Rituximab to Eculizumab Switch Could Reduce NMOSD Hospitalizations Switching from rituximab to eculizumab as maintenance therapy for NMOSD may reduce the frequency and duration of hospitalizations.

Switching from #Rituximab to #Eculizumab as maintenance therapy for neuromyelitis optica spectrum disorder (#NMOSD) may reduce the frequency and duration of hospitalizations. Study in Neurology and Therapy.

Read here: https://bit.ly/3LKdPTL

#RareDisease #Neurology #MedSky #RareSky

💭 “Should patients with HAE get vaccinated?”

In her latest column, #HAE Contributor Aysha Bagley shares how self-education and connection help her manage #HereditaryAngioedema (HAE).

Read here➡️ https://bit.ly/43oaYpJ

#RareDisease #PatientAdvocacy #RareSky

Unmet Needs in Spanish Patients With MG Contribute to Disease Burden Access to diagnostic assays and residual disease burden in patients who have received treatment constitute unmet needs in MG.

Access to diagnostic assays, as well as treatment complications and efficacy, constitute unmet needs in #MyastheniaGravis (MG), according to a new study by Spanish researchers that appeared in the journal Neurology.

Read more: https://bit.ly/4hXBwnI

#RareDisease #Neurology #MedSky #RareSky

Garadacimab Demonstrates Long-Term Safety and Protection in HAE Long-term prophylaxis with garadacimab achieved a 94.9% reduction in HAE attack frequency from baseline.

#ACAAI25: #Garadacimab provided durable efficacy and consistent safety for up to 5.5 years in patients with #HereditaryAngioedema (#HAE), with sustained prevention of attacks and no serious treatment-related adverse events.

Read more: https://bit.ly/3LssjI0

#RareDisease #MedSky #RareSky

#TLM25: @howardtleemd.bsky.social, a transplant hepatologist at @bcmhouston.bsky.social, speaking Nov. 7 at @aasldnews.bsky.social 2025 in Washington, D.C.

Image & quote taken by Senior Correspondent, Larry Luxner.

#Hepatology #AASLD #MedicalTerminology #MedSky #RareSky

Immune Checkpoint Inhibitors May Increase Risk of Glomerular Lesions Including IgAN Of 211 kidney biopsies collected in the 10-year study, glomerular pathology was evident in 28 cases.

#KidneyWk: In a 10-year observational study, patients receiving immune checkpoint inhibitors (ICIs) developed a variety of #GlomerularLesions, including immunoglobulin A nephropathy (#IgAN).

Read here: https://bit.ly/47M2f1Z

#RareDisease #MedSky #RareSky

Ethnicity May Influence Clinical Outcomes in AAV Black adult patients with AAV were at a higher risk of experiencing poorer outcomes compared with their White counterparts.

#KidneyWk: Black patients with antineutrophil cytoplasmic antibody (#ANCA)-associated vasculitis (#AAV) are more likely to achieve poorer outcomes compared with their White counterparts.

Read more: https://bit.ly/4nHYhgI

#RareDisease #Nephrology #MedSky #RareSky

FDA Approves First-Ever Treatment for TK2d The combination therapy doxecitine and doxribtimine (Kygevvi®) has been approved by the US Food and Drug Administration (FDA) as the first and only

The combination therapy #Doxecitine and #Doxribtimine (#Kygevvi®) has been approved by the US Food and Drug Administration (FDA) as the first and only treatment for thymidine kinase 2 deficiency (#TK2d), UCB announced.

Learn more ➡️: https://bit.ly/4nGTlZe

#RareDisease #MedSky #RareSky

Rare Case Highlights Kidney Complications in WD WD can cause severe and potentially reversible renal injury through several mechanisms, including direct copper-induced tubular toxicity.

#WilsonDisease (WD), though primarily a hepatic and neurologic disorder, can cause severe and potentially reversible #RenalInjury through a variety of mechanisms, including direct copper-induced tubular toxicity.

Read more: https://bit.ly/48Wlxnu

#RareDisease #MedSky #RareSky

CIDP May Be a Complication of Cilta-Cel Therapy Researchers presented the case of 2 patients who developed CIDP after CAR-T cell therapy for multiple myeloma.

