Magnitude Biosciences Ltd’s Post

Our team at GeneDx has worked SO hard to launch this exciting new program for patients, clinicians, and biopharma partners, and I'm honored to be involved in an initiative that increases access to Whole Exome Sequencing (#WES) for pediatric #epilepsy patients. I'd love to chat if you want more information! #raredisease #drugdiscovery #exome #genetictesting

Time is brain. Time is muscle. The list goes on. The goal of this #epilepsy Patient Access Program is to get the right test to the right patients at the right time. #GeneDx #DEE #GeneticTesting #WES #Exome #RareDisease #DrugDevelopment #ChildNeurologyFoundation #Dravet #LennoxGastaut

🚀 Let's accelerate pediatric drug development together! FDA Announces Public Workshop on Advancing the Development of Pediatric Therapeutics. This is exciting news from the FDA regarding the advancement of pediatric therapeutics. Let's work towards decreasing the approval time for pediatric drugs and ensuring all demographic groups are represented in clinical studies. ADEPT-9: Enhancing Diversity in Therapeutics Development for Pediatric Patients, on Friday, September 6, 2024.   The purpose is to solicit input from stakeholders on increasing the enrollment of historically underrepresented populations in pediatric clinical studies, and encouraging pediatric clinical study participation that reflects the prevalence of the other disease or condition among demographic subgroups, where appropriate, and other topics.  https://lnkd.in/evUHZGPt #pediatricdiversity #childrencantwait hashtag#pediatricdiversity hashtag#pediatric hashtag#childrencantwait

👍 𝐅𝐃𝐀 𝐠𝐫𝐚𝐧𝐭𝐬 𝐚𝐜𝐜𝐞𝐥𝐞𝐫𝐚𝐭𝐞𝐝 𝐚𝐩𝐩𝐫𝐨𝐯𝐚𝐥 𝐭𝐨 𝐭𝐨𝐯𝐨𝐫𝐚𝐟𝐞𝐧𝐢𝐛 𝐩𝐚𝐭𝐢𝐞𝐧𝐭𝐬 6 𝐦𝐨𝐧𝐭𝐡𝐬 𝐨𝐟 𝐚𝐠𝐞 𝐚𝐧𝐝 𝐨𝐥𝐝𝐞𝐫 𝐰𝐢𝐭𝐡 𝐫𝐞𝐥𝐚𝐩𝐬𝐞𝐝 𝐨𝐫 𝐫𝐞𝐟𝐫𝐚𝐜𝐭𝐨𝐫𝐲 𝐁𝐑𝐀𝐅-𝐚𝐥𝐭𝐞𝐫𝐞𝐝 𝐩𝐞𝐝𝐢𝐚𝐭𝐫𝐢𝐜 𝐥𝐨𝐰-𝐠𝐫𝐚𝐝𝐞 𝐠𝐥𝐢𝐨𝐦𝐚. This represents the first FDA approval of a systemic therapy for the treatment of pediatric patients with relapsed or refractory pediatric low-grade glioma (LGG) harboring a BRAF fusion or rearrangement, or BRAF V600 mutation. This application was granted priority review, breakthrough designation and orphan drug designation. 👶 Pediatric patients often have limited treatment options, so expedited drug development can make a huge difference in their lives. By receiving priority review, these pediatric patients can access potentially life-saving treatments much faster than before: 𝑩𝒆𝒄𝒂𝒖𝒔𝒆 𝑪𝒉𝒊𝒍𝒅𝒓𝒆𝒏 𝑪𝒂𝒏'𝒕 𝑾𝒂𝒊𝒕! https://lnkd.in/eQPak_N9 #childrencantwait #pediatricclinicaltrials

