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Potential Biomarker of Treatment Response Identified in SMA

Rare Disease Advisor @rarediseaseadvisor.bsky.social · 13h

The median amplitude of the pollicis brevis compound muscle action potential is sensitive enough to capture the response to treatment in patients with #SpinalMuscularAtrophy (SMA). Study in Muscle and Nerve

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

#RareDisease #MedSky #RareSky

The median amplitude of the pollicis brevis compound muscle action potential is sensitivity enough to capture the response to treatment in SMA

Platelets Play a Key Role in MG Pathogenesis

Rare Disease Advisor @rarediseaseadvisor.bsky.social · 1d

#LiverTransplantation and treatment with disease-modifying therapies significantly improve survival in patients with hereditary variant transthyretin amyloidosis, which can lead to cardiomyopathy (#ATTRCM) and polyneuropathy (#ATTRPN). @jinternmed.bsky.social

Read more: https://bit.ly/48j6jZt

A new study supports the notion that activated platelets play a key role in the pathogenesis of myasthenia gravis (MG).

NORD Rare Cancer Coalition 2025: #RareCancerDay

Rare Disease Advisor @rarediseaseadvisor.bsky.social · 1d

💬 Voices featured at #RareCancerDay:

Melody Burchett, Founder of @acureinsight.bsky.social

Jim Palma, CEO @targetcancer.bsky.social

Alexandria Caron, Membership Manager @nordrare.bsky.social

Katie Doble, Patient Advocate

Dr. Taran Gujral, PhD, @fredhutch.org

#RareCancer #CancerResearch

Rare Disease Advisor @rarediseaseadvisor.bsky.social · 1d

🌍 On 9/30, we joined
@nordrare.bsky.social
#RareCancerDay in DC—bringing together patients, advocates & researchers to spotlight the 1 in 4 living with rare cancer.

Stories of resilience, hope & advocacy were shared.

Read more➡️: bit.ly/4mVjpzF

#RareDisease #RareCancer

NORD’s Rare Cancer Coalition marked #RareCancerDay 2025 with an inspiring event uniting patients, advocates, and experts to advance rare cancer awareness.

Acute Subdural Hematoma in Elderly Patient Diagnosed as Hemophilia

Rare Disease Advisor @rarediseaseadvisor.bsky.social · 1d

An elderly man with no prior history of #BleedingDisorders experienced recurrent #AcuteSubduralHematoma (ASDH) following a mild head trauma and was diagnosed with mild congenital #Hemophilia A. Case report in @cureusmedical.bsky.social

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

#RareDisease #MedSky

An elderly patient with recurrent acute subdural hematoma following head was found to have congenital mild hemophilia A.

Combination PMO Treatment Holds Promise for DMD

Rare Disease Advisor @rarediseaseadvisor.bsky.social · 2d

A team of researchers from the US and Korea developed a TGF-β-#TPMO that could be beneficial in Duchenne muscular dystrophy (#DMD) when used in combination with #DPMO. @moltherapy.bsky.social

Read more: https://bit.ly/4gV0LX8

#RareDisease #DuchenneMuscularDystrophy #MedSky

Researchers developed a TGF-β-targeting PMO that could be beneficial in DMD when used in combination with dystrophin exon skipping PMO.

Migalastat Efficient in Female Patients With Fabry Disease

Rare Disease Advisor @rarediseaseadvisor.bsky.social · 2d

#FabryDisease is severe and causes considerable burden in female patients, according to a study that appeared in the Journal of Medical Genetics. The study also showed that #Migalastat is efficient in the long term in these patients.

Learn more: https://bit.ly/3KB4ahQ

#RareDisease #MedSky #RareSky

Fabry disease is severe and causes considerable burden in female patients and migalastat is efficient in the long term in these patients.

BTK Inhibitors Overcome Poor Prognosis of CLL With NOTCH1 Mutations

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Rare Disease Advisor @rarediseaseadvisor.bsky.social · 2d

Bruton tyrosine kinase inhibitors (#BTKis) appeared to offset the adverse prognostic impact of #NOTCH1 mutations in chronic lymphocytic leukemia (#CLL). Study in European Journal of Haematology.

