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rarediseaseadvisor.bsky.social
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
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.
bit.ly
November 13, 2025 at 3:08 PM
rarediseaseadvisor.bsky.social
💭 “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
November 11, 2025 at 9:05 PM
rarediseaseadvisor.bsky.social
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
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.
bit.ly
November 11, 2025 at 3:48 PM
rarediseaseadvisor.bsky.social
#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
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.
bit.ly
November 7, 2025 at 9:57 PM
rarediseaseadvisor.bsky.social
#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
November 7, 2025 at 9:43 PM
rarediseaseadvisor.bsky.social
#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
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.
bit.ly
November 7, 2025 at 8:54 PM
rarediseaseadvisor.bsky.social
#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
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.
bit.ly
November 7, 2025 at 8:07 PM
rarediseaseadvisor.bsky.social
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
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
bit.ly
November 7, 2025 at 4:06 PM
rarediseaseadvisor.bsky.social
#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
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.
bit.ly
October 31, 2025 at 4:15 PM
rarediseaseadvisor.bsky.social
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
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.
bit.ly
October 30, 2025 at 6:14 PM
rarediseaseadvisor.bsky.social
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
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.
bit.ly
October 24, 2025 at 8:21 PM
rarediseaseadvisor.bsky.social
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
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.
bit.ly
October 24, 2025 at 7:08 PM
rarediseaseadvisor.bsky.social
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
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.”
bit.ly
October 23, 2025 at 7:36 PM
rarediseaseadvisor.bsky.social
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
October 23, 2025 at 6:11 PM
rarediseaseadvisor.bsky.social
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
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.
bit.ly
October 22, 2025 at 6:57 PM
rarediseaseadvisor.bsky.social
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
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.
bit.ly
October 22, 2025 at 5:45 PM
rarediseaseadvisor.bsky.social
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
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.
bit.ly
October 22, 2025 at 5:12 PM
rarediseaseadvisor.bsky.social
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
October 22, 2025 at 3:37 PM
rarediseaseadvisor.bsky.social
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
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).
bit.ly
October 21, 2025 at 6:54 PM
rarediseaseadvisor.bsky.social
#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
October 21, 2025 at 6:38 PM
rarediseaseadvisor.bsky.social
#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
October 21, 2025 at 6:26 PM
rarediseaseadvisor.bsky.social
#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 21, 2025 at 3:20 PM
rarediseaseadvisor.bsky.social
💜 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
October 20, 2025 at 8:32 PM
rarediseaseadvisor.bsky.social
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
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.
bit.ly
October 20, 2025 at 7:13 PM
rarediseaseadvisor.bsky.social
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
Understanding the Many Psychological Effects of Hereditary Angioedema
Patients with HAE are at a significantly higher risk of anxiety and depression, studies show.
www.rarediseaseadvisor.com
October 20, 2025 at 4:50 PM