Latest news with #spinalmuscularatrophy
Medscape
4 days ago
- Health
- Medscape
Start Spinal Muscular Atrophy Treatment at Birth?
Oral risdiplam (Evrysdi, Genentech) started in the first 6 weeks of life let most infants with presymptomatic spinal muscular atrophy (SMA) reach motor milestones typical of healthy babies, results of the RAINBOWFISH study showed. Infants treated before the development of clinical signs or symptoms of SMA had better functional and survival outcomes at 12 and 24 months than untreated infants in natural history studies. 'The impact of giving risdiplam soon after birth is quite dramatic. By age 2, we saw most of the children who we had treated were walking and in good general health,' Richard Finkel, MD, director of the experimental neuroscience program, St. Jude Children's Research Hospital, Memphis, Tennessee, said in a news release. The study was published online on August 13 in The New England Journal of Medicine . Altering Disease Trajectory SMA is a rare and often fatal genetic disease that causes progressive muscle weakness. It affects about 1 in 10,000 babies and is caused by a mutation in the survival motor neuron 1 ( SMN1 ) gene, which encodes the SMN protein, critical for the maintenance and function of motor neurons. Risdiplam is an orally administered, centrally and peripherally distributed small molecule that increases production of the SMN protein. As reported by Medscape Medical News , the FDA first approved oral risdiplam in 2020 for SMA in children older than 2 years. A label extension was approved 2 years later to include presymptomatic infants younger than 2 months with SMA, based on data from RAINBOWFISH. This new open-label study enrolled infants with genetically diagnosed SMA but no strongly suggestive clinical signs or symptoms. All infants were started on daily oral risdiplam (with the dose adjusted to 0.2 mg/kg of body weight) as early as 16 days of age. Of the eight children genetically predisposed to the most severe form of SMA, type 1, seven were able to sit at 12 months and five were able to walk by 24 months. Of the 18 children with three or more copies of the SMN2 gene (predicting less severe disease), all could sit by 12 months and walk by 24 months, with most reaching these milestones in timeframes comparable to those in children without SMA. The beneficial effects of risdiplam were evident across the spectrum of patients treated, but infants with higher SMN2 copy numbers and baseline ulnar compound muscle action potential (CMAP) amplitudes appeared to have more favorable responses, the researchers noted. All 23 infants who completed the 24-month assessment were alive without any respiratory support, and all maintained swallowing and oral feeding abilities. None of the children experienced any major treatment-related adverse events from daily risdiplam treatment. Early Treatment Critical 'For families facing a diagnosis of SMA, the results of this study offer real hope. Treating children before symptoms appear — when they are still developing normally — can change the entire trajectory of the disease. We are no longer just managing symptoms; we are preserving strength, function and quality of life from the very start,' study investigator Aledie Navas, MD, with Nemours Children's Hospital, Orlando, Florida, said in the release. The researchers are now testing the safety and efficacy of giving risdiplam prenatally, with promising early results reported earlier this year. In a linked editorial in The New England Journal of the Medicine , Charlotte Sumner, MD, with the Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, noted that risdiplam is one of three approved SMN-inducing treatments for SMA. The other two treatments are nusinersen, the intrathecally administered, splice-switching antisense oligonucleotide, and onasemnogene abeparvovec, the adeno-associated virus 9 gene-transfer therapy. 'All three drugs are substantially more effective when started before symptom onset, which has prompted neonatal screening programs for SMA in many countries to hasten treatment initiation,' Sumner pointed out. 'Sufficiently early SMA treatment probably not only halts irreversible neurodegeneration but also facilitates normal motor-neuron and muscle development,' Sumner noted.