Homozygous familial hypercholesterolemia is a rare and devastating disease. There is tremendous therapy gap for pediatric patients. Here we publish our pooled data from evolocumab a monoclonal PCSK9 inhibitor in those patients. There was great variability on LDL-C lowering response, but at least 43% reduced it >15% a as recommended in guidelines. Drug safety and tolerability were very good! Thanks Amgen for the opportunity to work on this. https://lnkd.in/d_Qt8acp #prevention #cardiovascular #cholesterol #FH. Instituto do Coração - InCor HCFMUSP, FMUSP Oficial, Hospital Albert Einstein, FH Europe Foundation, Family Heart Foundation

Lutetium Lu 177 Dotate has been approved by the FDA for treatment of pediatric patients aged 12 years and above. According to Dr. Anish K. Shah, "The approval was based on the pharmacokinetic (PK), dosimetry, and safety data frombNETTER-P, an ongoing, international, multi-center, open-label, single-arm study ofblutetium Lu 177 dotatate in adolescent patients with locally advanced/inoperable or metastatic SSTR-positive GEP-NETs." Read to learn more about this option for #pediatriccancerpatients ⬇ https://lnkd.in/gMfHE6Sv

🚀 BioMarin Pharmaceutical Inc. Receives Expanded FDA Approval for Brineura to Treat CLN2 Disease in Children 🚀 We are thrilled to announce that BioMarin Pharmaceutical Inc. Has secured expanded FDA approval for Brineura (cerliponase alfa) to treat neuronal ceroid lipofuscinosis type 2 (CLN2 disease) in children of all ages. About Brineura: Brineura is an enzyme replacement therapy designed to treat CLN2 disease, also known as Batten disease. It is a recombinant form of human tripeptidyl peptidase 1 (TPP1), addressing the enzyme deficiency in children with CLN2. Originally approved in 2017 for symptomatic children aged 3 years and older, Brineura’s indication now includes children of all ages, whether symptomatic or presymptomatic. Significance of the Expanded Approval: Hank Fuchs, President of Worldwide Research and Development at BioMarin Pharmaceutical Inc., stated, “Today’s approval represents a significant step forward in enabling children to be treated with Brineura as early as possible when we can have the greatest impact in altering the natural course of disease.” Key Findings from the Phase 2 Study (Study 190-203): The open-label, multi-centre clinical trial evaluated Brineura over nearly three years in children aged 1-6 years, including those under three. Results showed that Brineura slowed the decline in motor function and delayed disease onset. The safety profile in younger children was consistent with known data, highlighting its well-characterized safety. Implications for Families and Future Diagnoses: Ineka Whiteman, Head of Research and Medical Affairs at the BDSRA Foundation, emphasized the positive impact, saying, “The opportunity to start Brineura treatment earlier, even before the onset of symptoms, provides newfound hope for families impacted by this rapidly progressive disease.” The expanded approval underscores the importance of early diagnosis and supports advocacy efforts for including CLN2 disease on the Recommended Uniform Screening Panel (RUSP) for newborn screening. We celebrate this milestone and the potential it holds for improving the lives of children and families affected by CLN2 disease. #BioMarin #Brineura #FDAApproval #BattenDisease #CLN2Disease #RareDisease #PediatricHealth #MedicalInnovation #EnzymeReplacementTherapy

📢 *Transitioning your trials to CTR/CTIS* 👇 By 30 January 2025, any ongoing trials approved under the Clinical Trials Directive (CTD) will fall under the CTR. Therefore, any ongoing trials will need to be transitioned to CTIS and approved by 30 January 2025. Optimapharm is offering regulatory support to help Sponsors transitioning their ongoing studies. We are offering it also as a stand-alone service. If you need to transition or have doubts about if this is applicable to your studies, don't hesitate to send us an inquiry. ‼ Sponsors have submitted around 580 transitional trials to CTIS, out of an estimated total of *5,000 trials* that need to be transitioned ‼ Our Tip 💡 don't leave this for the 4Q of 2024, the sooner you approach the transition in 2024, the better. Would you like to know more about? Are you interested in pricing and timelines? do not hesitate to DM me or send a request to 📩 https://lnkd.in/dAEh6umz. #ema #clinicaltrials #clinicalresearch #clinicaltrial #clinicaldevelopment #innovation #research #ctis #ctr #europeanunion #clinicalstudy #oncology #oncologyresearch #trials #cro #studies #eu #neurology #endocrinology #respiratory #infectiousdiseases #patients #patientsfirst #clinicalsupport #medicine #science #raredisease #ophthalmology #medicaldevices #medicaldevice #medicalaffairs #regulatoryaffairs #regulatorycompliance #regulatorysubmissions #regulation #cardiology #transition #allergy #hematology #cns Image Source: https://www.ema.europa.eu/ European Medicines Agency

