Rare Disease Report

Breaking news, patient stories & FDA updates within the rare disease community. Listen to our podcast: hosted by @GiulianaGrossi

[Rare Disease Report @RareDR]

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:
https://t.co/8m2hG45zNG

[Rare Disease Report @RareDR]

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!

https://t.co/D2UPzWsf8w

[Rare Disease Report @RareDR]

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.

https://t.co/abKWmi14G9

#RareDiseaseDay #RareDisea

[Rare Disease Report @RareDR]

Gina Choi, MD, A hepatologist from UCLA, breaks down the unmet need and potential for improvement within the management of autoimmune hepatitis.

https://t.co/1eTHpfN7t1

#RareDiseaseDay #RareDiseaseDay2024

[Rare Disease Report @RareDR]

In this interview: Safer, a patient with primary sclerosing cholangitis, discusses how symptoms and quality of life often go unaddressed in clinician-patient interactions.

https://t.co/84pn11rznI

#RareDiseaseDay #RareDiseaseDay2024

[Rare Disease Report @RareDR]

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:
https://t.co/yGl6vNadA9

#RareDiseaseDay #RareDiseaseDay2024

[Rare Disease Report @RareDR]

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.

https://t.co/9iYfjFraRf

#RareDiseaseDay #RareDiseaseDay2024 @CGT_Live

[Rare Disease Report @RareDR]

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.

https://t.co/53SHuyIxII

#RareDiseaseDay2024 #RareDiseaseDay

[Rare Disease Report @RareDR]

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.

https://t.co/KcFbzuoZh4

#RareDiseaseDay2024

[Rare Disease Report @RareDR]

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.

https://t.co/1BkC9WORvj

#RareDiseaseDay

[Rare Disease Report @RareDR]

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:
https://t.co/VdDMV9gOLt

[Rare Disease Report @RareDR]

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.

https://t.co/T0xFLCzlZb

[Rare Disease Report @RareDR]

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: https://t.co/CfqqLrj1ht

@HCPLiveNews $SWTX

[Rare Disease Report @RareDR]

A year of research emphasizes the significance of collaboration, standardized approaches, and targeted therapies in rare pulmonary diseases.
https://t.co/ZkT0HnhoVY

[HCPLive @HCPLiveNews]

The latest feature in The Unreached series delves into integrative care with expert perspectives from @GuyYoungMD, @DrTitiFasipe, and more.

Read here: https://t.co/GAhzsZsEY8
@TexasChildrens @ChildrensLA @Nemours @SCDAAorg @GiulianaGrossi #integrativemedicine #chornicdisease

[Rare Disease Report @RareDR]

Individuals seeking contraception will be able to access norgestrel without consulting a health care provider, reducing barriers to contraception access.
https://t.co/KN0xsZj5QU #FDA #birthcontrol

[Rare Disease Report @RareDR]

Efanesoctocog alfa demonstrates promising results in new phase 3 data emphasizing the drug's potential to address unmet needs within the hemophilia community.
https://t.co/SssxhSxHrq #ISTH2023 @isth #raredisease

[Rare Disease Report @RareDR]

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
https://t.co/srV5u1Fj5G @GuyYoungMD @ChildrensLA
#hemophilia #genetherapy #prophylaxis

[Rare Disease Report @RareDR]

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
https://t.co/nOKRfpQymW #FetalMedicine #Womenshealth

[Rare Disease Report @RareDR]

"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.
https://t.co/nFwpcCtMs4 #hemophilia #FDA