Latest news with #rareDisease
The Independent
7 days ago
- General
- The Independent
Reprieve for critically ill Mexican girl, 4, who could have died within days if deported under Trump order
The family of a four-year-old girl from California who is suffering from a rare disease will be spared deportation so that she can continue to receive life-saving medical treatment in the U.S. The family was granted temporary humanitarian permission to enter the U.S. from her home country of Mexico in 2023 after the little girl, Sofia, urgently needed treatment for short bowel syndrome, a rare condition that stops her from absorbing nutrients in food. The treatment she required was not available in Mexico and she condition was worsening, according to the family's lawyers. The family was targeted for deportation by the Trump administration, according to their lawyers. However, following media reports highlighting her case, lawmakers organized to demand she be given the chance to stay for humanitarian reasons. In April, the girl's mother, Deysi Vargas, learned that her humanitarian protections and her own permission to legally work in the U.S. was being revoked by the Trump administration, and a letter informing of her of that change advised her to voluntarily leave or else "the federal government will find you." Sofia's condition requires her to receive regular medical treatments that force her to be hooked up to an intravenous feeding system for 14 hours at night. Only a specialist team from Children's Hospital Los Angeles can oversee her medical needs. Her doctors at the hospital told the Los Angeles Times that she could die within days of stopping her treatments. 'By moving quickly, the agency has ensured that a four‑year‑old girl can continue receiving the specialized medical treatment that keeps her alive,' the family's attorney, Rebecca Brown of the nonprofit Public Counsel, told the LA Times. However, many families still face harm under the sweeping policy to do away with humanitarian parole. We ask the government to ensure that no one be put in harm's way.' A group of 38 congressional Democrats, including California Senators Alex Padilla and Adam Schiff, gathered to condemn her scheduled deportation and advocate on the family's behalf. The family learned on Monday via a letter from the U.S. Citizenship and Immigration Service that they had been granted "Humanitarian Parole for a period of one year." The Trump administration previously denied that the girl was being deported after her story became national news. Last week, a Department of Homeland Security spokesperson told The Independent via email that the family's application for humanitarian parole was "still being considered." 'Any reporting that Vargas and her family are actively being deported are FALSE,' the official said. 'This family applied with USCIS for humanitarian parole on May 14, 2025, and the application is still being considered.'
Sky News
16-05-2025
- Health
- Sky News
Baby gets world's first personalised gene therapy treatment
A baby born with a rare genetic disease is "growing and thriving" after getting bespoke gene therapy. It's the first time anyone in the world has been given an experimental gene-editing treatment designed specifically for their disease and took scientists just seven months to develop. Nine-and-a-half-month-old KJ Muldoon, from Clifton Heights, Pennsylvania, has a rare metabolic condition - known as severe carbamoyl phosphate synthetase 1 (CPS1) deficiency - that meant he has spent the first months of his life in a US hospital on a very restrictive diet. In February, however, the boy received the first dose of his bespoke treatment and then follow-up doses in March and April. "We prayed, we talked to people, we gathered information, and we eventually decided that this was the way we were going to go," said KJ's father Kyle Muldoon. KJ has been able to eat more normally and has recovered well from illnesses like colds, which can strain the body and exacerbate his symptoms. He also now takes fewer medications. Some experts estimate severe CPS1 deficiency affects one in a million babies. Those infants lack an enzyme needed to help remove ammonia from the body, so it can build up in their blood and become toxic. "We're still very much in the early stages of understanding what this medication may have done for KJ," said study author Dr Rebecca Ahrens-Nicklas, a gene therapy expert at the Children's Hospital of Philadelphia (CHOP). "But every day, he's showing us signs that he's growing and thriving." Considering how poorly KJ had been, "any time we see even the smallest milestone that he's meeting - like a little wave or rolling over - that's a big moment for us", said his mother Nicole Muldoon. The team behind KJ's treatment, made up of experts from CHOP and the University of Pennsylvania, published the results of their work in the New England Journal of Medicine. Gene therapy Gene therapy is an innovative treatment that aims to cure disease at the source, by editing the DNA causing the problem. The scientists working on KJ's case used CRISPR, the gene editing tool that won its inventors the Nobel Prize in 2020. In KJ's case, the team found the disease-causing mutation in his genes and created the treatment to flip a "letter" in his genetic code to the correct type. "This is the first step towards the use of gene editing therapies to treat a wide variety of rare genetic disorders for which there are currently no definitive medical treatments," said Dr Kiran Musunuru, a University of Pennsylvania gene-editing expert who co-authored the study. The scientists hope that by publishing the results of their treatment quickly, it'll help others to test out similar bespoke treatments. "Once someone comes with a breakthrough like this, it will take no time" for other teams to apply the lessons and move forward, said Carlos Moraes, a neurology professor at the University of Miami who wasn't involved in the study. "There are barriers, but I predict that they are going to be crossed in the next five to 10 years. Then the whole field will move as a block because we're pretty much ready."
