Latest news with #HuntingtonsDisease
BBC News
5 days ago
- General
- BBC News
Huntington's disease: 'Love keeps me going,' husband carer says
"I sleep very lightly, almost with one ear and one eye open," says Steve Duckett who cares for his wife, Sandy, who has Huntington's disease."I have learned to be a good carer but it is relentless," he Duckett, 72, first developed symptoms about 25 years inherited genetic condition, which her mother died of, leads to the progressive deterioration of behaviour, thinking and movement. There is currently no Duckett retired early -10 years ago - from his job in local government, to become a full-time carer."At that stage it was more to give Sandy companionship, to make sure she remembered to eat and to help her with everyday tasks," he says. 'You never really switch off' Mrs Duckett's condition has since deteriorated and her very complex health needs means she now qualifies for NHS continuing healthcare, which funds daily carers in their home. Mr Duckett describes the carers who look after his wife as "diamonds" and says their expert help has made a "huge difference". "They have given me my life back," he says, but admits he still cares for his wife for about 100 hours a week."I do all the night time care," he explains."I bear the responsibility of looking after her. You never really switch off. I am the one that knows her really well, watches the signs. "I try to make sure she is getting all the help she needs."Mrs Duckett has lost all of her mobility, needs to be hoisted and is mostly fed through a feeding tube because her ability to swallow has become severely compromised. But her attitude to the illness is "inspirational", her husband says."I have never heard her say, 'Why me?', she still maintains that stoic, positive approach to it," says Mr Duckett, adding: "She is remarkable."The couple, who live in Corfe Mullen in Dorset, married in 1973. Mr Duckett says they are "incredibly fortunate" that both of their children tested negative for Huntington's. Children have a 50% chance of inheriting the disease from an affected parent. 'Carers deserve recognition' Mrs Duckett is only able to speak occasional words."She still tells me she loves me and that makes me a bit tearful," Mr Duckett says. "My love for Sandy keeps me going."He reflects on how illness has altered their relationship."That change from husband to carer is subtle," he says."I have lost a lot, that explains why sometimes I feel a little bit sad."He is keen to raise awareness of Huntington's Disease and the role carers play."We have always been that couple who will say, 'Sandy has Huntington's, what do you want to know?'," he Huntington's Disease Association says there is a need for more awareness of the condition, including among some healthcare Duckett supports other carers in Dorset through voluntary work."Caring is a difficult, tough gig, it does become a bit of a burden," he says."You get used to coming second. I say to people, 'you need to look after yourself'."Carers UK says unpaid carers save the UK an estimated £184bn a year. But Mr Duckett says too often carer's stories are unheard."We are really valuable,which is why I think it's important that carers get the recognition and are respected." 'Selfless dedication' A government spokesperson says it recognises "the immense contribution of carers who selflessly dedicate their time to supporting others". "To ensure families get the support they need, we have increased the carer's allowance earnings limit by around an extra £2,000 a year – the biggest rise since it was introduced in 1976," they add."The Better Care Fund, backed by £9bn, includes funding that can be used to provide carers with short breaks and respite services. "Baroness Casey's independent commission into adult social care, which started in April, will explore the needs of unpaid carers who provide vital care and support." You can follow BBC Dorset on Facebook, X (Twitter), or Instagram.