The loss of power in clinical trials that use unequal treatment and control groups is under-appreciated. Before you gloss-over when looking at the equation below here just focus on the red P and the green N.     Let’s take the example of Zelsuvmi I looked at yesterday. https://lnkd.in/e9YjP5Jc Novan, Inc.'s Trial 2 just-missed significance. I noted that “For some reason they chose to use half the number of controls and may have screwed themselves out of a significant finding.” The rationale for a 2:1 split varies. Sometimes it’s a motivator to get people to join the clinical trials: “We have a promising therapy for your child’s molluscum contagiosum. It’s already been shown to be safe. Would you care to join a clinical trial where your blemished darling daughter has an even chance of getting the treatment? No? What if she had a 2:1 chance of getting the treatment?” These uneven splits have become more common in oncology trials. https://lnkd.in/eyTC59GB But this is known to reduce the power of the outcome. https://lnkd.in/eYH82uFW and see https://lnkd.in/eBbxY4Kw The minimal detectable effect (MDE) is the minimum effect in the treatment group that has to exist if we are going to have a hope of finding a difference from the control group. This value changes not only in relation to the total number of participants (as N increases it divides the effect of the variance more) but also in relation to how those participants are split into treatment and control groups. Look at the red P in the equation. This is the proportion in one group and 1-P is the proportion in the other group. If the split is 50% to 50%, then 1/[P x (1 – P)] is 4. But if the split is 2:1 (67% to 33%), then this value is 4.5. So, the MDE goes up by a factor of 6% (i.e., sqrt (4.5) / sqrt (4) = 1.06 ) demanding a larger effect. A more fulsome treatment is here https://lnkd.in/eBgBYUAf If we look at the Zelsuvmi Trial 2, with 355 participants, the MDE for their 2:1 split would have been 31.3% and they didn’t get there with 30%. Had the trial been evenly split with exactly the same number of participants, the MDE would have been 29.7%, and they did exceed that.   Not only would they have exceeded the MDE using an even split, the 10% difference between treatment and control groups also would have been significant (p-value = 0.04). Mind you, if these differences in sample size and group proportions will effect the outcome by being marginally worse or better than 0.05, it begs the question as to whether the dogmatic reliance on alpha=0.05 has much more than arbitrary meaning.   #pvalues #clinicaltrials #rct #statisticalpower  

In light of Carie Pierce's efforts to shed light on significant issues within medical research, it's imperative we address the recent event where Pfizer had to terminate a Phase III sickle cell disease trial due to challenges in study enrollment. This situation is a stark reminder of the complexities involved in medical advancements, highlighting a pivotal area where organizations like The Beautiful Way Foundation can play a transformative role. The termination of such a crucial trial underscores not just the need for heightened awareness and support for sickle cell disease but also signals a call to action for organizations and foundations to bolster their efforts in facilitating medical research. The Beautiful Way Foundation, a burgeoning organization new to the health sector, promises to become a beacon of hope in these challenging times with its commitment to making a significant difference. It's through concerted efforts and increased backing from such entities that we can overcome barriers to research and trial enrollments, ensuring that promising therapies reach those in need without undue delay. We invite you to explore The Beautiful Way Foundation's page to understand our mission and follow us for updates. Join us in championing healthcare advancement by learning more about our vision and how you can be part of this transformative journey. Together, we can build a future where no trial fails due to lack of participation, and every potential cure gets its chance to make an impact. https://lnkd.in/e-uxM6SM