Yahoo
06-08-2025
- Business
- Yahoo
Scholar Rock Reports Second Quarter 2025 Financial Results and Highlights Business Progress
FDA accepted the apitegromab BLA under priority review with a PDUFA target action of September 22, 2025; finalizing U.S. commercial launch preparations European Medicines Agency validated Marketing Authorisation Application (MAA), and regulatory process continues to progress; European launch anticipated in 2026 Positive topline results from Phase 2 EMBRAZE proof-of-concept trial in adult patients with obesity showed statistically significant preservation of lean mass with apitegromab during tirzepatide-induced weight loss Cash, cash equivalents and marketable securities of $295 million as of June 30, 2025; expected to support commercial and development programs into 2027 Management to host update call today at 8:00 a.m. ET CAMBRIDGE, Mass., August 06, 2025--(BUSINESS WIRE)--August 6, 2025-- Scholar Rock (NASDAQ: SRRK), a late-stage biopharmaceutical company focused on developing and commercializing apitegromab for patients with spinal muscular atrophy (SMA) and other severe and debilitating neuromuscular diseases, today reported financial results and updates for the second quarter ended June 30, 2025. "Our BLA is progressing under priority review towards our September 22 PDUFA date, and our team is working with urgency to prepare to serve children and adults living with spinal muscular atrophy," said David L. Hallal, Chairman and Chief Executive Officer of Scholar Rock. "If approved, apitegromab will be a first-in-class muscle-targeted therapy with the potential to establish a new standard of care in the treatment for SMA. As we prepare for a successful commercial launch in the U.S., we are continuing to advance our MAA in the EU in parallel, while also planning for extensive global expansion to serve the SMA community with apitegromab worldwide." Mr. Hallal added, "In addition, we were pleased to share positive EMBRAZE topline results highlighting the broader potential of our highly selective myostatin inhibition approach to support healthier weight loss by safely preserving lean mass. These results demonstrate the promise of our highly innovative myostatin platform to deliver potentially life-transforming benefits." Company Highlights and Upcoming Milestones Spinal Muscular Atrophy (SMA) Program Apitegromab is an investigational fully human monoclonal antibody inhibiting myostatin activation by selectively binding the pro- and latent forms of myostatin in skeletal muscle. It is the first muscle-targeted therapeutic candidate in spinal muscular atrophy (SMA) to demonstrate clinical success in a pivotal phase 3 (SAPPHIRE) clinical trial. September 22 PDUFA date. The FDA has accepted the Biologics License Application (BLA) for apitegromab under priority review and has assigned a Prescription Drug User Fee Act (PDUFA) target action date for apitegromab of September 22, 2025. In anticipation of potential regulatory approvals, Scholar Rock is planning for a U.S. commercial launch upon approval in 2025. Continuing to finalize key launch preparations. U.S. customer-facing teams have been hired and deployed in the field and U.S. commercial launch preparation is progressing across the country. Received validation for the Marketing Authorisation Application (MAA) from the European Medicines Agency (EMA). European launch of apitegromab is anticipated in 2026 upon approval. Scholar Rock is actively progressing launch preparedness in Germany for its first European market. Disease awareness and market access initiatives are underway across additional key European markets. Presented positive Phase 3 SAPPHIRE clinical trial data at the 2025 Annual Cure SMA Research and Clinical Care Meeting in June. Expect to initiate the Phase 2 OPAL clinical trial in SMA in Q3 2025. The trial will evaluate apitegromab in infants and toddlers with SMA under two years of age who have been or are continuing to be treated with any currently approved SMN-targeted therapy. Apitegromab in Additional Rare, Severe and Debilitating Neuromuscular Disorders Expanding development of apitegromab in additional rare, severe and debilitating neuromuscular disorders. Building on the positive Phase 3 SAPPHIRE trial in SMA, the Company is exploring the development of apitegromab in neuromuscular conditions characterized by progressive muscle degeneration leading to loss of mobility, activities of daily living, and independence, as part of its efforts to be a leading neuromuscular disease company. These disorders include Duchenne muscular dystrophy (DMD) and Facioscapulohumeral muscular dystrophy (FSHD), and others. Cardiometabolic Program Reported positive topline data from the Phase 2 EMBRAZE proof-of-concept trial in obesity demonstrating statistically significant preservation of lean mass with apitegromab during tirzepatide-induced weight loss. The trial demonstrated that 30% of total weight loss with tirzepatide alone was due to lean mass loss. Patients receiving apitegromab dosed at 10 mg/kg with tirzepatide over 24 weeks preserved an additional 4.2 pounds (1.9 kilograms) or 54.9% (p=0.001) of lean mass compared to tirzepatide alone, leading to higher quality weight loss. Apitegromab with tirzepatide was generally well tolerated by participants. The EMBRAZE results highlight the potential for the Company's highly innovative