HD Focus: News Across the Globe

With the holidays approaching, welcome news arrived on December 19th in a press release from uniQure. The latest data from the HD-GeneTRX studies of AMT-130, an experimental huntingtin-lowering gene therapy, shows that the drug still appears to be safe over the course of a few years. Since the number of participants is very small, we cannot yet draw conclusions about the effectiveness of AMT-130 to treat HD, but there are early, promising signs that AMT-130 holds potential to stabilize some symptoms. This means that the trial can safely continue and will hopefully expand in future.

A refresher on the HD-GeneTRX trials

First, let’s talk about the history of the first gene therapy for HD. Developed by uniQure, AMT-130 involves a harmless virus packaged with genetic material that is designed to lower the amount of huntingtin protein in the brain. We’ve covered a bit more on the science of this in a 2019 article. It was first thoroughly tested in many different animal models of HD before the current human safety studies, known as HD-GeneTRX-1 and HD-GeneTRX-2, began in 2020.

New data from uniQure, who developed a one-and-done gene therapy for Huntington’s disease (HD) called AMT-130, indicates that the drug is relatively safe and might be able to slow down signs and symptoms of HD. AMT-130 is currently under investigation in Phase I/II clinical trials in Europe and the US which are mainly focused on drug safety. These hot new data are very encouraging, so let’s dive into what it all means!

What is AMT-130?

Developed by uniQure, AMT-130 is the first gene therapy for HD. Like many of the other therapies being tested in the clinic right now, it aims to reduce the levels of the HD protein, huntingtin, in the brain. What makes it a bit different, however, is that AMT-130 is a one-and-done gene therapy; you are only given one dose of the drug ever in the course of your life.

AMT-130 is made up of a harmless virus packaged with genetic material that contains the instructions to reduce the amount of huntingtin in each cell that the virus infects in the brain. The drug is given to people with HD by a very specialised type of brain surgery.

Ahojte.  Chcem sa s vami všetkými podeliť o náš príbeh . Zobrali sme sa pred 20 rokmi s vedomím že moja manželka je v ohrození a môže zdediť tuto chorobu po otcovi. Keď sa prejavy stupňovali tak Majka išla na test a bol pozitívny. Nasledovalo hľadanie lekárov, nastavenie liekov. Toto obdobie bolo pre nás veľmi …

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With the holidays approaching, welcome news arrived on December 19th in a press release from uniQure. The latest data from the HD-GeneTRX studies of AMT-130, an experimental huntingtin-lowering gene therapy, shows that the drug still appears to be safe over the course of a few years. Since the number of participants is very small, we […]

Česká SPHCH sa na nás obrátila s ponukou účasti na sledovacej štúdii pána docenta Klempířa. (špičkového odborníka na HCH.) Text e-mailu : Prosíme o pomoc se sledovací studií, která monitoruje kvalitu života pacientů s HCH a pečujících osob. Jedná se o několik dotazníků, které lze vyplnit elektronicky (v PDF) a zaslat zpět e-mailem, případně vytisknout, …

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A ABH convida você para a Roda de Conversa #HuntingtonEmPauta! Tema do encontro: Lidando com os sentimentos de culpa e frustração como cuidador da DH 🗓️ Sábado, 17 de agosto ⏰ 14:30 h às 16:00 h 💻 Evento on-line via Google Meet ✋ Convite exclusivo para pacientes, familiares e cuidadores da comunidade de Doença de Huntington. Anote […]

O post Roda de Conversa ABH – Agosto/24 apareceu primeiro em ABH - Associação Brasil Huntington.

A Associação Brasil Huntington (ABH), em parceria com a BioDecision Analytics, convida você para um webinar a respeito de um estudo, realizado por brasileiros, que utilizou inteligência artificial para revolucionar a pesquisa e o futuro de novos tratamentos para a doença de Huntington. O estudo foi apoiado pela ABH, pela International Huntington Association (IHA), pela Federação […]

O post Webinar: Inteligência de Dados e Doença de Huntington – Novas Perspectivas Terapêuticas apareceu primeiro em ABH - Associação Brasil Huntington.

We’re back for the last day of the Hereditary Disease Foundation conference!

Serendipitous finding?

Up first is HDBuzz co-founder and editor emeritus, Jeff Carroll. Jeff’s lab studies HD in mice and cells in a dish and investigates different potential treatments.

The first story Jeff is telling us about is developing tools that lower HTT. He’s using something called an ASO, or antisense oligonucleotide. You may have heard of these if you followed Roche’s trials since tominersen is a HTT-lowering ASO.

Jeff’s team saw that when they lowered HTT with ASOs, the degree of somatic instability seemed to go down. But it turns out this is not because of the reduced amount of HTT protein, but a strange quirk of how ASOs work to target genetic message molecules. This doesn’t mean that HTT-lowering ASOs will reduce somatic instability in the key cells HD researchers are targeting. The doses would have to be crazy high to achieve this and then there might be unwanted off target effects. Still, an interesting observation - science is weird!

We’re back for Day 3 of the Hereditary Disease Foundation (HDF) conference! First up is a session on RNA dynamics - what’s that?! Read on to find out!

