Latest news with #rareDisease
CBS News
9 hours ago
- Health
- CBS News
Bay Area family shares frustrations after FDA rejects drug for ultra-rare Barth Syndrome
With the FDA recently rejecting a drug application that aims to help those living with Barth Syndrome, one Bay Area family is frustrated by the delay of approved treatments in the rare disease community. Approximately 150 people live with Barth Syndrome nationwide, an ultra-rare genetic disorder that affects only males and impacts muscle and heart muscle health. "He has a severe heart failure, and was admitted to the hospital where he was on intravenous medications to help his heart pump," Megan Branagh, whose son Henry has Barth Syndrome, told CBS News Bay Area. Megan's son was diagnosed with the disease when he was three months old. "There's no treatment or cure for it at all, just simply symptom management," she said. There are currently no FDA-approved therapies for the disease, but Stealth BioTherapeutics has been working for years to get a target drug approved. "Extremely long and delayed," Megan said. "We were supposed to get an answer in January, and FDA asked for a three-month extension based on some data they had requested." The drug, elamipretide, targets cardiolipins, a molecule in the mitochondria that is a key source for the gene defect. It's the only drug for Barth Syndrome clinical trials. After several delays, however, the FDA announced it will not be approving the drug application. Megan believes federal budget cuts could be one of the reasons. "There was only one person left remaining at the FDA who had a hand on our case for this final part of it," she said. "We've heard from the current administration the desire to make medication available for the rare disease community, and the support of the rare disease community. And this case defies everything that has been publicly stated over the last few months." The FDA instead recommended that more data be included in the company's resubmission of the drug application. While the company said they are optimistic for a new path forward with the agency, families like the Branaghs are anxiously waiting for the approval. "Sickening to know that there's something out there that could make a difference that might never be available for Henry or anyone else," she said. Her son is 13 years old and has endured many challenges, taking at least eight pills a day and making frequent trips to the doctor's office. "I do it and I just get it over with," Henry Branagh told CBS News Bay Area. "And I wait six more months, and they usually put a heart monitor for two days and I take it off." He shared that he enjoys playing sports, including baseball, soccer, skiing, and swimming. "I love playing with my friends," Henry said. He added that he does take more frequent breaks to maintain his heart health, and hopes there will be more treatment options for him soon. "It'd be really nice for me to have it too, because my wish is to like live one day be normal without having Barth Syndrome," Henry said. "Mainly when I'm in sports, and I'm running around, and I get tired and other kids are running way faster and have way better stamina." Dr. Hitenda Patel, the Branagh's family cardiologist, told CBS News Bay Area that he doesn't see the application rejection as a denial. "I think the FDA wants a little more data on its efficacy," Patel, who is also the pediatric cardiology director at UCSF Benioff Children's Hospital in Oakland, said. "There are a lot more designer drugs being developed. And designer drugs specifically, are often for rare diseases. And if you only have, let's say, at the most 500 patients in the world, it's very hard to get approval based on the current mandates for the FDA," he added. Patel said FDA approvals in the pediatric rare disease community are an even bigger hill to climb. "It seems like it's a delaying tactic, but I think you have to respect the FDA and its process because it's what has allowed to develop many things," he said. "And ultimately, they are in charge of the safety of the American people." He said that with work from those like the Branagh's do make an impact. "With advocacy such as the Barth Syndrome and what the Branaghs are doing, FDA has realized that there is a huge difference between approval process that is needed for the pediatric and rare disease market as opposed to something that is more common," Patel said. "Because the FDA has its mandates and you have to go through the trial process, it takes a long, long, long time." Patel said he remains optimistic for the community that often gets overlooked. And so, the fight continues for the Branaghs. "Super proud. He inspires us to live our best every moment and take nothing for granted," Henry's mother said. "I think the worst thing to watch as a parent to know that your kid has something that you can't do anything about." She adds that she will continue to fight for his health, no matter how long it takes. "My parents help me out a lot, they just always push me and encourage me to keep on going," Henry said. CBS News Bay Area reached out to Stealth BioTherapeutics, and a spokesperson said that while there is no public timeline yet for next steps, they are working closely with the FDA urgently to reach approval. Meanwhile, the Branaghs are preparing for their next fundraising campaign that will take place at the JBL Ranch on September 27. "Our family started something called Happy Heart Week, that is an awareness and fundraising campaign all around Barth Syndrome. 13 years now, and all the funds go directly to the foundation to support everything that they're doing," she said.
