When I mention rare diseases what do you think of first and same question when I say “peptide therapy”? I don’t typically think of these together, but a new FDA approval unites them.
The agency recently gave accelerated approval for a peptide therapy for Barth Syndrome.
Let’s go through this first.
FDA, rare diseases, & peptide therapy
- FDA Grants Accelerated Approval to First Treatment for Barth Syndrome. The path to this approval has been somewhat contentious. Here we have an approval without a standard Phase 3 trial and with just a combined Phase 2/3. Plus, a primary endpoint was missed. Overall, this is a high-risk decision by the agency, but there’s a pressing need to address this rare disease. There has been a lot of back and forth between the FDA and maker Stealth BioTherapeutics on Elamipretide, a tetrapeptide that targets the inner mitochondrial membrane. The agency had initially rejected a new drug application. Peptide drugs are very hot right now, of course. Then there are the unproven regenerative peptides I’ve been writing more about this year. It’s important to distinguish between carefully studied peptides versus this fad of peptides hawked by wellness influencers.
- FDA chiefs offer roadmap to expand custom gene-editing treatments like Baby KJ’s, STAT News. There is hope that more bespoke gene therapies might be possible moving forward. Speaking of which, let’s also talk about this next item.
- How to fix genetic ‘nonsense’: versatile gene-editing tool could tackle a host of diseases, Nature News. This is by Heidi Ledford on a new technology that gives hope for some rare diseases.
More recommended reads
- Extensive restoration of forelimb function in primates with spinal cord injury by neural stem cell transplantation, Nat Biotech.
- Remembering David Baltimore (1938–2025), Cell. My graduate mentor Mark Kamps had been in the Baltimore Lab so I heard stories of how great it was.
- Scientists pull ancient RNA from a woolly mammoth’s body, NPR. This is very cool. Here’s the original Cell paper: Ancient RNA expression profiles from the extinct woolly mammoth. If you aren’t a lab researcher, let me remind you that RNA is incrediby unstable. These days isolating ancient DNA isn’t that remarkable, but really old RNA is a different matter. In our labs we go to extreme measures to preserve RNA from freshly grown cells.
- Something Off About Recent Heart Failure Stem Cell Trial, Major Journal Admits, MedPage Today. This is about that BMJ MSCs for heart failure paper that I wrote about earlier.
- A continuous totipotent-like cell-based embryo model recapitulates mouse embryogenesis from zygotic genome activation to gastrulation, Nat Cell Bio.
Blast from the past
Centeno and Sipp interview on FDA stem cell oversight. This is from 2012. It seems like ancient history. How much is different now?
The blast from the past Centeno article was a very interesting read.
Sipp perfectly predicted Regenexx’s coming response if they lose to the FDA (which they did): “The company [Regenexx] will no doubt try to turn even a loss into a win by claiming government oppression, if it turns out the court rules in favor of the FDA. Either way, watch for it to be used in marketing materials for years to come”
Centeno still to this day, shouts they were “fighting the good fight”. He’s an expert at crowd psychology, kudos.