HD Focus

Aktualizácia 10.12.2024   Doplnenie informácie o VO659 hovorí že liek je na báze ASO. A síce je cielená na mutovaný HTT proteín no mierne znižuje aj zdravý typ. Pri testovaní došlo aj k nežiadúcim učinkom spôsobeným poškodením nervov. Na odstránení tohoto problému sa pracuje. Podľa predbežných nových výsledkov bolo zníženie mutovaného HTT u niektorých ľudí …

VO659 – ďalšia antisense oligonucleotide štúdia Čítajte viac »

On December 10, 2024 we received a regulatory update from uniQure about their drug, AMT-130, that they’re advancing through the clinic for Huntington’s disease (HD). On the call, uniQure announced alignment with the FDA on key elements to get accelerated regulatory approval. Of this program, Matt Kapusta, the CEO of uniQure, said that they are […]

Lo scorso 23 novembre, la Sala Mediateca di Via Nomentana 52 ha ospitato il nostro secondo convegno annuale, un momento di incontro e approfondimento che ha ribadito l’importanza della ricerca, della condivisione e della cura per la qualità della vita dei pazienti affetti da malattie complesso come la MH. Un Approccio Multidisciplinare per la Cura […]

L'articolo Secondo Convegno Annuale: Un Successo per la Condivisione e la Ricerca sembra essere il primo su corea di huntington -AICH ROMA ONLUS -.

Vico Therapeutics recently presented at several conferences to share an interim update on their Phase 1/2a clinical trial testing their drug called VO659, which targets the repeating C-A-Gs in people with Huntington’s disease (HD). These data suggest that VO659 may be able to reduce levels of the toxic HD protein in the small group of participants tested so far and gives insights into safety. But how does VO659 work and how is Vico’s approach different to that of other companies? Let’s get into it.

Too many C-A-G repeats are the cause of HD

In everyone’s genetic code, there are 2 copies of a gene called Huntingtin, often shortened to HTT. Near the start of the HTT gene code, there are repeating C-A-G DNA letters. In folks who don’t have HD, both gene copies will have less than 35 C-A-G’s repeating in a row.

However, people with HD will have more than 35 C-A-G repeats, typically in just one of the copies of their HTT gene. This expansion of the C-A-G’s in the DNA is the genetic cause of HD.

Dimitri Poffé is an already known member of the HD Community. After testing positive for Huntington’s Disease, Dimitri embraced a bicycle journey through South America. In this project, called Explore […]

December 2, 2024 – PTC to receive $1.0B in cash at closing –– PTC is eligible to receive up to $1.9B in development, regulatory and sales milestones –– PTC to share profits in the U.S. and […]

The Phase 2 DIMENSION Study did not meet its primary endpoint Dalzanemdor was generally well-tolerated; no new safety signals were observed Based on these data, the Company does not plan […]

When it comes to gift-giving for the holidays, finding the perfect present for someone in the advanced stages of Huntington's disease...

On December 3, 2024 a study site gave word that the very first person received a new drug, called ALN-HTT02, as part of a Phase 1 trial aiming to treat Huntington’s disease (HD). Going boldly as the first human ever to receive this drug, they’re charting a course that we all hope will one day lead to a disease-modifying drug for HD. Let’s dig into the details of this new trial!

Who is behind this new trial?

In September, Alnylam Pharmaceuticals announced that they were launching a clinical trial to test their huntingtin-lowering drug. A spelling error in the gene huntingtin, called HTT for short, is what causes HD. Those who inherit this spelling mistake in HTT will go on to develop changes with mood, movement, and memory as HD progresses. Lowering levels of the HTT molecule with the spelling mistake is one strategy being tested in the clinic to potentially treat HD.

On December 3, 2024 we received word that the very first person received a new drug, called ALN-HTT02, as part of a Phase 1 trial aiming to treat Huntington’s disease (HD). Going boldly as the first human ever to receive this drug, they’re charting a course that we all hope will one day lead to […]

7.12.2024 – aktualizácia Tent týždeň bola podaná táto látka prvému človeku. Firma Alnylan je priekopníkom vo vývoji liekov na báze RNAí . Je to vlastne umelo vyrobený genetický materiál. Látka sa zameriava na exon 1 o ktorom sa predpokladá, že je toxický. Látka nie je selektívna takže znižuje oba HTT proteíny.  Originál článku tu.     6.11.2024 …

Alnylam – ALN-HTT02 Čítajte viac »

Cesta k rozhodnutí o umístění blízké osoby do pečovatelského domu je dlouhá, náročná a plná emocí. Na jejím konci jsme ale nalezli klid, úlevu a radost, které bych přála každému z vás, kdo se nacházíte v podobné situaci.   Jmenuji se Nikola a tento článek je mým osobním příběhem o tom, jak jsme s rodinou …

Cesta za lepší péčí: Jak jsme našli klid v těžkém rozhodnutí Čítajte viac »

In the spirit of gratitude, this Giving Tuesday, the HDBuzz editorial team would like to reflect on the unique and transformative role the Huntington’s disease (HD) family community plays in advancing scientific research. From their resilience in the face of this extremely challenging condition, to their extraordinary contributions to scientific studies, the HD family community […]

In the spirit of gratitude, this Giving Tuesday, the HDBuzz editorial team would like to reflect on the unique and transformative role the Huntington’s disease (HD) family community plays in advancing scientific research. From their resilience in the face of this extremely challenging condition, to their extraordinary contributions to scientific studies, the HD family community continues to be an essential partner in driving progress toward treatments and, one day soon, a treatmentcure.

Participation in Research: A Commitment to Progress

One of the most inspiring aspects of the HD family community is their unwavering commitment to participating in research. Clinical trials, observational studies, and other data collection efforts all rely heavily on the active involvement of individuals with HD, their families, and at-risk individuals. These studies demand time, effort, and emotional resilience, yet the HD community consistently rises to the occasion, understanding that their participation is key to scientific progress.

30 ноября в Оренбурге успешно прошла Школа здоровья для семей с болезнью Гентингтона. Программа реализуется при поддержке Фонда Президентских грантов. Это была уже третья по счету встреча, организованная нашим Центром в Оренбурге. Но программа Школы значительно… More »

The post Оренбург 30 ноября 2024 г. appeared first on Центр помощи пациентам с орфанными заболеваниями.

Explore the Summer 2024 edition of HA Highlights. In this issue, you’ll find: …and much more!