Yahoo
16-06-2025
- Business
- Yahoo
UPSHER-SMITH SHOWCASES ITS COMMITMENT TO DUCHENNE MUSCULAR DYSTROPHY COMMUNITY AS A TRUSTED PARTNER IN PEDIATRIC RARE DISEASES AT THE PARENT PROJECT MUSCULAR DYSTROPHY (PPMD) 2025 ANNUAL CONFERENCE
Visit Upsher-Smith at the PPMD 2025 Annual Conference Resource Fair to Learn More About Support Services and Resources Offered for Deflazacort Tablets MAPLE GROVE, Minn., June 16, 2025 /PRNewswire/ -- Upsher-Smith Laboratories, LLC (Upsher-Smith) today announced its participation at the Parent Project Muscular Dystrophy (PPMD) 2025 Annual Conference from June 19-21, 2025 in Las Vegas, Nevada. Representatives from Upsher-Smith will be available to share information about Deflazacort Tablets and discuss the Company's intent and commitment to bring its best-in-class rare disease support and services to the Duchenne muscular dystrophy community. "Experience matters in rare disease. Founded in 1919, Upsher-Smith has been serving patients for more than 100 years and has a long-standing commitment to supporting the unique needs of rare disease communities," said Jim Maahs, Head of Commercial, Upsher-Smith. "As a trusted partner in pediatric rare disease, we invite attendees to visit us during this year's PPMD Annual Conference to learn how Upsher-Smith is committing to elevating the standard of support for patients and families affected by Duchenne muscular dystrophy (DMD) by offering high-quality generic treatment options that match or exceed the level of support services provided by innovator brands." About Upsher-Smith's Deflazacort Tablets Deflazacort Tablets from Upsher-Smith are an AB-rated generic version of Emflaza® (deflazacort) Tablets.1 This means they have the same active ingredient in the same strength and dosage form and provide the same efficacy, tolerability, and safety as Emflaza®.1 Deflazacort Tablets are indicated for the treatment of DMD in patients 5 years of age and older. Upsher-Smith's Deflazacort Tablets are available in 6 mg, 18 mg, 30 mg and 36 mg strengths. Deflazacort tablets are manufactured by Upsher-Smith in Minnesota. INDICATION & IMPORTANT SAFETY INFORMATION FOR DEFLAZACORT TABLETS INDICATION DEFLAZACORT TABLETS are a corticosteroid indicated for the treatment of Duchenne muscular dystrophy (DMD) in patients 5 years of age and older. IMPORTANT SAFETY INFORMATION Contraindications: DEFLAZACORT TABLETS are contraindicated in patients with a hypersensitivity to deflazacort or any of the inactive ingredients. Warnings & Precautions Alterations in Endocrine Function: Corticosteroids, such as DEFLAZACORT, can cause serious and life-threatening alterations in endocrine function, especially with chronic use. Monitor patients receiving DEFLAZACORT for Cushing's syndrome, hyperglycemia, and adrenal insufficiency after DEFLAZACORT withdrawal. In addition, patients with hypopituitarism, primary adrenal insufficiency or congenital adrenal hyperplasia, altered thyroid function, or pheochromocytoma may be at increased risk for adverse endocrine events. Acute adrenal insufficiency or "withdrawal syndrome" can occur if corticosteroids are withdrawn abruptly and can be fatal. The risk is reduced by gradually tapering the corticosteroid dose when withdrawing treatment. During times of medical stress, corticosteroid dosage may need to be increased. Immunosuppression and Increased Risk of Infection: Increased risk of new, exacerbation, dissemination, or reactivation of latent infections, which can be severe and at times fatal; signs and symptoms of infection may be masked. Monitor for the development of infection and consider DEFLAZACORT withdrawal or dosage reduction as needed. Tell patients and/or caregivers to inform their healthcare provider if the patient has had recent or ongoing infections or if they have recently received a vaccine. Warn patients who are on corticosteroids who have not had chickenpox or measles to avoid exposure to chickenpox or measles and to alert their healthcare provider immediately if they are exposed. Alterations in Cardiovascular/Renal Function: Monitor for elevated blood pressure. Dietary salt restriction and potassium supplementation may be