Associated Press
6 days ago
- Business
- Associated Press
uniQure Provides Regulatory Update on AMT-130 for Huntington's Disease
~ Alignment with FDA continues to support Accelerated Approval pathway ~ ~ BLA submission planned for first quarter of 2026 ~ ~ Conference call today at 8:30 a.m. ET ~ LEXINGTON, Mass. and AMSTERDAM, June 02, 2025 (GLOBE NEWSWIRE) -- uniQure N.V. (NASDAQ: QURE), a leading gene therapy company advancing transformative therapies for patients with severe medical needs, today provided a regulatory update on AMT-130, its investigational gene therapy for the treatment of Huntington's disease. Following recent Type B meetings and further guidance from the U.S. Food and Drug Administration (FDA), the Company has reached alignment with the FDA on several key components of the statistical analysis plan and Chemistry, Manufacturing and Controls (CMC) information that will support a Biologics License Application (BLA) submission expected in the first quarter of 2026. 'We are very pleased with our continued, productive engagement with the FDA and the progress we've made toward a planned BLA submission for AMT-130 in the first quarter of 2026,' said Walid Abi-Saab, M.D., chief medical officer of uniQure. 'We are pursuing an accelerated approval pathway supported by multiple years of clinical data – a rigorous and differentiated approach that reflects the urgent need in Huntington's disease and our commitment to delivering the first disease-modifying treatment for people affected by this devastating disease. We are grateful to the FDA for their continued engagement and look forward to sharing three-year top-line data in the third quarter of 2025.' Statistical Analysis Plan In the second quarter of 2025, the Company held a Type B meeting with the FDA to discuss the proposed use of external control data and the prospectively defined statistical analysis plan (SAP) in support of the planned BLA submission for AMT-130. The FDA continued to support its prior agreement that the composite Unified Huntington's Disease Rating Scale (cUHDRS) may serve as an acceptable registrational, intermediate clinical endpoint for accelerated approval. The FDA agreed that the primary efficacy analysis for the BLA will evaluate the 3-year change in cUHDRS in high-dose AMT-130 patients compared to a propensity score-adjusted external control arm. The Company plans to use propensity score-weighted external control derived from the ENROLL-HD dataset for the primary analysis and to submit certain sensitivity analyses, including one using a propensity score-matched external control, as additional support. The FDA also agreed that ENROLL-HD – a large, prospective, longitudinal, natural history study of patients with Huntington's disease – may be acceptable as the external control dataset for the primary analysis of the trial data along with additional sensitivity analyses using the TRACK-HD/TRACK-ON and PREDICT-HD datasets. To date, approximately 33,000 patients have enrolled in ENROLL-HD. Compared to previously used natural history studies like TRACK-HD and PREDICT-HD, ENROLL-HD offers a substantially larger sample size, lower attrition rates, and longer average patient follow-up. The Company expects the larger sample size to reduce variability in the external control data and enhance the robustness of the SAP. The Company plans to submit an updated SAP consistent with discussions from the recently held Type B meeting to the FDA in the second quarter of 2025. Chemistry, Manufacturing and Controls (CMC) In the first quarter of 2025, the Company held a Type B meeting with the FDA to discuss CMC requirements in support of the planned BLA submission for AMT-130. The FDA agreed that validation of the AMT-130 manufacturing process should be possible using experience and prior knowledge from the etranacogene dezaparvovec-drlb (HEMGENIX®) process, complemented with additional full-scale AMT-130 GMP batches and a single Process Performance Qualification (PPQ) batch. The FDA also agreed with the Company's proposed drug product release testing plan, including the proposed potency assay, pending completion of qualification and specification setting activities. Next Steps for the Planned BLA Submission Based on these recent Type B meetings with the FDA, the Company continues to prepare for a BLA submission for AMT-130 in the treatment of Huntington's disease. Certain key next steps and expected timing include: Investor Conference Call and Webcast Information uniQure management will host an investor conference call and webcast today, Monday, June 2, 2025 at 8:30 a.m. ET. The event will be webcast under the Events & Presentations section of uniQure's website at and following the event a replay will be archived for 90 days. Interested parties participating by phone will need to register using this online form. After registering for dial-in details, all phone participants will receive an auto-generated e-mail containing a link to the dial-in number along with a personal PIN number to use to access the event by phone. If you are joining the conference call, please dial in 15 minutes before the start time. About the Phase I/II