approach to myostatin inhibition to be important in the development of therapies for patients with obesity and support the opportunity to advance earlier-stage anti-myostatin research assets through collaboration with leading cardiometabolic-focused partners. Advancing Our Portfolio of Highly Innovative and Selective Latent Myostatin Inhibitors SRK-439 is a novel, investigational, preclinical myostatin inhibitor for subcutaneous administration that binds to pro- and latent myostatin with high affinity and is selective for myostatin (i.e., no GDF11 or Activin A binding). Based on preclinical data, SRK-439 has the potential to potently inhibit myostatin and increase muscle mass and is being developed for the treatment of rare, severe neuromuscular diseases. Scholar Rock remains on track to file an IND application for SRK-439 to support the first in human study in the second half of 2025. Second Quarter 2025 Financial Results For the quarter ended June 30, 2025, net loss was $110 million or $0.98 per share compared to a net loss of $58.5 million or $0.60 per share for the quarter ended June 30, 2024. The Company did not record any revenue for the quarter ended June 30, 2025 or for the quarter ended June 30, 2024. Research and development expense was $62.4 million for the quarter ended June 30, 2025, compared to $42.4 million for the quarter ended June 30, 2024. The increase of $20.0 million was primarily due to an increase in external research and development costs of $11.0 million largely due to drug supply manufacturing costs, an increase in employee related expenses of $6.3 million, of which $2.7 million are related to one-time leadership transition costs, and an increase in stock-based compensation expense of $1.8 million. General and administrative expense was $49.7 million for the quarter ended June 30, 2025, compared to $17.1 million for the quarter ended June 30, 2024. The increase of $32.6 million was primarily due to an increase in stock-based compensation expense of $13.3 million, of which $8.6 million is related to one-time leadership transition costs, and an increase in employee related expenses of $10.0 million, of which $4.4 million are one-time leadership transition costs. In addition, professional services fees increased by $8.8 million as we continue to build the infrastructure for launch readiness. As of June 30, 2025, Scholar Rock had cash, cash equivalents, and marketable securities of approximately $295 million, which along with cash available to the Company and planned revenues, is expected to fund the anticipated operating and capital expenditure requirements into 2027. Conference Call Information Management will provide an update on the Company and discuss second quarter 2025 results via conference call on Wednesday, August 6 at 8:00 am ET. To access the live conference call, participants may register here. The live audio webcast of the call will be available under "Events and Presentations" in the Investor Relations section of the Scholar Rock website at To participate via telephone, please join by dialing 800-715-9871 (domestic) or 646-307-1963 (international) and referencing the conference ID 3205013. An archived replay of the webcast will be available on the Company's website for approximately 90 days. About Scholar Rock Scholar Rock (NASDAQ: SRRK), a late-stage biopharmaceutical company focused on developing and commercializing apitegromab for patients with spinal muscular atrophy (SMA) and other severe and debilitating neuromuscular diseases. As a global leader in the biology of the transforming growth factor beta (TGFβ) superfamily, the company is named for the visual resemblance of protein structures to scholar rocks. Over the past decade, Scholar Rock has created a pipeline with the potential to advance the standard of care for neuromuscular disease, cardiometabolic disorders, cancer, and other conditions where growth factor-targeted drugs can play a transformational role. This commitment to unlocking fundamentally different therapeutic approaches is powered by broad application of a proprietary platform, which has developed novel monoclonal antibodies to modulate protein growth factors with extraordinary selectivity. By harnessing cutting-edge science in disease spaces that are historically under-addressed through traditional therapies, Scholar Rock works every day to create new possibilities for patients. Learn more about our approach at and follow @ScholarRock on LinkedIn. Scholar Rock® is a registered trademark of Scholar Rock, Inc. Availability of Other Information About Scholar Rock Investors and others should note that we communicate with our investors and the public using our company website including, but not limited to, company disclosures, investor presentations and FAQs, Securities and Exchange Commission filings, press releases, public conference call transcripts and webcast transcripts, as well as on X (formerly known as Twitter) and LinkedIn. The information that we post on our website or on X (formerly known as Twitter) or LinkedIn could be deemed to be material information. As a result, we encourage investors, the media and others interested to review the information that we post there on a regular basis. The contents of our website or social media shall not be deemed incorporated by reference in any filing under the Securities Act of 1933, as