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

#RareDisease #Leukemia #Hematology #Oncology #OncSky #RareSky

BTKis neutralized the adverse prognostic effect of NOTCH1 mutations in chronic lymphocytic leukemia (CLL), a study found.

Blood Count Abnormalities Predict Poor Outcomes in Advanced Systemic Mastocytosis

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Rare Disease Advisor @rarediseaseadvisor.bsky.social · 5d

Elevated #Leukocyte, #Monocyte and #Eosinophil counts are adverse prognostic indicators in advanced #SystemicMastocytosis, correlating with additional mutations, specific disease subtypes and shorter overall survival. @jacionline.bsky.social

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

#RareSky #MedSky

Leukocytosis, monocytosis, and eosinophilia were consistently associated with advanced systemic mastocytosis, according to a recent study.

First Patient Dosed in Phase 1 Trial of CBX-250 for Myeloid Malignancies, MDS

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Rare Disease Advisor @rarediseaseadvisor.bsky.social · 5d

Crossbow Therapeutics announced dosing of the first participant in the phase 1 CROSSCHECK-001 #ClinicalTrial of CBX-250 for #MyeloidMalignancies, including #MyelodysplasticSyndromes (MDS).

Read more: https://bit.ly/3WmgS6C

#RareDisease #CROSSCHECK001 #CBX250 #MDS #MedSky

The CROSSCHECK-001 study is a first-in-human trial of CBX-250, a novel T-cell engager for myeloid malignancies, including MDS.

CS1 Granted FDA Fast Track Designation for PAH Treatment

Rare Disease Advisor @rarediseaseadvisor.bsky.social · 7d

#CS1, an oral histone deacetylase inhibitor developed by #CerenoScientific, has received #FastTrack designation from the @fda.gov for the treatment of pulmonary arterial hypertension (#PAH), the company announced.

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

#RareDisease #Pulmonology #MedSky #RareSky

CS1, an oral histone deacetylase inhibitor, has received Fast Track designation from the FDA for the treatment of pulmonary arterial hypertension.

Rare Disease Advisor @rarediseaseadvisor.bsky.social · 7d

🍂 Medical Ultrasound Awareness Month (MUAM), observed each October, recognizes the importance of #Sonography and the professionals who perform it. This year, we’re highlighting its unique impact on the #RareDisease community.

#Ultrasound #MedSky

Rare Disease Advisor @rarediseaseadvisor.bsky.social · 8d

💜 Today is Limb Girdle Muscular Dystrophy (LGMD) Awareness Day

We’re sharing 5 self-care tips from columnist Jakira Avery, who lives with #LGMD and knows firsthand the challenge of managing limited energy.

📖Read more: https://bit.ly/4nurkF2

#RareDisease #MuscularDystrophy #RareSky #MedSky

Luspatercept May Achieve Transfusion Independence in Lower-Risk MDS

Rare Disease Advisor @rarediseaseadvisor.bsky.social · 8d

Jaimie Sheil, #CIDP Contributor, discusses the difficult symptoms associated with the diagnosis and how she never expected 'itching' to be one of the most painful.

Read the full column ➡️: https://bit.ly/4pPxrpc

#RareDisease #CIDP #PatientPerspective #MedSky

Rare Disease Advisor @rarediseaseadvisor.bsky.social · 8d

#Luspatercept was effective and well-tolerated for management of #Anemia in transfusion-dependent lower-risk #MyelodysplasticSyndromes (LR-MDS), with the strongest responses observed in patients who were RS⁺ or had a low transfusion burden @bloodadvances.bsky.social

Read: https://bit.ly/46HlokT

Luspatercept induced 8-week transfusion independence in over half of patients with lower-risk myelodysplastic syndromes (MDS), a study found.

Trial Results Support Use of Patisiran in ATTR-PN

Rare Disease Advisor @rarediseaseadvisor.bsky.social · 8d

#Patisiran treatment showed consistent positive effect across several endpoints, including #Polyneuropathy manifestations in patients with a #V122I or #T60A variant in the #TTR gene, in a multicenter phase 4 #ClinicalTrial

Read more: https://bit.ly/48CO8hm

#RareDisease #ATTRPN #MedSky

Patisiran treatment showed a consistent positive effect across several endpoints in patients with a V122I or T60A variant-associated ATTR-PN.

