Breaking news, patient stories & FDA updates within the rare disease community. Listen to our podcast: https://xitter.cf/t.co/xUkFDfCDUV, hosted by @GiulianaGrossi
@MDMagazine
Joined April 2012
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Rare Disease Report retweeted
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
Rare Disease Report retweeted
FDA approves Roctavian, the first gene therapy for adults with Hemophilia A.
Hear thoughts from the experts:
ow.ly/4gms50P1VmZ #genetherapy #raredisease @GiulianaGrossi
Rare Disease Report retweeted
#BREAKING: The @US_FDA has approved the first #genetherapy for the treatment of adults with severe #HemophiliaA without antibodies to AAV5 detected by an approved test, giving @BioMarin's valoctocogene roxaparvovec-rvox (Roctavian) the go-ahead.
Read:
ow.ly/TbSY50P0V62
Rare Disease Report retweeted
Breaking news: Roctavian gene therapy gets the green light from the FDA!
A revolutionary approach to treating severe hemophilia A.
ow.ly/hOfI50P0VvJ #Roctavian #FDAapproval #HemophiliaA
Rare Disease Report retweeted
Today's FDA approval of sodium oxybate Lumryz marks the first once-at-bedtime oxybate treatment for individuals living with narcolepsy.
ow.ly/Mk9750O6X4X
Rare Disease Report retweeted
“We have now seen consistently across the program the potential to quite meaningfully reduce Phe levels in patients with PKU," lead investigator Dr. Jerry Vockley says in a statement. @SIMDtweets #SIMD2023 #homocystinuria #phenylketonuria
ow.ly/8jzl50Nn3Ca
Rare Disease Report retweeted
A study examined knowledge and attitude towards premarital sickle cell trait screening among healthcare students in Ghana. Results can inform interventions aimed at improving perceptions about testing for sickle cell trait among young adults. #SCT #SCD
ow.ly/ZSCc50NhmkO
Rare Disease Report retweeted
A clinical trial is testing whether a smartphone app called SPARC, which prompts users to perform meditative breathing exercises and contains disease-relevant education modules, can help ease fatigue and improve life quality for people w/ #sarcoidosis: loom.ly/YnH791s
Rare Disease Report retweeted
The team disrupting the anaphylaxis treatment space with nasal spray:
#AAAAI23 #anaphylaxis #MedTwitter hcplive.com/view/autoinjecto…
Rare Disease Report retweeted
Investigators at @mrcunitgambia suggest further investigation into novel iron supplement as a safe and effective alternative to traditional therapy for iron deficiency anemia:
hcplive.com/view/novel-iron-… #anemiaprevention #pediatrichealth #medicaladvancements
Rare Disease Report retweeted
Potential symptoms of cardiac sarcoidosis might include:
•Irregular heartbeats
•Syncope
•Shortness of breath
Learn more: loom.ly/hpq0iQA
#heartmonth #heartmonth2023 #cardiacsarc #cardiacsarcoidosis #sarcoidosis
Rare Disease Report retweeted
Almost 25 years later, Dr. Claudia Morris concluded 2022 by presenting phase 2 data at the 64th ASH Annual Meeting that demonstrated the therapy's benefit, and her hypothesis about Arginine therapy for #VOCs in #SickleCell
@ClaudiaRMorris1 @EmoryPediatrics
ow.ly/Yuwu50MaAC2
Rare Disease Report retweeted
Really nice qualitative study presented by med student Lilia Shen, looking at experiences of adolescents with #SickleCellDisease
A quote like this is not surprising but we need to work to eliminate stigma and inadequate care
We need a zero tolerance policy for this
#ASH2022
Rare Disease Report retweeted
Thankfully the world has many myeloma heroes, including these presented at #ASH2022 last evening. Congratulations especially to @AhlstromJenny and @MyelomaTeacher. Keep knocking down diversity barriers @MYELOMAhope as you lead #myeloma pts to improved access and better therapy.
Rare Disease Report retweeted
New data presented at #ASH2022 show the use of mitapivat is beneficial for patients with a pyruvate kinase (PK) deficiency.
ow.ly/aiEy50M1cT0
Rare Disease Report retweeted
More clinically significant outcomes data for the lone drug approved for #EoE: dupilumab.
ow.ly/9bs550LETzT
Rare Disease Report retweeted
Another day of #KidneyWk! Follow for the latest news in #nephrology and important data from the @ASNKidney Annual Meeting
Rare Disease Report retweeted
Since the FDA has deferred action on cipaglucosidase alfa/AT-GAA, let expert @barrybyrne1 catch you up on all you need to know about Pompe disease in my latest @RareDR episode!
hcplive.com/view/rare-diseas…
Rare Disease Report retweeted
Excited to hear @CMichaelGibson & Co. break down #insomnia—an all-too-common condition that still sometimes escapes affected patients and their clinicians.
Rare Disease Report retweeted
Our new #HeartTeam episode is live, and it's a good one! @DrMarthaGulati joins @drmikefarkouh and Jorge Plutzky to discuss challenges in detecting, researching and treating women's cardiovascular disease.
Watch here: www2.hcplive.com/view/heart-…