Clinical Program of AMT-130 uniQure is conducting two multi-center, dose-escalating, Phase I/II clinical studies to explore the safety, tolerability, and exploratory efficacy signals of AMT-130 for the treatment of Huntington's disease. In the U.S. study, a total of 26 patients with early manifest Huntington's disease were randomized to treatment (n=6 low dose; n=10 high dose) or an imitation (sham) surgical procedure (n=10). Treated patients received a single administration of AMT-130 through MRI-guided, convection-enhanced stereotactic neurosurgical delivery directly into the striatum (caudate and putamen). The study consists of a blinded 12-month core study period followed by unblinded long-term follow-up of treated patients for five years. An additional four control patients crossed over to treatment. The European open-label Phase Ib/II study of AMT-130 enrolled 13 patients with early manifest Huntington's disease (n=6 low dose; n=7 high dose). A third cohort enrolled an additional 12 patients across sites in the U.S. and EU. This cohort was randomized to explore both doses of AMT-130 in combination with immunosuppression, using the current, established stereotactic administration procedure. Additional details are available on (NCT0543017, NCT04120493) AMT-130 has been granted the FDA's Regenerative Medicine Advance Therapy (RMAT) designation and Breakthrough Therapy designation, the first therapy for Huntington's disease to receive an RMAT designation. About Huntington's Disease Huntington's disease is a rare, inherited neurodegenerative disorder that leads to motor symptoms including chorea, behavioral abnormalities and cognitive decline resulting in progressive physical and mental deterioration. The disease is an autosomal dominant condition with a disease-causing CAG repeat expansion in the first exon of the huntingtin gene that leads to the production and aggregation of abnormal protein in the brain. According to 2021 study in Neuroepidemiology, approximately 70,000 people have been diagnosed with Huntington's disease in the U.S. and Europe, with hundreds of thousands of others at risk of inheriting the disease. Despite the clear etiology of Huntington's disease, there are currently no approved therapies to delay the onset or to slow the disease's progression. About uniQure uniQure is delivering on the promise of gene therapy – single treatments with potentially curative results. The approvals of uniQure's gene therapy for hemophilia B – an historic achievement based on more than a decade of research and clinical development – represent a major milestone in the field of genomic medicine and ushers in a new treatment approach for patients living with hemophilia. uniQure is now advancing a pipeline of proprietary gene therapies for the treatment of patients with Huntington's disease, refractory temporal lobe epilepsy, ALS, Fabry disease, and other severe diseases. uniQure Forward-Looking Statements This press release contains forward-looking statements within the meaning of Section 27A of the Securities Act of 1933, as amended, and Section 21E of the Securities Exchange Act of 1934, as amended. All statements other than statements of historical fact are forward-looking statements, which are often indicated by terms such as 'anticipate,' 'believe,' 'could,' 'establish,' 'estimate,' 'expect,' 'goal,' 'intend,' 'look forward to', 'may,' 'plan,' 'potential,' 'predict,' 'project,' 'seek,' 'should,' 'will,' 'would' and similar expressions and the negatives of those terms. Forward-looking statements are based on management's beliefs and assumptions and on information available to management as of the date of this press release. Examples of these forward-looking statements include, but are not limited to, statements concerning: the availability of accelerated approval pathways and the need for additional pre-approval studies for AMT-130; the Company's anticipated timing of the BLA submission; the Company's plans to submit a revised SAP and CMC information to the FDA; the Company's ability to deliver a potentially life-changing therapy to people living with Huntington's disease and related timeline for doing so; the potential clinical and functional effects of AMT-130; the Company's plans to continue clinical development of AMT-130; the Company's plans to share clinical data of AMT-130 in the third quarter of 2025; and the utility of the ENROLL-HD patient dataset with respect to Phase I/II study. The Company may not actually achieve the plans, intentions or expectations disclosed in these forward-looking statements. Furthermore, the Company's actual results could differ materially from the plans, intentions and expectations anticipated in these forward-looking statements for many reasons. These risks and uncertainties include, among others: risks related to the Company's Phase I/ll clinical trials of AMT-130, including the risk that interim data from the trials may not be predictive of later data readouts that will serve as a basis for further regulatory interactions, may not support BLA submissions or accelerated approvals, may not be satisfactory to the FDA and other regulators, and new analyses of