Researchers from Germany presented the case of 2 patients who developed #CIDP following treatment with ciltacabtagene-autoleucel (#CiltaCel), a chimeric antigen receptor T (CAR-T) cell therapy for #MultipleMyeloma.

Read here: https://bit.ly/3JBZesQ

#RareDisease #RareSky #MedSky

Multidisciplinary Approach May Be Key in the Management of Acute Visual Impairment Almost half (43.2%) of suspected cases of optic neuritis ended up being confirmed cases, while the rest was due to other diseases.

Of eligible patients referred to hospital with suspected #OpticNeuritis, 6.8% were diagnosed with neuromyelitis optica spectrum disorder (#NMOSD).

Read here: https://bit.ly/4npgqzv

#RareDisease #Neurology #Ophthalmology #RareSky

Hereditary Neuropathy With Liability to Pressure Palsies May Mimic CIDP HNPP can mimic CIDP in patients with a slowly progressive course and poor response to immunotherapy.

Hereditary neuropathy with liability to pressure palsies (#HNPP) can mimic chronic inflammatory demyelinating polyneuropathy (#CIDP) in patients with a slowly progressive course and poor response to immunotherapy.

Read more: https://bit.ly/4hrbFnG

#RareDisease #MedSky #RareSky

Caregivers Want to Know About the Risk of Premature Death in DS Caregivers of patients with DS wish to be informed about the possibility of the patient dying prematurely even though it is “scary.”

Caregivers of patients with #DravetSyndrome (DS) wish to be informed about the possibility of the patient dying prematurely, even though it is “scary”. Study in journal Epilepsy and Behavior.

Read more: https://bit.ly/43B3WxJ

#RareDisease #DS #Epilepsy #MedSky #RareSky

Miranda Gabrielli, ALGS Contributor, reflects on her son Jackson undergoing #CancerTreatment after having been through a #LiverTransplant as a result of #AlagilleSyndrome.

Read more: https://bit.ly/4o4ln1U

#RareDisease #ALGS #Chemotherapy #RareSky

Thymic Epithelial Cells May Play a Role in Thymoma-Associated MG Pathogenesis Thymic epithelial cells expressing neuromuscular antigens and medullary structures may play a role in the pathogenesis of thymoma-related MG.

Thymic epithelial cells expressing neuromuscular antigens and medullary structures may play a role in the pathogenesis of #Thymoma-associated #MyastheniaGravis (MG). Published in Mediastinum

Read more: https://bit.ly/43mdGfe

#RareDisease #MedSky #RareSky

Successful MALS Surgery Reported in Patient With PNH and Aplastic Anemia Distinct perioperative challenges are seen in patients with PNH and aplastic anemia, which are associated with hemolysis, thrombosis, and cytopenias.

A patient in India who was diagnosed with comorbid #MALS, #PNH, and #AplasticAnemia has undergone successful surgery that involved robotic release of the median arcuate ligament.

Read more: https://bit.ly/47IlFF1

#RareDisease #MedSky #RareSky

Unraveling the Relationship Between CLL and Advanced Age While advanced age appears to be a risk factor for CLL, the development of CLL also worsens age-related outcomes.

In the American Journal of Hematology, Dr Michael Hallek of the @unicologne.bsky.social wrote about the common features of #ChronicLymphocyticLeukemia (CLL), including some of the more notable epidemiological findings in recent years.

Read more: bit.ly/4o3xzjv

#MedSky #RareSky #CLL

Kristy Coleman, ITP Contributor, had never experienced an illness that required so many medical professionals to approve a single medication—until she was diagnosed with immune thrombocytopenia (#ITP), a rare disease.

Read more: https://bit.ly/43rC7Ib

#RareDisease #RareVoices #RareSky

Low Serum Complement C3 Predicts Poor Outcomes in MDS Low serum complement C3 levels are associated with poorer outcomes in patients with myelodysplastic syndromes (MDS).

Low serum complement C3 levels are associated with poorer outcomes in patients with #MyelodysplasticSyndromes (MDS), according to findings of a recent study published in Leukemia Research.

