3 ms·
Huntington's is among the best candidates for a genetic cure: well known gene and mechanism, definitive pre symptomatic diagnosis, slow progression. But I am s
by tsoukase 1y ago
Huntington's is among the best candidates for a genetic cure: well known gene and mechanism, definitive pre symptomatic diagnosis, slow progression.
But I am still reluctant. It's phase 1/2 (ie exploratory) and the phase 3 is the hard part that takes many years. Also it's disease slowing not stopping.
- missedthecue 1y agoThe FDA has already agreed that data collected from this trial could be used to support a future BLA, and UniQure said this morning they're moving ahead with the BLA. In other words, uniQure likely will not need to run another trial before obtaining FDA approval for AMT-130.
- RataNova 1y agoHuntington's should be low-hanging fruit for gene therapy, at least in theory: monogenic, fully penetrant, good biomarkers, and a long diagnostic runway
- omnibrain 1y agoI think one of the troubles is deliviring the therapy, because generally the brain is protected from virii reaching him.
- Spacecosmonaut 1y agoI'm a genetic engineer at a large pharma company. We corrected the HTT gene in patient derived iPSCs in the lab. The region is a long repeat sequence of which a section needs to be deleted. Because of this the locus is quite difficult to genetically engineer, since it is difficult to target just the diseased allele but not the wild-type allele. Typical gene therapeutic approaches probably wont work, e.g. Cas9 (you'd need two cuts to delete the sequence), Base editors (cant delete sequence), prime editing (deletion is too large for standard prime editing). You'd either need a template based system such as homologous recombination (too inefficient) or something like twin-prime editing, but good luck getting that to work on repeat sequence.