existing data and results may produce different conclusions than established as of the date hereof; risks related to the Company's current and future interactions with regulatory authorities, which may affect the initiation, timing and progress of clinical trials, its BLA submission plans and pathways to regulatory approval; risks related to the Company's ability to pursue business development efforts with respect to AMT-130; risks related to the Company's use of propensity-weighted external controls in connection with its statistical analysis of clinical outcomes to date; uncertainties as to the FDA's and other regulatory authorities' interpretation of the data from the Company's Phase I/ll clinical trials of AMT-130 and acceptance of the Company's clinical programs and the regulatory approval process;later developments with the FDA and other regulators that could be inconsistent with the feedback received to date; and whether regulatory authorities will accept the Company's approach as a basis for accelerated approval; risks related to the Company's use of nominal p values as a basis for its statistical analyses; whether the measurements that the Company is evaluating continue to be viewed as robust and sensitive measurements of disease progression; whether RMAT designation or any accelerated pathway, will lead to regulatory approval; the Company's ability to continue to build and maintain the infrastructure and personnel needed to achieve its goals; the Company's effectiveness in managing current and future clinical trials and regulatory processes; the Company's ability to demonstrate the therapeutic benefits of its gene therapy candidates in clinical trials; the continued development and acceptance of gene therapies; the Company's ability to obtain, maintain and protect its intellectual property; and the Company's ability to fund its operations and to raise additional capital as needed and on acceptable terms. These risks and uncertainties are more fully described under the heading 'Risk Factors' in the Company's periodic filings with the U.S. Securities & Exchange Commission (SEC), including its Annual Report on Form 10-K filed with the SEC on February 27, 2025, its Quarterly Reports on Form 10-Q filed May 9, 2025, and in other filings that the Company makes with the SEC from time to time. Given these risks, uncertainties and other factors, you should not place undue reliance on these forward-looking statements and, except as required by law, the Company assumes no obligation to update these forward-looking statements, even if new information becomes available in the future.
Yahoo
18-05-2025
- Health
- Yahoo
Sister pays tribute to 'kind and caring' mental health worker
The sister of a "kind and caring" mental health worker found dead at her home has paid tribute to her. Olivia Martinez, from the Pottergate area of Norwich, had spent the past three years working as a peer support worker for the Norfolk and Suffolk NHS Foundation Trust. But the body of the 29-year-old was found at her home by a friend in Waddington Street on Monday, May 5. An inquest opening into her death revealed that she had committed an act that ended her life. Oliver Martinez died earlier this month (Image: Submitted) Sharing a tribute with this paper, sister Serena Crofts said: 'We have set up a Go Fund Me to help fund her funeral. 'It is also to be able to make a donation to the Huntington's Disease Associate in her name, as this illness affected her life due to her mum and grandpa having the condition.' She went on to describe her sister as 'a kind caring young woman' who was 'loved by so many people'. READ MORE: READ MORE: Paying tribute via the Go Fund Me page, she added: 'Anyone who knew Liv, knew that she brightened up any room she was in. Whether that be by making funny TikTok [videos] or just being herself. 'Tragically, Liv lost her battle with her mental health and took her own life. This is something Olivia had been dealing with for over a decade. 'She has left a big hole in so many people's lives but the solace we can take is that she is back with her beautiful mother.' They family hope to be able to fund a white horse-drawn carriage for her funeral, complete with pink plumes. Olivia Martinez (Image: Norfolk and Waveney Mind) Ms Crofts added: 'We feel this is something she would adore, along with flowers and making the day as lovely as we can.' They also plan to donate to the Huntington's Disease Association and Norfolk and Waveney Mind, both important organisations to Ms Martinez. "She had done a lot of work closely with the Huntington's charity to raise money and awareness of the disease, so any money that is left over afterwards will be donated,' Ms Crofts added. 'We massively appreciate any help given whether it be a little or a lot. Know that no matter what, Olivia loved you all and would be so proud of us all coming together at this time.' Visit to donate. Do you need support? Samaritans can be reached 24/7 on 116 123 for completely confidential support and advice. The NHS First Response Service is available 24/7 on 111 option 2, providing urgent mental health support for people in Norfolk and Suffolk.
