Good news on gene therapy for Huntington’s

-

uniQure N.V. (NASDAQ: QURE), a leading gene therapy company advancing transformative therapies for patients with severe medical needs, today announced positive topline data from the pivotal Phase I/II study of AMT-130 for the treatment of Huntington’s disease. The study met its prespecified primary endpoint, with high-dose AMT-130 demonstrating a statistically significant slowing of disease progression as measured by the composite Unified Huntington’s Disease Rating Scale (cUHDRS) at 36 months compared to a propensity score-matched external control. The study also met a key secondary endpoint by achieving statistically significant slowing of disease progression as measured by Total Functional Capacity (TFC) at 36 months compared to a propensity score-matched external control.



Although this is not for SCA6, successful one-time administration of gene therapy (adeno-associated virus vector delivery of miRNA administered as a one time dose directly into the brain to decrease production of the toxic huntingtin protein)  for Huntington disease IS a proof of concept breakthrough of what may be also possible some day for SCA6. This is a Phase I/II trial with small numbers and it will require later stage trials to prove efficacy, but this is genuine medical progress and provides hope that the strategies Dr. Gomez has been describing to us of gene therapy to inhibit alpha1-ACT (that helped prevent ataxia progression in is SCA6 mouse model) may some day also go to trial. As you can see from the announcement, the accurate measurement of disease progression was critical to the ability to know whether the trial therapy worked. This illustrates how Dr. Gomez's work to more accurately measure disease progression in SCA6 is also critical to attract pharmaceutical companies to invest in trial therapy for SCA6.

I can't give you timelines for anything. This Huntington disease trial took 5 years after launched to get to the announcements of success this month. This certainly does provide more hope though for a future one-time dose of gene therapy to at least slow progression. Maybe the miRNA approach works better than antisense oligonucleotides. Anyway, we can ask Dr. Gomez about this at our next meeting with him.

Best wishes,
Terry

Comments

Post a Comment

Popular posts from this blog

Ataxia Expert PT Videos

-
Hi SCA6 Network members, I hope you all are well. I just received the below message from Dr. Tom Clouse who some of you may know. He has uploaded his exercise videos onto YouTube and is offering them for free. I live in FL with him and had the opportunity to discuss his book (Reclaiming Natural Movement) with him over lunch and later bought his book. He has an incredible and, to me, impressive, personal story of endurance, hope and activism. My knowledge about what exercises, physicla therapy work best are limited and I think Dr. Gomez has recommended things like yoga, tai chi or whatever keeps you going. The neat thing is that what Dr. Clouse has figured out seems to have worked for himself and he has also helped others, but it does require effort and I'm not going to go as far as saying that i know whether it works better than other things you might be doing. I am passing it along so you can try for yourself and see if it it helps you in any way. Even if it inspires you to keep d...
Read more

Research update 7/24

-
  Dr. Gomez, Hannah Casey, and his Team are making great progress with the electronic questionnaire. They have submitted their plan for this to their Institutional Review Board for approval. It can take some time to satisfy all reviewer questions but it is a good milestone to have submitted their plan to them. This electronic questionnaire will include people with SCA6 or SCA27B, a newly identified form of ataxia with symptoms similar to SCA6. This is smart because it allows for comparison of the comprehensive responses for each group to allow for a better understanding of the similarities and differences between these 2 ataxia types. We will let you know when it becomes available.  I know many of you are interested in hearing about the SCA6 research in Dr. GOmez's lab. I see a new publication titled: " Digital Measures of Postural Sway Quantify Balance Deficits in Spinocerebellar Ataxia" https://pubmed.ncbi.nlm.nih.gov/38357985/ I know we all are looking f...
Read more

Summary Sept. 24 zoom call

-
TDear Members, Thank you to those of you who were able to participate in Friday's meeting with Dr. Gomez. My apologies again for the late start due to forgetting I needed to use my personal computer which allows recording of the meetings rather than my work computer and back to back meetings that afternoon. At least it is recorded for those who missed it or want to listen again. Next time I will make sure I have nothing prior to this meeting so I can get it started earlier. I am very glad we had the meeting though; it was timely to discuss and encourage full participation in the survey (information attached), it was so great listening to Hannah Casey talk about it, and I think we all loved hearing about Dr. Gomez's other research progress also. I thought his discussion about current medicines was valuable, including his caution about not getting false hopes up about the Biohaven drug, certainly without FDA approval, which may not happen. We'll see. He sounded more optimis...
Read more