Yahoo
14-05-2025
- Health
- Yahoo
A NEW HOPE FOR PATIENTS SUFFERING FROM POTENTIALLY FATAL RARE HEART DISEASE: NUHCS IS FIRST IN ASIA TO RECRUIT PATIENTS FOR LANDMARK GENE EDITING CLINICAL TRIAL
The international study explores gene editing therapy to stop the production of proteins causing the disease in ATTR-CM patients SINGAPORE, May 14, 2025 /PRNewswire/ -- While receiving treatment for a car accident ten years ago, Mr Chua learnt that he had an abnormal build-up of protein in his heart vessels. This discovery led to the diagnosis of a condition known as transthyretin amyloid cardiomyopathy (ATTR-CM), a rare disease currently affecting approximately 150 patients in Singapore. ATTR-CM is caused by the build-up of misfolded, deformed transthyretin proteins in the heart, nerves and other organs due to genetic mutation or ageing. Symptoms of this potentially fatal rare disease are often vague and may include numbness in the hands and feet, lethargy and dizziness. If not diagnosed and treated promptly, ATTR-CM can lead to heart failure. Over time, Mr Chua's hands and legs became stiff, and the once active 62-year-old could no longer walk. The subsequent years following his diagnosis were riddled with frequent visits to the hospital due to episodes of heart failure and multiple injuries from falls resulting from nerve issues caused by the disease. Despite being on years of medication, Mr Chua's condition had continued to decline, and his growing need for assistance with simple everyday tasks had greatly affected his spirit. There is currently no cure for this debilitating illness. A new international clinical trial may be set to change the trajectory of this disease for patients suffering from ATTR-CM – including Mr Chua. The MAGNITUDE study involves a single-dose gene editing therapy administered intravenously that will alter the patient's DNA, slowing down the production of the abnormal protein that causes the disease. Novel treatment offers new hope for patients Assistant Professor Lin Weiqin, Clinical Director of the Heart Failure and Cardiomyopathy Programme at the National University Heart Centre, Singapore (NUHCS), is leading the Singapore arm of this trial. He shared that the double-blind study will investigate the impact of the gene editing research medicine Nexiguran Ziclumeran (nex-z, also known as NTLA-2001) on ATTR-CM. "Gene editing therapy has been approved in other countries, for use in some neuro-muscular conditions, cancers and inherited blood disorders. If this trial is successful, it will be the first DNA altering treatment used in the field of adult cardiology and offers new hope to patients living with ATTR-CM," explained Asst Prof Lin, who is also a Senior Consultant at NUHCS. In Asia, the first patient of the double-blind clinical trial was recruited in Singapore and received his infusion in September 2024 at NUHCS. Since then, four more patients have been involved in the study, including Mr Chua, who was the fifth and most recent participant. The gene editing therapy is administered alongside the standard treatment for ATTR-CM as part of the study. While it may take another two to three years to see the outcomes of this study, early results of the trial medication in early phase clinical trials have shown promising results, with "consistent, rapid, and durable reductions" in the abnormal protein that causes ATTR-CM, and minimal side effects.[1] The patients in Singapore have also not reported any side effects thus far. NUHCS is the coordinating site for the Singapore trial. The heart centre is still recruiting patients, who must fulfil the following criteria: Between 18 to 90 years old Diagnosed with heart failure due to ATTR On medication for heart failure and have experienced heart failure in the past year For females, they are only eligible if they can no longer have children. About the National University Heart Centre, Singapore (NUHCS) The National University Heart Centre, Singapore (NUHCS) is an academic, national specialist centre under the National University Health System (NUHS). NUHCS brings together the resources, expertise and capabilities in the areas of Cardiology, Cardiothoracic and Vascular Surgery to better meet the needs of the growing number of patients with heart disease and raise the future generation of medical professionals. As one of two national heart centres in Singapore for the treatment and management of complex cardiovascular diseases, NUHCS offers six core clinical programmes including Heart Failure & Cardiomyopathy, Structural Heart Disease, Acute Coronary Syndrome, Heart Rhythm, Congenital & Structural Heart Disease and Women's Heart Health. The centre has been awarded two institutional Peaks of Excellence for its Minimally-invasive Cardiothoracic Surgery and Aortic Centre Programme, and has been ranked top in Singapore for three consecutive years in 2022, 2023 and 2024 for the specialty of Cardiac Surgery in Newsweek's "World's Best Hospital" Award. Comprising a team of internationally-recognised cardiologists and surgeons from the cardiothoracic and vascular specialties, NUHCS serves as a referral national centre for cardiothoracic and vascular conditions and provides a comprehensive approach to the treatment of these patients. The holistic patient-care approach is backed by leading translational research at the Cardiovascular Research Institute (CVRI) and Cardiovascular Metabolic Translational Program, all of which complements these advanced quaternary clinical services to deliver state-of-the-art treatment solutions to the most challenging heart, lung and circulatory diseases. NUHCS services span across four locations to serve the western and central locations in Singapore: NUHCS at National University Hospital (NUH), Kent Ridge - Main Operations NUHCS Heart Clinic @ Ng Teng Fong General Hospital (NTFGH) NUHCS Heart Clinic @ Jurong Medical Centre (JMC) NUHCS Heart Clinic @ Alexandra Hospital (AH) For more information, visit: [1] Fontana M, Solomon SD, Kachadourian J, Walsh L, Rocha R, Lebwohl D, Smith D, Täubel J, Gane EJ, Pilebro B, Adams D, Razvi Y, Olbertz J, Haagensen A, Zhu P, Xu Y, Leung A, Sonderfan A, Gutstein DE, Gillmore JD. CRISPR-Cas9 Gene Editing with Nexiguran Ziclumeran for ATTR Cardiomyopathy. N Engl J Med. 2024 Dec 12;391(23):2231-2241. doi: 10.1056/NEJMoa2412309. Epub 2024 Nov 16. PMID: 39555828. 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