HD Focus

On June 20, 2024, we received an update from PTC Therapeutics about their ongoing trial, PIVOT-HD. PIVOT is testing PTC-518, a small molecule drug, taken as a pill, that lowers huntingtin (HTT) in people with Huntington’s disease (HD). Their most recent update shared data from people who had been on the drug for 12 months. Read on to learn what their new results tell us!

HTT lowering

Before we get into the juicy details of the data release, let’s cover some basics about why PTC is interested in lowering HTT and what they hope it will do.

We know that the genetic cause of HD is an expansion of the genetic code within the HTT gene. There’s an extra bit of genetic message that repeats the letters C, A, and G more times than it should. When someone has 40 or more CAG repeats in their HTT gene, they’ll go on to develop HD, unless researchers can find some way to intervene.

Update Huntington geneesmiddelenonderzoek; gunstige eerste resultaten van onderzoeksmiddel PTC518.

Afgelopen donderdagmiddag (20-juni-2024) heeft farmaceut PTC Therapeutics tussentijdse resultaten gedeeld van de Fase 2 PIVOT-HD studie voor de behandeling van de ziekte van Huntington (ZvH) met het middel PTC518. Hieruit blijkt dat er voorzichtig kan worden gezegd, dat er positieve resultaten zijn behaald. In Nederland nemen er momenteel 11 patiënten deel aan deze studie die loopt in het LUMC. 

At Month 12, mutant Huntingtin (mHTT) in the blood was lowered by 22% and 43% respectively for 5mg and 10mg doses. A similar result was seen in cerebrospinal fluid, where […]

A farmacêutica PTC Therapeutics divulgou um comunicado de imprensa com resultados preliminares do PIVOT-HD, ensaio clínico de fase II que avalia a segurança e eficácia do medicamento experimental PTC518 em pacientes com Doença de Huntington (DH). De acordo com o comunicado, os dados coletados ao longo de 12 meses demonstram que o medicamento experimental PTC518 […]

O post PTC Therapeutics divulga resultados preliminares do estudo PIVOT-HD com o PTC518 apareceu primeiro em ABH - Associação Brasil Huntington.

Scottish Huntington’s Association has announced a new fund to support the impact of research into ways to improve the lives of families impacted by Huntington’s disease in Scotland and beyond. The charity’s Impact and Engagement Fund has been made possible through a generous legacy donation in support of the charity’s

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The post Scottish Huntington’s Association launches its first funding call to support new research appeared first on Scottish Huntington's Association.

        Our work with children and young people has been recognised with a major national award. The YouthLink Scotland National Youth Work Awards – the ‘Oscars’ of the youth work sector – were held in Glasgow on 12 June 2024. Scottish Huntington’s Association beat stiff competition from

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The post Scottish Huntington’s Association scoops national youth work award appeared first on Scottish Huntington's Association.

Earlier this week Sage Therapeutics announced the results of their SURVEYOR study which quantified the cognitive impact of Huntington’s Disease.  Using the HD-Cognitive Assessment Battery (HD-CAB) they measured the difference […]

Reservera höstens utbildningsdagar redan nu! 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, RHS arvsfondsprojekt, fysioterapi. Det kommer även att finnas utställare på plats. Utbildningsdag om…

Inlägget Nationellt möte och utbildningsdag i höst den 26 & 27 september publicerades först på RHS Riksförbundet Huntingtons Sjukdom.

Reservera höstens utbildningsdagar redan nu! 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, RHS arvsfondsprojekt, fysioterapi. Det kommer även att finnas utställare på plats. Utbildningsdag om…

Inlägget Utbildningsdagar i höst 26 och 27 september publicerades först på RHS Riksförbundet Huntingtons Sjukdom.

Sage Therapeutics released a press statement on June 11th that focuses on the main results of a study called SURVEYOR, aimed at studying cognition (thinking) in Huntinton’s disease (HD) and testing the safety of a drug called dalzanemdor (previously SAGE-718). Let’s talk about what we know and what’s next!

Amplifying nerve cell messages to improve thinking

Sage Therapeutics works on brain health across a variety of diseases. One of their areas of focus is cognition (thinking) and executive function - the ability to make decisions, plan, and act on new information. This area of research is particularly relevant to the HD field, because cognitive changes have a huge impact for people living with HD.

Sage has been working on an experimental therapy called dalzanemdor. The drug acts on NMDA receptors, which help to transmit chemical messages between nerve cells. There is an imbalance in this messenger system across many diseases, which causes changes in thinking and memory. Dalzanemdor is a type of drug designed to boost the messages passed by NMDA receptors - it’s a bit like giving your brain cells a megaphone.

Two separate research groups recently published work on the blood-brain barrier (BBB). You can think of the BBB like a bouncer that keeps the riffraff out of the VIP section that is your brain. One group advanced how the brain’s barrier is modeled in the lab using stem cells. Another group developed a harmless virus that can be delivered intravenously (by IV) and get past the brain’s barrier to deliver drugs. While Huntington’s disease (HD) wasn’t specifically studied in either publication, both can advance how we study HD in the lab and eventually treat the disease.

Your brain is a VIP

Your brain is like a VIP section – not everything floating around in your blood and body is allowed there. Bacteria and viruses that may make your stomach or lungs sick are kept out of the brain. Even certain medicines are excluded, like antibiotics.

The brain’s bouncer is called the blood-brain barrier, or BBB for short. The BBB is incredibly selective about what is allowed into our brains. It’s established very early during development, before we’re ever born. Because the brain is so delicate, the BBB ensures that only privileged molecules and substances can get in.

[vc_row][vc_column][vc_column_text] A ABH e as famílias de Huntington foram convidadas para participar do XV Fórum Nacional de Políticas de Saúde no Brasil – Doenças Raras do Instituto Brasileiro de Ação Responsável que acontecerá no dia 13/junho, no Interlegis em Brasília/DF. O evento reunirá representantes de instituições do governo, da comunidade acadêmica, do setor produtivo e […]

O post Participe do XV Fórum Nacional de Políticas de Saúde no Brasil – Doenças Raras apareceu primeiro em ABH - Associação Brasil Huntington.

L’esperienza della convivenza con la malattia testimonia ed evidenza come l’ipotesi, l’attesa e la comparsa dell’Huntington siano dimensioni esistenziali, capaci di scandire e scardinare tanto la storia del malato quanto quella della famiglia nel suo complesso, nella quale sovente convivono più malati contemporaneamente. A cambiare forma sono i pensieri, i desideri, i progetti, i sogni, […]

L'articolo Fisioterapia, logopedia e stimolazione cognitiva proviene da huntington-onlus.

Missa inte den 2:a upplagan av webbinariet ”Forskningsuppdateringar för de nordiska länderna” Den europeiska Huntingtonföreningen/Moving Forward Teamet anordnar en andra upplaga av webbinariet ”Forskningsuppdateringar för de nordiska länderna” tillsammans med med RHS och den norska patientföreningen. Webbinariet kommer att hållas den 11 juni kl. 18:00 CET och det kommer att hållas på norska, svenska och…

Inlägget Missa inte andra upplagan av Nordiskt forskningswebbinar 11 juni kl 18.00 publicerades först på RHS Riksförbundet Huntingtons Sjukdom.