3 Pediatric Neurology: https://kwnsfk27.r.eu-west-1.awstrack.me/L0/https:%2F%2Fauthors.elsevier.com%2Fa%2F1msSX39uenuW-p/1/0102019d45a03fba-811edca3-8989-468b-9643-485e4dbb08ec-000000/Iz_uBqmcZFBBt0i6e-m9KRsxRiY=472 Dawn B. Lammert, MD, PhD Carl E. Stafstrom, MD, PhD, Sanaya Shenoy, MSPH , Heather Riordan, MD, Jee A. Bang, MD, MPH

Porter Ranch, CA — For decades, James* was the very definition of success: a respected attorney, a devoted husband, and the proud patriarch of a thriving family. But behind the closed doors of his well-appointed home, a different story was quietly unfolding—one that would culminate in a devastating diagnosis at the age of 70. It began innocuously enough in his early 40s, with persistent, but light, movement in his leg, known as chorea. His wife, unaware of its significance, d

My cellphone has an app that shows me photos from years gone by. Memories for each day. Today's memories were a run of a lifetime with my husband, Nathan. Glimpses from dating through wedding, birth of our child, to now. When I say this, don’t take it wrong. I love my husband. But I sure miss the man I began dating, fell for, and married. I miss the walks, just being together, living life without having to always think of solutions before the problems. Most people can say si

Community Update: Novartis’ INVEST-HD Phase 3 trial: Site Initiations in USA and Canada March 16th, 2026 Dear Huntington’s Disease Community, We are delighted to share an update on the development of votoplam (formerly PTC518). Last month we shared the news that the votoplam Phase 3 clinical trial, INVEST-HD, has been posted on ClinicalTrials.gov . Further progress to initiate the study has been made since then: • We have activated our first sites for the study. This mean

s “To go back in a rare disease for sham surgeries is unethical,” Katie Jackson, president and CEO of Help 4 HD International, told BioSpace. “You’re asking people to get a sham surgery and sit in a placebo-like hold for one year, two years, three years,” preventing patients from participating in other clinical trials or from being able to receive AMT-130 in a future open-label extension study if they become too ill. Read the full article here: https://www.biospace.com/fda/un

Katie Jackson's response can be read at the following link: https://news.bloomberglaw.com/pharma-and-life-sciences/fda-push-for-10-hour-fake-brain-surgery-trial-raises-concerns

For ANY questions: medinfo@uniqure or 1-866-520-1257

FDA Seeks Feedback from Rare Disease Community The U.S. Food and Drug Administration (FDA) has opened a public docket to solicit input from the rare disease community. The FDA docket, available here , invites public comments from parties engaged in the design and conduct of rare disease clinical trials, including sponsors, investigators, patients, and patient advocates. This docket includes two distinct opportunities for feedback: The Center for Drug Evaluation and Research’s

On Thursday, February 26, Chairman Rick Scott of the U.S. Senate Special Committee on Aging will convene a hearing entitled “From Regulator to Roadblock: How FDA Bureaucracy Stifles Innovation.” This hearing will explore how regulatory processes and evolving standards at the Food and Drug Administration (FDA) can unintentionally delay patient access to safe and effective therapies, particularly for individuals living with rare diseases. Members and expert witnesses will share

Sarepta Therapeutics Announces Submission of Clinical Trial Application for SRP-1005, its Investigational Treatment for Huntington’s Disease 1/7/26– The first-in-human clinical study of SRP-1005, known as INSIGHTT, is expected to begin in the second quarter of 2026 CAMBRIDGE, Mass.--(BUSINESS WIRE)--Jan. 7, 2026-- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced the submission of its clinical trial applicati

Grieving Someone Lost to Huntington’s Disease: Navigating the Long Goodbye Grief is a deeply personal journey, but grieving someone who suffered from Huntington’s Disease (HD) is uniquely complex. Unlike sudden loss, HD can bring a prolonged, incremental farewell—one marked by gradual changes and emotional upheaval. Huntington’s disease profoundly affects an individual’s mood, movements, and cognition, creating unique challenges in daily life. Mood changes such as irritabilit

On January 22, Huntington’s disease organizations delivered two petitions to the FDA, demanding that the agency reverse its rollback on uniQure’s application for its HD gene therapy. In September, uniQure announced that its drug, AMT-130, had slowed the progression of HD by 75 percent over three years – a historic first. However, reflecting what critics saw as growing dysfunction under the Trump administration, the FDA abruptly switched gears regarding its agreed-to plan for

January 20, 2026 Dear Huntington’s Disease Community, On January 9th, uniQure issued a press release announcing that we scheduled a Type A meeting with the U.S. Food and Drug Administration (FDA). The purpose of this meeting is to discuss the Biologics License Application (BLA) data package to support accelerated approval of AMT-130, uniQure’s investigational gene therapy in Huntington’s disease. We are encouraged that the FDA has accepted our request for a Type A meeting. I

The Struggles of Internal Chorea: Impact on Digestion and Swallowing Internal chorea, a movement disorder characterized by involuntary, unpredictable muscle movements, presents unique challenges for those affected—particularly when it comes to eating and digestion. While the most visible symptoms involve limb, trunk, and facial movements, chorea can also disrupt the delicate coordination required for effective chewing, swallowing, and digestion. Difficulties with Chewing and

I have been thinking a lot about my Daddy lately. In my second year since his passing, I have had the opportunity to reflect deeply on the care I provided during his journey with Huntington’s Disease. Memories of beautiful vacations come to mind—moments of joy that were hard-won, the result of persistent advocacy and unwavering love. As a caregiver, I often felt as though I was facing an uphill climb. Even the simplest tasks, like accessing medication to manage chorea, became

Sarepta Therapeutics Announces Submission of Clinical Trial Application for SRP-1005, its Investigational Treatment for Huntington’s Disease 01/07/26 8:30 AM EST – The first-in-human clinical study of SRP-1005, known as INSIGHTT, is expected to begin in the second quarter of 2026 CAMBRIDGE, Mass.--(BUSINESS WIRE)--Jan. 7, 2026-- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced the submission of its clinical

As I sat down in the plush green chair across from my therapist, I knew we were going to spend much of the day’s session talking about the stresses of being a caregiver. I didn’t want to talk about endless hours I dedicate to my dad’s care, but my frustration that few people in my life understand the amount of effort it takes, both mentally and emotionally. This lack of understanding and acknowledgement has left me feeling extremely angry and alone. I know I am not the only o

LEXINGTON, Mass. and AMSTERDAM, Dec. 04, 2025 (GLOBE NEWSWIRE) -- uniQure N.V. (NASDAQ: QURE), a leading gene therapy company advancing transformative therapies for patients with severe medical needs, today announced that the company received final meeting minutes from the U.S. Food and Drug Administration (FDA) regarding a pre-Biologics License Application (BLA) meeting held on October 29, 2025 to discuss the application for AMT-130, an investigational gene therapy for Hunt

FDA Contacts: Emails OCOD@FDA.HHS.gov patientaffairs@fda.hhs.gov ombuds@oc.fda.gov Physical Address Food and Drug Administration Center for Biologics Evaluation and Research (CBER) 10903 New Hampshire Avenue Silver Spring, MD 20993-0002 Template One: Subject: Urgent: FDA Reconsider Accelerated Approval for uniQure’s AMT-130 Therapy in Huntington’s Disease Dear FDA CBER - We face a critical moment in the fight against Huntington’s disease. The FDA’s recent hesitation in allo