Pyramidal Signs May Predict Time to Motor Onset in Huntington Disease Pyramidal signs are an early clinical feature in Huntington disease (HD) that may indicate proximity to disease onset.

Pyramidal signs appear more than a decade before motor onset in #HuntingtonDisease (HD) and may be an early clinical indicator of proximity to disease manifestation. Study in @cp-med.bsky.social

Learn more: https://bit.ly/4sRVcxX

#RareDisease #MedSky

Young Caregivers of Parents With Huntington Disease Face Compounded Burdens Adolescents and young adults who care for parents with HD experience disrupted development compounded by awareness of their own risk.

Young caregivers supporting parents with #HuntingtonDisease (HD) experience significant and wide-ranging challenges compounded by concern about the disease’s hereditary nature. Findings Disability and Rehabilitation.

Learn more: https://bit.ly/4sj47r5

#RareDisease #MedSky

Self-Inactivating CRISPR-Cas9 System Reduces mHTT With Fewer Off-Target Effects in HD Mice Researchers developed a self-inactivating CRISPR-Cas9 gene-editing approach that reduced mHTT with improved safety in HD mice.

Researchers developed a gene-editing approach that effectively reduced mutant huntingtin (#mHTT) levels and reversed key features of #HuntingtonDisease (HD) in a mouse model. Reported in Science Advances

Read more: https://bit.ly/3NLNDJL

#RareDisease #GeneEditing #MedSky

U01.01.063 Trinucleotide repeat expansion diseases Test your clinical knowledge of U01.01.063 Trinucleotide Repeat Expansion Diseases. Practice identifying repeat sequences, inheritance patterns, and the phenomenon of anticipation with this expert-curated MCQ set.

🔄 The Growing Mutation: Master the Trinucleotide Repeats! 🔄

Trinucleotide repeat expansion disorders are unique because the mutation "grows" as it is passed from one generation to the next.
#USMLEStep1 #MedEd #MedicalStudent #Genetics #Step1Prep #HighYield #MedSchool #HuntingtonDisease #FragileX

Votoplam Enters Phase 3 Trial for Early Symptomatic Huntington Disease Novartis investigators are now recruiting for a phase 3 trial to assess the efficacy and safety of votoplam in early symptomatic HD.

@novartis.bsky.social’ phase 3 clinical trial to evaluate the efficacy, safety, and tolerability of #Votoplam (#HTT227) in participants with early symptomatic Huntington disease (HD) is now recruiting.

Read more: https://bit.ly/3NDsFwQ

#RareDisease #ClinicalTrial #HuntingtonDisease #MedSky

Older Medications Often Used for Seizures in Juvenile HD, Without Epileptologist Guidance Patients with juvenile-onset HD are still mainly treated with older antiseizure medications, usually without epilepsy specialist care.

Despite advances in #Epilepsy care, pediatric patients with juvenile-onset #HuntingtonDisease (HD) primarily use older antiseizure medications, without the involvement of #Epileptologists. Study in @pedneurojournal.bsky.social

Read here: https://bit.ly/4uzjQVl

#RareDisease #Neurology

In Huntington Disease, 2 Biomarkers Track Striatal Atrophy in Opposite Directions Two biomarkers, NfL and TNFRSF8, show opposite associations with putamen volume in HD, suggesting a dual-pathology model of striatal atrophy.

An ultrasensitive cerebrospinal fluid (#CSF) proteomic analysis using the Next-Gen Ultra-Sensitive Immunoassay (#NULISA™) platform identified a dual-pathology model underlying striatal degeneration in #HuntingtonDisease.

Learn more: https://bit.ly/4ulLwgg

#RareDisease #MedSky

Check out our March calendars for our private discord game times and our #livestreams!
Make sure to follow us on #Twitch and #YouTube for lives
Impacted by #Huntingtondisease, 18+, and want to be apart of an incredible #gaming #community?
Send us a dm or apply: linktr.ee/hdreachgameoverhd 💙🎮

HD Gene Therapy AMT-130 Faces Requirement for Large Controlled Trial Before FDA Approval AMT-130, an investigational gene therapy for HD, will likely require a large controlled trial before the FDA will consider it for approval.

AMT-130, an investigational #GeneTherapy for #HuntingtonDisease (HD), will likely require a large controlled trial before it can be considered for approval, uniQure announced.

