There's still a chance that BIOSECURE could pass, if attached to stopgap government funding legislation before the end of the year. But prospects are dimming thanks to opponents like Sen. Rand Paul (R-Ky.).

vaccines

Trump echoes some of RFK Jr.'s vaccine stances

President-elect Trump was cautiously supportive of Robert F. Kennedy Jr.'s vaccine skepticism — suggesting a possible link between vaccines and autism. In an interview on NBC's "Meet the Press" that aired yesterday, Trump was asked: "Do you want to see childhood vaccines eliminated?" He responded: "If they're dangerous for children."

Those comments overlooked the fact that more than a dozen scientific studies have failed to find links between childhood vaccines and autism, as STAT's Matthew Herper points out.

Trump did acknowledge there have been some clear benefits to vaccination — particularly in the case of polio.

ash24

Marrow transplant study underscores importance of social determinants of health

Patients from disadvantaged neighborhoods were 33% less likely to receive a lifesaving bone marrow transplant, and faced a higher risk of death without one, new research from Fred Hutchinson Cancer Center that was presented at ASH shows. That said, survival rates post-transplant were consistent across socioeconomic groups.

"It really drills down on some of these social determinants of health as being access barriers for patients," Jeff Auletta, the health equity chief at the National Marrow Donor Program, who was not involved in the study, told STAT.

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