amended. Forward-Looking Statements This press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995, including, but not limited to, statements regarding Scholar Rock's future expectations, plans and prospects, including without limitation, Scholar Rock's expectations regarding its growth, strategy, progress and timing of its clinical trials for apitegromab and its preclinical programs, including SRK-439, and indication selection and development timing, including the timing of any regulatory submissions and anticipated approvals, the therapeutic potential, clinical benefits and safety of any product candidates, its cash runway, expectations regarding commercial launch timing and the achievement of important milestones, the ability of any product candidate to perform in humans in a manner consistent with earlier nonclinical, preclinical or clinical trial data, and the potential of its product candidates and proprietary platform. The use of words such as "may," "might," "could," "will," "should," "expect," "plan," "anticipate," "believe," "estimate," "project," "intend," "future," "potential," or "continue," and other similar expressions are intended to identify such forward-looking statements. All such forward-looking statements are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in or implied by such forward-looking statements. These risks and uncertainties include, without limitation, whether preclinical and clinical data, including the results from the Phase 3 SAPPHIRE trial, will be sufficient to support regulatory approval, that the full results from the Phase 3 SAPPHIRE trial may differ from the topline data; that preclinical and clinical data, including the results from the Phase 2 or Phase 3 clinical trial of apitegromab, or Part A or Part B of the Phase 1 clinical trial of SRK-181, are not predictive of, may be inconsistent with, or more favorable than, data generated from future or ongoing clinical trials of the same product candidates; Scholar Rock's ability to manage expenses or provide the financial support, resources and expertise necessary to identify and develop product candidates on the expected timeline; information provided or decisions made by regulatory authorities; competition from third parties that are developing products for similar uses; Scholar Rock's ability to obtain, maintain and protect its intellectual property; and Scholar Rock's dependence on third parties for development and manufacture of product candidates including, without limitation, to supply any clinical trials as well as those risks more fully discussed in the section entitled "Risk Factors" in Scholar Rock's Quarterly Report on Form 10-Q for the quarter ended June 30, 2025, as well as discussions of potential risks, uncertainties, and other important factors in Scholar Rock's subsequent filings with the Securities and Exchange Commission. Any forward-looking statements represent Scholar Rock's views only as of today and should not be relied upon as representing its views as of any subsequent date. All information in this press release is as of the date of the release, and Scholar Rock undertakes no duty to update this information unless required by law. Scholar Rock Holding Corporation Condensed Consolidated Statements of Operations (unaudited) (in thousands, except share and per share data) Three Months Ended June 30, Six Months Ended June 30, 2025 2024 2025 2024 Operating expenses Research and development $ 62,401 $ 42,373 $ 111,079 $ 85,466 General and administrative 49,708 17,125 78,120 32,451 Total operating expenses 112,109 59,498 189,199 117,917 Loss from operations (112,109 ) (59,498 ) (189,199 ) (117,917 ) Other income (expense), net 2,078 990 4,445 2,556 Net loss $ (110,031 ) $ (58,508 ) $ (184,754 ) $ (115,361 ) Net loss per share, basic and diluted $ (0.98 ) $ (0.60 ) $ (1.65 ) $ (1.20 ) Weighted average common shares outstanding, basic and diluted 112,703,014 96,813,116 112,273,032 96,352,858 Scholar Rock Holding Corporation Condensed Consolidated Balance Sheets (unaudited) (in thousands) June 30, 2025 December 31, 2024 Assets Cash, cash equivalents and marketable securities $ 295,013 $ 437,278 Other current assets 24,113 13,887 Total current assets 319,126 451,165 Other assets 20,919 23,757 Total assets $ 340,045 $ 474,922 Liabilities and Stockholders' Equity Current liabilities $ 50,435 $ 46,936 Long-term liabilities 56,317 59,352 Total liabilities 106,752 106,288 Total stockholders' equity 233,293 368,634 Total liabilities and stockholders' equity $ 340,045 $ 474,922 View source version on Contacts Scholar Rock:InvestorsRushmie NofsingerScholar Rockir@ 857-259-5573MediaMolly MacLeodmedia@ 802-579-5995
Globe and Mail
21-07-2025
- Business
- Globe and Mail
Scholar Rock to Host Conference Call to Discuss Second Quarter 2025 Financial Results and Provide Business Update on August 6, 2025