Rare Disease Advisor @rarediseaseadvisor.bsky.social · 13d

🔬 What is Friedreich Ataxia?

This rare genetic disorder affects movement, coordination, and daily life. On #InternationalAtaxiaAwarenessDay, let’s raise understanding and support research.

📚 Learn more: https://bit.ly/4lQM0pk

#RareDisease #Neurology #FriedreichAtaxia #NeuroSky #RareSky #MedSky

FNAIT Identified as a Notable Cause in Some Cases of Prenatal Intracranial Hemorrhage

Rare Disease Advisor @rarediseaseadvisor.bsky.social · 14d

New research into prenatally diagnosed intracranial hemorrhage (#ICH) presented at the 2025 @isuog.bsky.social World Congress revealed fetal and neonatal alloimmune thrombocytopenia (#FNAIT) as one of the identifiable causes.

Read more: https://bit.ly/42EEDue

#RareSky #MedSky

FNAIT was identified as one of the potential causes of nonobvious prenatal intracranial hemorrhage discovered using ultrasound and MRI.

Cardiac MRI May Lead to Early Diagnosis in ATTR-CM Care

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Rare Disease Advisor @rarediseaseadvisor.bsky.social · 14d

The extracellular volume derived from cardiac #MRI is highly accurate in identifying patients with transthyretin-mediated amyloid cardiomyopathy (#ATTRCM) who have negative technetium-99m-pyrophosphate (Tc-PyP) scans. @jaccjournals.bsky.social

Read more: https://bit.ly/47SHof0

#MedSky #RareSky

The extracellular volume derived from cardiac MRI highly accurate in identifying patients with ATTR-CM with negative Tc-PyP scans.

Rare Disease Advisor @rarediseaseadvisor.bsky.social · 15d

Kristy Coleman, ITP Contributor, discusses the challenges posed by insurance companies denying coverage and the importance of advocating for yourself.

Read more here: https://bit.ly/3VwdTs4

#RareDisease #ITP #PatientPerspective #MedSky #RareSky

Fighting Pompe is a Personal, Lifelong Endeavor - Rare Disease Advisor

Rare Disease Advisor @rarediseaseadvisor.bsky.social · 19d

🫁 “When you live with Pompe disease, the word strength takes on a whole new meaning."

— Bruce Campbell, Pompe Contributor

📖 Read more: https://bit.ly/46spRaX

#PompeDisease #RareDisease #PatientStories

When you live with Pompe disease, the word strength takes on a whole new meaning.

Rare Disease Advisor @rarediseaseadvisor.bsky.social · 27d

🎙️Rare Care: The Rare Disease Advisor Podcast

Larry Luxner, interviews neurologist Michio Hirano, MD, of @columbiauniversity.bsky.social about an investigative therapy that shows promise in treating #TK2d, an #UltrarareDisease

🎧 Listen to the full podcast here: https://bit.ly/4pfywX7

#RareDisease

Rare Disease Advisor @rarediseaseadvisor.bsky.social · 28d

🎈 Families facing #DMD show incredible resilience — but gaps in specialized care remain.

Contributor Sarka Palouckova shares her journey advocating for her grandson William’s well-being.

Read more: https://bit.ly/4m6kEM5

#RareDisease #DuchenneMuscularDystrophy #Caregiver #RareSky

FREESIA-3 Study Adds First US Site

Rare Disease Advisor @rarediseaseadvisor.bsky.social · 28d

Philadelphia @pennmedicine.bsky.social has been added as a site for the #FREESIA3 trial investigating #Nipocalimab vs intravenous immunoglobulin (#IVIG) in pregnancies at risk of fetal and neonatal alloimmune thrombocytopenia (#FNAIT).

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

#RareSky #MedSky

The study is recruiting up to 50 participants to assess the efficacy and safety of nipocalimab in reducing the risk of severe FNAIT.