Read more: https://bit.ly/4sfOrFo

#RareDisease #AMT130 #ClinicalTrial

Skyhawk Applies for Provisional Australian Approval of SKY-0515 RNA-Splicing HD Therapy The Australian TGA determined SKY-0515, an oral RNA-splicing therapy for HD, is eligible to apply for provisional approval.

Skyhawk Therapeutics announced that SKY-0515, an investigational oral RNA-splicing therapy for #HuntingtonDisease (HD), has met the eligibility criteria to apply for provisional approval by the Australian Therapeutic Goods Administration.

Read more: https://bit.ly/4cpZeZ6

#RareDisease #SKY0515

Chimera Crosses Blood-Brain Barrier to Degrade mHTT Aggregates in Huntington Disease A compound with therapeutic potential in Huntington disease (HD) preferentially degrades mHTT aggregates and improves survival in model mice.

As reported in the @jacs.acspublications.org researchers demonstrated that a proteolysis-targeting chimera (#PROTAC) penetrates the brain to preferentially degrade mutant huntingtin (#mHTT) aggregates in #HuntingtonDisease (HD) mice.

Read here: https://bit.ly/4kTKS5d

#RareDisease #MedSky

🏷️ #sleepmedicine #huntingtonsdisease #huntingtondisease #phdlife #research

Functional Tests Can Aid in Interpreting Cognitive Changes in Huntington Disease Using common HD functional tests as anchors can help researchers determine when changes on cognitive measures are clinically significant.

Using functional capacity measures as anchors can help researchers determine the minimal clinically important difference (#MCID)—a measure of benefit used in clinical trials—for common cognitive tests in #HuntingtonDisease (HD).

Read more: https://bit.ly/45YbNa6

#RareDisease #MedSky

Positive 9-Month Findings From Phase 1 Trial of SKY-0515 for Huntington Disease Patients with HD who received SKY-0515 showed a mean 0.64-point improvement on the cUHDRS, compared with the expected 0.73-point decline.

Skyhawk Therapeutics announced positive 9-month interim findings from its phase 1 clinical trial of SKY-0515 for the treatment of #HuntingtonDisease (HD).

Read more: https://bit.ly/4tbDFl3

#RareDisease #SKY0515 #SkyhawkTherapeutics

HD Shows Distinctive Brain Rhythm Slowing on EEG, With Potential Sleep-Wake Cycle Impact Distinctive resting-state EEG findings in HD compared with AD may reflect pathophysiological mechanisms affecting vigilance.

Recent research published in @clinicalneuroph.bsky.social identified particular resting-state electroencephalographic (rsEEG) rhythms that may distinguish #HuntingtonDisease (HD) from #AlzheimerDisease (AD).

Read more: https://bit.ly/4ry7tqo

#RareDisease #MedSky

PD-CRS Cognitive Assessment Tool Captures Brain Pathology in HD The Parkinson Disease-Cognitive Rating Scale is a valid and biologically meaningful tool for assessing cognitive decline in HD.

The Parkinson Disease-Cognitive Rating Scale (PD-CRS) is a valid and biologically meaningful tool for assessing cognitive decline in #HuntingtonDisease (HD).

Read here: https://bit.ly/4qw9Iu7

#RareDisease #CognitiveDecline #Neurology

Young Adults With Expanded HTT Genes Show Attention Deficits Years Before HD Onset Young adults with expanded HTT genes show early sustained attention deficits long before motor symptoms of HD emerge.

Young adults who carry #HTT gene expansions associated with #HuntingtonDisease (HD) show measurable problems with sustained attention years before motor symptoms appear. Study in Alzheimer’s & Dementia @alzassociation.bsky.social

Read more: https://bit.ly/45QwhRQ

#RareDisease #MedSky

There’s still time to join the movement! Add your name to the Hope on Hold petition by THIS SUNDAY, 1/18 to ensure you are included, before HD Reach, HDF, HDSA, Help4HD and HDYO head to DC soon to formally submit this petition to the FDA.
✍️Sign today - bit.ly/Hope4HD
#curehd #huntingtondisease

Tau Deletion Worsens HD in Mouse Model, Showing Pitfalls of Tau-Targeting Therapies Although previous reports have suggested tau reduction as a therapeutic strategy in HD, normal tau protein may have a protective effect.