Scholar Rock (NASDAQ: SRRK), a late-stage biopharmaceutical company focused on developing and commercializing apitegromab for patients with spinal muscular atrophy (SMA) and other severe and debilitating neuromuscular diseases, today announced that management will host a conference call to discuss its second quarter 2025 financial results and provide a business update on Wednesday, August 6, 2025, at 8:00am ET. To access the live conference call, participants may register here. The live audio webcast of the call will be available under 'Events and Presentations' in the Investor Relations section of the Scholar Rock website at To participate via telephone, please join by dialing 800-715-9871 (domestic) or 646-307-1963 (international) and referencing the conference ID 3205013. An archived replay of the webcast will be available on the Company's website for approximately 90 days. About Scholar Rock Scholar Rock is a biopharmaceutical company that discovers, develops, and delivers life-changing therapies for people with serious diseases that have high unmet need. As a global leader in the biology of the transforming growth factor beta (TGFβ) superfamily, the company is named for the visual resemblance of a scholar rock to protein structures. Over the past decade, Scholar Rock has created a pipeline with the potential to advance the standard of care for neuromuscular disease, cardiometabolic disorders, cancer, and other conditions where growth factor-targeted drugs can play a transformational role. This commitment to unlocking fundamentally different therapeutic approaches is powered by broad application of a proprietary platform, which has developed novel monoclonal antibodies to modulate protein growth factors with extraordinary selectivity. By harnessing cutting-edge science in disease spaces that are historically under-addressed through traditional therapies, Scholar Rock works every day to create new possibilities for patients. Learn more about our approach at and follow @ScholarRock on LinkedIn. Scholar Rock ® is a registered trademark of Scholar Rock, Inc. Availability of Other Information About Scholar Rock Investors and others should note that we communicate with our investors and the public using our company website including, but not limited to, company disclosures, investor presentations and FAQs, Securities and Exchange Commission filings, press releases, public conference call transcripts and webcast transcripts, as well as on X (formerly known as Twitter) and LinkedIn. The information that we post on our website or on X (formerly known as Twitter) or LinkedIn could be deemed to be material information. As a result, we encourage investors, the media and others interested to review the information that we post there on a regular basis. The contents of our website or social media shall not be deemed incorporated by reference in any filing under the Securities Act of 1933, as amended.
Sky News
20-07-2025
- Health
- Sky News
Mother of baby with spinal muscular atrophy wants all newborns to be tested for it
The mother of baby boy, who had 22 medical appointments with nine different doctors before being diagnosed with a rare genetic condition, wants all newborns to be tested for it. Chester was eight months old when his parents were finally told the condition that meant he couldn't swallow or move his legs and left him constantly distressed was spinal muscular atrophy, or SMA. But it's a delay that will have a lifelong impact. "He still can't hold his head up," said his mum, Kasey Mumford. "If he'd been diagnosed by the heel prick test at like three or five days old, he could have started medication straight away, because there's a treatment for it, there are three different types of treatment, but there's no cure. He will never not have this." Chester is nearly one now, but needs a ventilator at night to breathe. But SMA isn't one of the 10 rare illnesses that newborn babies are currently tested for in the UK, unlike in the US and much of Europe. Dr Vasantha Gowda, a consultant paediatric neurologist at London's St Thomas' Hospital, says clinicians from other countries are "all shocked that we don't have newborn screening for SMA". "If we treat these children early, there is a possibility that… they would walk, run, climb, play. They would not need any support for breathing. They would need no support for feeding," she said. "We know there's a potential to deliver this if the condition is picked up at the earliest possible stage." SMA causes irreversible loss of motor neurons, which affects muscle function. Nine out of 10 will either die before they're two or rely on a ventilator for life. And when 2,000 parents were surveyed recently, 90% said they'd want to know as soon as possible if their child had SMA. Four in every five wanted screening implemented immediately, and the same proportion considered the £5 cost per test good value. The lack of testing for the condition is, according to the chief executive of the charity SMA UK, "unethical". "The new 10-year NHS plan has highlighted that prevention is a key pillar," said Giles Lomax. "Newborn screening for SMA is essentially a very quick and easy win to align to that pillar. "We've got the treatments there, we've got pathways, we have the expertise, we could make prevention for SMA a thing right now." New therapies have been developed since SMA was last considered for inclusion, and in 2023, the UK National Screening Committee agreed to review the decision. A large-scale study is now under way and the different governments across the UK have said they'll be guidedby the advisory body's recommendations. But Chester's mum is clear that it must be included as "every single second counts" when it comes to receiving treatment. Instead, for Kasey and her partner, Dylan, there will always be that uncertainty about what might have been had their boy been diagnosed sooner.