Yahoo
13-05-2025
- Health
- Yahoo
Orange County woman opens up about living with fatal, rare Huntington's disease
An Orange County woman is opening up about what it's like to live with a fatal, rare disease that's been compared to having ALS, Parkinson's and Alzheimer's all at once. Carrie Bryson, a 61-year-old Westminster resident, was diagnosed with Huntington's disease in January of this year. Huntington's disease is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. It only affects about one in every 10,000 people and, so far, does not have a cure. In light of Huntington's Disease Awareness Month, Bryson told KTLA's Chip Yost what her experience has been like. 'I started slurring my speech and my balance was off,' Bryson recounted. When she first started experiencing symptoms, Bryson said she was bothered not only by the twitching or other movements – but the fact that other people noticed, too. 'I'm self-conscious about it because a lot of people stare, or assume that I'm either high or loaded or, you know, have mental issues,' explained Bryson. One of the worst parts of this disease, according to medical experts, is that many people live what look like perfectly healthy lives into their 30s and 40s before they realize they have Huntington's disease. This means that most patients have already started families by the time they learn they have a 50/50 chance of passing a fatal disease onto their children. Bryson was 61 when she was diagnosed. She told KTLA that she hopes a cure is found – if not in time for her, then in time for her children. UC Irvine Bren professor Leslie Thompson, who's been researching Huntington's disease for 35 years, said that while there currently is no cure – there is hope. 'I think it's on the horizon that we will have at least treatments that delay the disease or delay onset and with time, hopefully a cure,' said Thompson. According to Huntington's Disease Society of America, the symptoms usually worsen over the course of 10 to 15 years. 'The symptoms – it's cognitive disability. You can't carry out daily tasks,' explained Thompson. 'Its psychiatric components are major depression and other features and then uncharacteristic movement. So it really is kind of the worst of Alzheimer's and Parkinson's and ALS, bringing all those together into one disease to some extent.' To learn more about Huntington's disease, click here. Copyright 2025 Nexstar Media, Inc. All rights reserved. This material may not be published, broadcast, rewritten, or redistributed.
BBC News
12-05-2025
- Entertainment
- BBC News
Bad Nanny - New series unmasks serial con-artist Samantha Cookes
Carrie Jade Williams appeared on social media in 2022, telling her 'heart-wrenching' story of living with the degenerative Huntington's disease. Her emotional videos and pleas for understanding struck a chord with many people. But when one of these posts went viral, questions started to be asked about the truthfulness of Carrie Jade Williams' story. Before long, some social media 'sleuths' discovered that 'Carrie Jade' wasn't this person's real identity. And much else of what they uncovered was even more shocking. Bad Nanny is a new two-part series which tells the story of the real person behind the name Carrie Jade – a serial con-artist with multiple assumed identities. The series features interviews with the online investigators who discovered that the woman's real name is Samantha Cookes and that that she wasn't just faking illness but had a hidden past, filled with deception and troubling claims dating back more than a decade. Samantha Cookes had also posed as a nanny, often for vulnerable families, as well as a child therapist and even a surrogate mother, all while hiding her true identity. The series hears from the victims who were conned by Samantha's fraudulent identities and scams across the UK and Ireland. Some of them had welcomed her into their homes, including a couple from North Yorkshire who talk for the first time about how Samantha posed as a surrogate mother to defraud them of their savings. A mother of three tells the programme how she believed she was hiring a 'Mary Poppins-like au-pair' at their home in County Offaly. She explains how Samantha (using the alias 'Lucy Hart') offered a desperately-needed childcare solution, before disappearing and leaving an ominous note that left her fearful for her children's safety. Bad Nanny also includes three women from Dublin who describe how Samantha posed as a therapist for children with additional needs under the alias 'Lucy Fitzwilliams'. They tell how 'Lucy' earned their trust by seeking donations for a women's refuge and collecting money for a bogus trip to Lapland. When they discovered that 'Lucy' wasn't who she said she was, she fled. A neighbour and Samantha's landlord explain how she moved to County Kerry where she adopted another identity: as a terminally-ill author with only months to live. She received support, sympathy and even financial aid, including welfare payments from the Irish state. Through first-person testimony from Samantha's victims, the UK police, those who knew her and the social media 'sleuths' who exposed her, the series shows the making and unmasking of a modern-day imposter. Bad Nanny is co-production for BBC Northern Ireland and RTÉ produced by Alleycats TV. It will be available on the BBC iPlayer and RTÉ Player from Monday 12 May. The first episode will air on BBC One Northern Ireland on Wednesday 14 May at 10.40pm. MD
