Rare Disease Report

Big news in #RareDisease this morning! The US FDA has approved mavorixafor (XOLREMDI; @X4Pharma) as the first agent with an indication for patients with WHIM syndrome 12 years or older based on data from the 4WHIM trial. Learn more on @HCPLiveNews: hcplive.com/view/fda-appro…

That is it from us for #RareDiseaseDay2024! Thank you to all those who acknowledged the day and an even bigger thank you to all those pushing the field into the future! hcplive.com/clinical/rare-…

In August 2023: The US FDA approved pozelimab-bbfg (Veopoz) for the treatment of adult and pediatric patients 1 year of age and older with CHAPLE disease—the first therapy to receive such an indication. hcplive.com/view/fda-appro… #RareDiseaseDay #RareDisea

Gina Choi, MD, A hepatologist from UCLA, breaks down the unmet need and potential for improvement within the management of autoimmune hepatitis. hcplive.com/view/autoimmun… #RareDiseaseDay #RareDiseaseDay2024

In this interview: Safer, a patient with primary sclerosing cholangitis, discusses how symptoms and quality of life often go unaddressed in clinician-patient interactions. hcplive.com/view/what-clin… #RareDiseaseDay #RareDiseaseDay2024

From our This Year in Medicine series: @DrCaliff_FDA joins @HCPLiveNews to share perspectives on many topics, including gene and cell therapy development for rare diseases. Learn more: hcplive.com/view/reviewing… #RareDiseaseDay #RareDiseaseDay2024

From #ASH2023: Phase 3 data show etranacogene dezaparvovec (EtranaDez), a gene therapy from Hemgenix, significantly reduced annualized bleeding rates and the number of total bleeds in hemophilia B. hcplive.com/view/etranacog… #RareDiseaseDay #RareDiseaseDay2024 @CGT_Live

From October 2023: The US FDA approved an sNDA for vosoritide (VOXZOGO) to increase linear growth in pediatric patients ≤5 years of age with achondroplasia. hcplive.com/view/fda-appro… #RareDiseaseDay2024 #RareDiseaseDay

Algaille syndrome represents a difficult-to-treat #RareDisease in hepatology. In late 2023, data from the odevixibat program suggests the IBAT inhibitor could provide significant benefit for these patients. hcplive.com/view/odevixiba… #RareDiseaseDay2024

In January, @alkeuspharma announced positive interim data from the TEASE-3 clinical trial showing gildeuretinol slows the progression of Stargardt Disease, a rare ophthalmic disorder, for up to 6 years. hcplive.com/view/michael-g… #RareDiseaseDay

In the last 12 months, the management of #IgANephropathy has undergone seismic change, with the first agent (oral budesonide; Tarpeyo) receiving full approval in late 2023. Learn more about the space and ongoing development in our #IgAN resource center: hcplive.com/clinical/berge…

Today is #RareDiseaseDay2024! All day we are highlighting the most popular coverage this year from @HCPLiveNews! To kick off the day, here's a clip where @MasriAhmadMD calls attention to the need for reform in developing therapies for #RareDisease. hcplive.com/view/experts-p…

A #RareDisease win last night: The FDA has approved nirogacestat tablets (Ogsiveo) to treat progressing, painful desmoid tumors. Learn more about the systemic drug here: hcplive.com/view/fda-appro… @HCPLiveNews $SWTX

A year of research emphasizes the significance of collaboration, standardized approaches, and targeted therapies in rare pulmonary diseases. ow.ly/qIBr50Pmehl

The latest feature in The Unreached series delves into integrative care with expert perspectives from @GuyYoungMD, @DrTitiFasipe, and more. Read here: ow.ly/pOFQ50Pc49O @TexasChildrens @ChildrensLA @Nemours @SCDAAorg @GiulianaGrossi #integrativemedicine #chornicdisease

Individuals seeking contraception will be able to access norgestrel without consulting a health care provider, reducing barriers to contraception access. ow.ly/ra7950PaEzC #FDA #birthcontrol

Efanesoctocog alfa demonstrates promising results in new phase 3 data emphasizing the drug's potential to address unmet needs within the hemophilia community. ow.ly/FipW50P6YTk #ISTH2023 @isth #raredisease

Psychological factors also come into play, as patients may have varying appetites for risk and preferences for treatment regimens, Dr. Guy Young explains in an interview with @GiulianaGrossi ow.ly/721P50P6Xl9 @GuyYoungMD @ChildrensLA #hemophilia #genetherapy #prophylaxis

The American Indian/Alaska Native population showed the largest increase in maternal mortality ratios rising from 14-49.2, while the Black population consistently had the highest median state ratios, increasing from 26.7-55.4 ow.ly/V7t950P2O7o #FetalMedicine #Womenshealth

"Hemlibra is currently the only approved medicine for people with hemophilia A with or without factor VIII inhibitors that can be self-administered subcutaneously once weekly, every 2 weeks, or every 4 weeks," Dr. Juliana Biondo explains. ow.ly/hsXO50P28Oo #hemophilia #FDA