#NonhyperphosphorylatedTau may play a protective role in #HuntingtonDisease (HD), according to the results of a new study published in @moltherapy.bsky.social

Read here: https://bit.ly/3Yo2And

#RareDisease #MedSky

Gene Therapy Slows Huntington's Disease by 75% in Clinical Trial - Karmactive uniQure's AMT-130 gene therapy shows unprecedented 75% slowing of Huntington's disease progression. Patients maintain abilities longer, with one returning to work. FDA approval application expected in...

#Huntingtondisease first treatment effectively slows disease progression by 75% now faces FDA and approval hurdles. #AMT-130

What is HD PACE?
Learn why they are creating a clinic rating system and why your input is needed if you are impacted by #HuntingtonDisease. Go to hdpace.org to complete their survey. This is for the US at this time.

#hdreachgameoverhd #fyp #raredisease #advocacy #stardewvalley #HDReach #hdpace

Therapies targeting mutant huntingtin (mHTT) reduction in the brain hold promise as disease-modifying treatments for #HuntingtonDisease.

🔎 Dr. Nicholas Caron and the Hayden lab at UBC evaluated candidate molecular and imaging biomarkers after mHTT reduction in mice: https://bit.ly/48cILVx

Title graphic reading ‘Huntington’s Disease May No Longer Be a Life Sentence.’ Below the title is a simplified illustration representing the Huntington gene and scientific research. Additional text at the bottom credits the article to Claudia Logan, edited by Priscilla Wong. The EuSci logo is in the top right corner.”

Text reads: “This result changes everything. On the basis of these results it seems likely AMT-130 will be the first licensed treatment to slow Huntington’s Disease, which is truly world-changing stuff, while working no less diligently to add more effective treatments to the list.” [Interview statement from UCL News, 2025] background is an image of DNA with EuSci logo in bottom right corner

8,000 people in the UK live with Huntington’s, but a genetic breakthrough is reshaping what their future could look like. 🧬

Curious how close we are to a true treatment?

🔗 Read our latest blog post: eusci.org.uk/2025/11/24/h...

#ScienceCommunication #HuntingtonDisease ##MedicalBreakthrough

To my #HuntingtonDisease family and community ❤️❤️

Awareness. Education. Support. Community.

#HuntingtonSocietyOfCanada

youtu.be/xkV6Va1mFfU?...

For families impacted by #HuntingtonDisease, we know that there is no treatment for this disease. It’s a devastating illness and because it is genetic, each child of a patient has 50% chance of having the gene, and if so, has 100% chance of developing #HD.

SO THIS NEWS… is EPIC! #AMT-130 #Health

#PCBCommunity |✅ @fda.gov approves #SOMBiotech Phase 3 study for SOM3355 for #HuntingtonDisease: a rare hereditary and progressive neurological disorder. The drug has shown promising results in Phase 2b, improving #chorea, reducing anxiety and depression without causing drowsiness.🧠
👉 tuit.cat/sJLAs

Huntington's disease successfully treated for first time One of the most devastating diseases finally has a treatment that can slow its progression and transform lives, tearful doctors tell BBC.

Huntington disease affects approximately 75,000 people in the UK, US and Europe. According to the BBC, a new gene therapy has slowed Huntington’s disease progression by 75%!

Learn more here: www.bbc.com/news/article...

#ResearchSpotlight #HuntingtonDisease #GeneTherapy

Korsten et al. employ live cell imaging and expansion microscopy to show that nuclear polyQ aggregates associated with #HuntingtonDisease induce nuclear envelope (NE) blebbing and cause NE ruptures. rupress.org/jcb/article/...

📕 In our Intermediate Filaments collection: rupress.org/jcb/collecti...

And to some positive #news ❤️

🚨 #HuntingtonDisease successfully treated. It halts the disease by 75 percent and will potentially add decades to the affected. ❗
#health #GreatBritain

Professor #EdwardWild, #UCLQueenSquareInstituteofNeurology
youtu.be/bhExSMZt1zs?...

This is the most amazing news for patients and families living with the worst disease there is …they have now finally developed successful treatment for the first time ever for #HUNTINGTONDISEASE
#Healthcare #HDSOCIETY #HuntingtonsCanada

youtu.be/bhExSMZt1zs?...