necessary. DEFLAZACORT should be used with caution in patients with congestive heart failure, hypertension, or renal insufficiency. Gastrointestinal Perforation: Increased risk of gastrointestinal perforation during corticosteroid use in patients with certain gastrointestinal disorders such as active or latent peptic ulcers, diverticulitis, recent intestinal anastomoses, and inflammatory bowel disease. Signs and symptoms may be masked. Behavioral and Mood Disturbances: May include euphoria, insomnia, mood swings, personality changes, severe depression, and psychosis. Symptoms typically emerge within a few days or weeks of starting treatment and may be dose-related. Inform patients or caregivers of the potential for behavioral and mood changes. Effects on Bones: The risk of osteoporosis increases with prolonged use of DEFLAZACORT, which can predispose patients to vertebral and long bone fractures. Monitor for decreases in bone density with chronic use of DEFLAZACORT. Encourage patients to seek medical attention if symptoms develop or worsen. Ophthalmic Effects: May include cataract formation, ocular infections, and glaucoma. If treatment with corticosteroids, including DEFLAZACORT, are continued for more than 6 weeks, monitor intraocular pressure. Vaccination: Do not administer live or live attenuated vaccines to patients receiving immunosuppressive doses of corticosteroids. Administer live-attenuated or live vaccines at least 4 to 6 weeks prior to starting DEFLAZACORT. Serious Skin Rashes: Toxic epidermal necrolysis has been reported with the use of deflazacort. Discontinue at the first sign of rash, unless the rash is clearly not drug related. Effects on Growth and Development: Long-term use of corticosteroids, including DEFLAZACORT, can have negative effects on growth and development in children. Thromboembolic Events: Observational studies have shown an increased risk of thromboembolism. Use DEFLAZACORT with caution in patients who have or may be predisposed to thromboembolic disorders. Adverse Reactions: The most common adverse reactions (≥10% for DEFLAZACORT and greater than placebo) are Cushingoid appearance, weight increased, increased appetite, upper respiratory tract infection, cough, pollakiuria, hirsutism, central obesity, and nasopharyngitis. Drug Interactions: Give one third of the recommended dose of DEFLAZACORT when DEFLAZACORT is administered with strong or moderate CYP3A4 inhibitors. Avoid use of strong or moderate CYP3A4 inducers with DEFLAZACORT, as they may reduce efficacy. This safety information is not comprehensive. Please see the full Prescribing Information for DEFLAZACORT TABLETS. You can also visit or call 1-888-650-3789. You are encouraged to report suspected adverse reactions to Upsher-Smith Laboratories, LLC at 1-888-650-3789 or to the FDA by visiting About Upsher-SmithUpsher-Smith Laboratories, LLC, now a member of Bora Group, is a trusted U.S. pharmaceutical company that strives to improve the health and lives of patients through an unwavering commitment to high-quality products and sustainable growth. We bring generics and brands to a wide array of customers, always backed by our attentive level of service, strong industry relationships, and dedication to uninterrupted supply. For more information, visit About Bora Founded in 2007, Bora Pharmaceutical Co., Ltd. ("Bora" or "the Company", now is the largest pharmaceutical manufacturer in Taiwan with well-connected global distribution to supply more than 100 countries around the world. Bora is dedicated to becoming a global leader in pharmaceutical manufacturing by offering its clients the best quality, efficiency and reliability. For more information, visit Reference: 1. Approved Drug Products with Therapeutic Equivalence Evaluations | Orange Book Food and Drug Administration Website. gov/scripts/cder/ob/ Emflaza is a registered trademark of PTC Therapeutics, Inc. View original content to download multimedia: SOURCE Upsher-Smith Laboratories, LLC
CTV News
12-06-2025
- Health
- CTV News
Moncton kid battles rare genetic disease
Atlantic Watch A Moncton couple is preparing for the possibility of losing their young son to a rare genetic disease.
