Jamie Fraser, MD, PhD
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neurometabolism.bsky.social
Jamie Fraser, MD, PhD
@neurometabolism.bsky.social
1.4K followers 1.1K following 41 posts
Clinical-Translational Physician-Scientist 🧫🐭🔬🧬🧠 MSTP trained, Fmr NIH fellow in #MedicalGenetics
Researching #Rare Disease, #Neuroscience
#LCC #LabruneSyndrome
#MPAN #Leukodystrophy

#WomenInSTEM #WomenInMedicine
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neurometabolism.bsky.social
With the federal government shutdown, NIH research is paused, but so are their comms offices. The hard work to treat this #raredisease was done by #NIH researchers & paid for by federal tax dollars. Now, there’s excellent data to support FDA approval!
www.nih.gov/news-events/...
- The CALIBRATE study of encaleret for patients with ADH1 met all pre-specified primary and key secondary efficacy endpoints - The primary endpoint was met with 76% of participants administered encaleret achieving both serum and urine calcium within the respective target ranges at Week 24 compared to 4% when on conventional therapy at Week 4 (p<0.0001) - In a key secondary analysis, 91% of participants administered encaleret achieved intact PTH above the lower limit of the reference range at Week 24 compared to 7% of participants when on conventional therapy at Week 4 (p<0.0001) - Encaleret was well-tolerated with no discontinuations related to study drug - NDA submission planned in the first half of 2026 to support full approval - BridgeBio plans to initiate registrational studies of encaleret in chronic hypoparathyroidism and pediatric ADH1 in 2026
October 29, 2025 at 1:03 PM
neurometabolism.bsky.social
Updating BlueSky with some recent 🧬🧠🧪 wins! 🧵in progress…

doi.org/10.1212/WNL....
Photo of the title and abstract of a manuscript published in the journal Neurology entitled “Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency”. The post contains a link to the article with the abstract accessible.
November 12, 2024 at 11:44 AM