Read more: https://bit.ly/49eUKCS

#RareDisease #MDS #MedSky #RareSky

#NORDSummit: Terence Flotte, MD, president of the 7,000-member @asgct.bsky.social, speaking Oct. 21 at the 2025 @nordrare.bsky.social Breakthrough Summit in Washington, D.C.

Image & quote taken by Senior Correspondent, Larry Luxner.

#RareDisease #MedSky #RareSky

#NORDSummit: Lee Greenwood, whose 5-year-old daughter Noa was born with #CanavanDisease, a severe #GeneticDisorder found mainly among Ashkenazi Jews. In June 2022, the girl received lifesaving #GeneTherapy and is now developing normally.
@nordrare.bsky.social

#RareDisease #RareSky #MedSky

#NORDSummit: @klobuchar.senate.gov (D-Minnesota), addressing the 2025 @nordrare.bsky.social Breakthrough Summit on Oct. 21 in Washington, D.C.

Image and quote taken by Senior Correspondent, Larry Luxner.

#RareDisease #MedSky #RareSky

💜 October 20 is International Mastocytosis and Mast Cell Diseases Day

We’re sharing 5 facts about #SystemicMastocytosis to raise awareness and support faster diagnosis, research, and treatment for those affected.

📖 Learn more: https://bit.ly/3IETvCc

#RareDisease #RareSky #MedSky

Long-Term Mortality Rates May Be Higher Among Elderly Patients With MG Long-term mortality is higher among elderly patients with myasthenia gravis (MG) compared to elderly patients without the disease.

Long-term mortality is higher among elderly patients with #MyastheniaGravis (MG) compared to elderly patients without the disease. This is due to a higher comorbidity burden in patients with MG. Study in Muscle and Nerve.

Read more: https://bit.ly/43uIwCl

#RareDisease #MG #RareSky #MedSky

Optimized Outcomes in GD Linked to Newborn Screening, Comprehensive Monitoring Presymptomatic identification via newborn screening combined with rigorous surveillance enables the timely initiation of enzyme replacement therapy.

The use of #NewbornScreening and comprehensive monitoring can help to ensure the prompt initiation of enzyme replacement therapy (#ERT) when needed in patients with #GaucherDisease (GD), thus leading to optimized long-term clinical outcomes.

Read more: https://bit.ly/4qiPS5V

#RareSky #MedSky

Understanding the Many Psychological Effects of Hereditary Angioedema Patients with HAE are at a significantly higher risk of anxiety and depression, studies show.

People living with hereditary angioedema (#HAE) face a significantly increased risk of #MentalHealth comorbidities, as recent studies highlighting their psychosocial burdens have shown.

Learn more: https://bit.ly/4o8m0I4

#RareDisease #HereditaryAngioedema #MedSky #RareSky

#NORDSummit: Rachel Sher, partner at Manatt Philips, and also former vice-president of policy at @nordrare.bsky.social, speaking Oct. 20 at the 2025 NORD Breakthrough Summit in Washington, D.C.

Image and quote taken by Senior Correspondent, Larry Luxner.

#RareDisease #MedSky #RareSky

#NORDSummit: Pamela Gavin, @nordrare.bsky.social CEO, speaking on the topic of affordability and accessibility for drugs during the C-suite Perspectives Session at the NORD 2025 Breakthrough Summit in Washington, D.C.

#RareDisease #HealthCare #MedSky #RareSky

#NORDSummit: Emmelina Sophia Torres, 11, speaking about her #EDS diagnosis Oct. 20, 2025, during @nordrare.bsky.social's 2025 Breakthrough Summit in Washington, D.C.

Image & quote taken by Senior Correspondent, Larry Luxner

#RareDisease #EhlersDanlosSyndrome #EhlerDanlos #NORD #MedSky #RareSky

#NORDSummit: Pamela Gavin, CEO of @nordrare.bsky.social, speaking Oct. 20, 2025, at the opening session of NORD’s 2025 Breakthrough Summit in Washington, D.C.

Image & quote taken by Senior Correspondent, Larry Luxner

#RareDisease #MedSky #RareSky