News24
11-06-2025
- Health
- News24
Joburg woman finishes epic N1 walk to Cape Town for husband's rare disease 10 days early
Nicole Liedemann-Telukram completed her 1 400km walk from Johannesburg to Cape Town 10 days ahead of schedule, raising awareness and funds for her husband Shaun's rare condition, Dercum's disease. Supported throughout the journey by her best friend, Paballo, in a safety vehicle and her trusty boerboel, Zaza, Nicole described the journey as physically and emotionally transformative, highlighting the mental endurance required and the generosity of South Africans along the way. The campaign has raised R15 000 so far, and Nicole remains committed to fighting for rare disease research and funding, saying, 'This is just the start.' Nicole Liedemann-Telukram has completed her 1 400km walk from Johannesburg to Cape Town, 10 days ahead of schedule. Just over a month ago, Nicole decided to embark on a journey along the N1 to raise awareness and funds for her husband Shaun Telukram's rare disease, called Dercum's disease. She documented the trip on TikTok and directed followers to her fundraising platforms. - See Nicole's BackaBuddy page More than a month after starting the walk, she arrived in sunny Cape Town to take a photo at the famous V&A Waterfront sign. Her journey was not without difficulties. A pulled hamstring just after Lainsburg and the physical demands of walking the Huguenot Tunnel tested her endurance. One of the most physically taxing parts of her journey was near Colesberg when she battled blisters and the flu. 'My body felt like it was giving up on me,' Nicole told News24 in Cape Town. 'When you are walking, it's only yourself and your thoughts. I don't walk with earphones in; it's just myself and the road. Your mind gets to you, where you feel self-doubt, but you have to pull yourself towards yourself and remind yourself the reason why you are doing it.' While the first leg of the journey began with excitement, the second half became more difficult. 'It's not just about Dercum's, it's about so many things,' she said. Nicole expressed deep gratitude for the support of her best friend, Paballo, who accompanied her by car for the entire journey for safety and her trusty boerboel, Zaza. 'Paddy, my sister, my best friend, motivator, Swiss Army knife, master of all... I could not be more grateful. I don't think there are enough words to describe how blessed I was to have had her on this journey. Yes, I was walking, but I could not have done it without her.' Supplied/Neo Paballo-Mahao Because the pair remained vigilant, they generally felt safe on their journey. One hair-raising moment came in Paarl, where they heard that a body had been found nearby. This did not deter them: 'There was a task that needed to be completed, a personal task, a mental task, an emotional task, a physical task. And yes, we completed it. I'm still in awe.' Kind South Africans and the plight goes on Nicole arrived in Cape Town last week with a deep sense of fulfilment. 'I sat there in silence with a big smile on my face. We did it. I actually did it. When you do something out of your comfort zone and succeed, it takes you back a little. I was filled with emotion, excitement and fulfilment.' READ | Joburg woman halfway through N1 walk to Cape Town, beating blisters, blessed by strangers Messages of pride and congratulations from family and friends continue to pour in. 'I hope I reached the people I needed to. The people we spoke to along the way made it all worthwhile. Mentally, I'm okay – I haven't processed everything yet, but I'm still extremely positive and optimistic.' The campaign has so far raised around R15 000 and Nicole is determined to continue her fundraising efforts and search for sponsors, as they aim to reach R200 000. Dr Karen Herbst, one of the leading Dercum's researchers in the world, based in the US, also got in touch to amplify Nicole's efforts. 'We did not raise too much, but my plight has not stopped. I'm still continuing to raise awareness and funds. We didn't raise much at all, but it doesn't take away from the reason why I did this and why I am still going to continue to fight for a rare disease and for my husband.' Rare disease research is underfunded. We need chemical pathologists to do the work, but we also need the funding. My mission is not complete yet. Reflecting on the experience, Nicole said the journey was unforgettable. 'South Africa is a beautiful place. People in small towns are kind and generous. The trucking community became our cocoon of safety. We stayed at truck stops. There are so many people I want to thank. There are a lot of amazing people in this country.' 'This is just the start.'
The Independent
04-06-2025
- 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.'