Different HTT forms have different effects

Up first is Gill Bates, who will tell us about her work in understanding how somatic expansion causes disease and investigating ideas targeting different forms of HTT, to help develop therapies for HD.

The HTT gene is very long! And sometimes only parts of it get turned into protein, particularly the beginning part. This happens more frequently in HD. It turns out that first little bit - called HTT1a - is quite toxic to cells. Gill’s team research HTT1a in mouse models of HD and they have studied a series of mice with different CAG repeat lengths, spanning mice with a low CAG repeat number to HD mice with very large CAG numbers. Then they measure which forms of the HTT protein are made in these mice.

La enfermedad de Huntington (EH) está causada por una alteración genética, es decir, una anomalía en uno de los genes que componen el ADN. Este tipo de alteración genética también […]

La entrada La Enfermedad de Huntington es hereditaria… ¿Qué significa esto? se publicó primero en .

Ayer, la empresa de biotecnología Prilenia ha anunciado que, según tenían previsto, han presentado la solicitud de autorización de comercialización (MAA, por sus siglas en inglés) ante la Agencia Europea […]

La entrada Novedades | Prilenia ha presentado ante la EMA la solicitud de autorización de comercialización para la Pridopidina.  se publicó primero en .

Welcome to Day 2 of the Hereditary Disease Foundation (HDF) conference! The morning was spent listening to an interview between a neurologist and their patient living with HD. All HDF meetings begin this way, to better connect scientists with the people who matter most, those living with HD.

Different flavors of HTT

Up first is Tony Reiner, who studies the structure of the brain and how it changes in HD. Interestingly, HD doesn’t affect the whole brain equally. There are certain parts that are more vulnerable - specifically, a region called the striatum, which is found almost exactly in the center of the brain.

Cells found within the striatum tend to get sick and die in HD, causing this part of the brain to get smaller as the disease progresses. The outer wrinkly bit of the brain, called the cortex, also shrinks in HD.

The gene that causes HD produces a protein (huntingtin, HTT) that is quite sticky, and clumps up in the brain. Tony’s work examines brains generously donated from HD families to track where these sticky clumps are found throughout the brain.

The HDBuzz team was back in Boston this year to livetweet updates from the Milton Wexler Biennial Symposium hosted by the Hereditary Disease Foundation (HDF), the first of which was held in 1998! This is a 4-day event that brings together almost 300 world leaders in Huntington’s disease (HD) research to share their current data, generate new ideas, and get us closer to a treatment for HD.

”I’m glad you’re sitting down for this”

Our first talk is by Fyodor Urnov, who will give us an update on editing the brain with CRISPR for therapeutics. Interesting! Dr. Urnov starts by reminding us how far things have come in brain research in the last few years, stating that he can give us a “healthy dose of optimism”.

He started by showing us a timeline of data that has led to medicines for editing DNA. It’s been an explosion over the past few decades! All culminating in the development of a regulatory approved drug, for blood-based diseases. HDBuzz wrote about that drug, called Casgevy, recently.

Fyodor will tell us about drivers of CRISPR progress, the revolutionary gene editing technology, and how they build on each other. Let’s go!

Era noviembre de 2018 y yo estaba en Colombia cuando comenzó mi historia con la enfermedad de Huntington.La noche anterior me habían comunicado desde Italia que en aquella mañana mi […]

La entrada El Viaje de Gabriele: descubre su historia de aceptación y concienciación frente a la Enfermedad de Huntington se publicó primero en .

Se me antoja tarea complicada resumir el pequeño milagro que me ha permitido  conocer la enfermedad de Huntington, así como recuperar el contacto con Luis, alumno al que di clase […]

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ASSEMBLEIA GERAL EXTRAORDINÁRIA Nos termos do Capítulo VI, Seção I, artigo 28 de seu Estatuto Social, a ABH – ASSOCIAÇÃO BRASIL HUNTINGTON convoca, extraordinariamente, os senhores associados, membros da Diretoria, Conselho Fiscal, Consultoria Técnico-Científica, amigos e colaboradores para a Assembleia Geral Extraordinária: DIA: 24 de agosto de 2024 HORÁRIO: 13:30 h – Primeira Convocação14 h […]

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Se me antoja tarea complicada resumir el pequeño milagro que me ha permitido  conocer la enfermedad de Huntington, así como recuperar el contacto con Luis, alumno al que di clase […]

La entrada Para Luis. El relato de David… se publicó primero en .

Riksförbundet Huntingtons sjukdom bjuder in till: Nationellt möte, torsdag den 26 september- Nationellt möte med inbjudna föreläsare och professioner från huntingtonteamen runt om i landet, vilka bland annat talar om; aktuell forskning, omvårdnad, utredningen om högspecialiserad vård, Fysioterapi och Arvsfondsprojekt YTAN. Det kommer även att finnas utställare på plats. Hoppas vi ses! Anmäl er till:  info@huntington.se…

Inlägget Anmäl er nu! Nationellt möte den 26 september – Läs programmet publicerades först på RHS Riksförbundet Huntingtons Sjukdom.