The National
18-07-2025
- Health
- The National
Syrian girl receives life-saving treatment as Dubai Ruler covers Dh7 million cost
A young Syrian girl diagnosed with spinal muscular atrophy received Dh7 million gene therapy paid for by Sheikh Mohammed bin Rashid, Vice President and Ruler of Dubai, on Friday at the emirate's Al Jalila Children's Speciality Hospital. Holding a small giraffe toy, and trying to smile, Yaqeen Kankar, sat in the treatment room on Friday morning waiting for the arrival of doctors and her medicine. Two weeks ago, the family made a video appeal on social media for help to save the two-year-old. The office of Sheikh Mohammed called the family saying the Ruler of Dubai would cover the Dh7 million ($1.9 million) cost of medical treatment. Yaqeen's uncle, Ibrahim Abdulaziz Faroj, told The National the family was relieved to know she could now have a normal life. 'We didn't sleep for three days after receiving the happy news that Sheikh Mohammed would cover the cost,' Mr Faroj, 23, said. 'It's a mix of feelings between joy, anticipation and anxiety. We want her to grow normally like any other child. Thanks to Dubai, the dream becomes true.' The uncle had posted a video holding Yaqeen, explaining her condition and asking for help with the cost of her treatment, which is available at only a few centres in the world. 'We know that she has no time. We didn't have other way than to plea for help as we couldn't afford the cost,' Mr Faroj said. Eight months before moving to Dubai, doctors in Syrian diagnosed Yaqeen with spinal muscular atrophy (SMA), a genetic disorder that weakens and wastes muscles. Her parents left no stone unturned seeking help. 'I was posting about her for several months until we received the happy call,' Mr Faroj said. 'It was the best gift ever. We all cried with joy when we heard the news. This action is not strange for the UAE and its rulers who always help people in desperate need.' Doctors gave Yaqeen only months to live without the expensive treatment. Dr Haitham Elbashir, paediatric neurorehabilitation consultant at Al Jalila Children's Hospital, told The National: 'We examined her a week ago and did all the laboratory tests. I'm very happy to say that the medicine is going to be delivered to her today.' Yaqeen underwent the one-hour procedure on Friday morning and will stay in the hospital for 24 hours. Then she can go with her parents to their home in Sharjah. Doctors said they were optimistic it would be successful, but it could take up to three months to see the final results. 'She will need to continue with us for three months because that's the treatment period where we need to follow her regularly,' said Dr Elbashir. Yaqeen was diagnosed with SMA type 2 when she was only six months old. 'Her condition is stable, but she's got some weakness and hopefully the treatment will help to get her better. I'm very optimistic,' said Dr Elbashir. SMA affects the motor neurons (nerve cells that transmit impulses to the muscles) and weakens the limbs. It makes walking difficult or impossible and creates problems with swallowing, as well as breathing. The treatment offered by Al Jalila Children's Hospital, called Zolgensma, is given once and is a form of gene therapy. It was approved by the US Food and Drug Administration four years ago and has been described as the most expensive drug in the world. The hospital has completed more than 100 treatments for patients with SMA, said Dr Mohamed Al Awadhi, executive director of the Dubai Health Women and Children's Campus.
