🚨 Avance en enfermedades raras

China aprueba Selumetinib para NF1-PN, ampliando su uso de niños (3+) a adultos. Inhibidor de MEK con buen control tumoral y mejora de síntomas

💡 Más opciones de tratamiento a lo largo de la vida

⚠️ Solo educativo

#NF1 #RareDisease #Selumetinib #Oncology #ChinaNMPA

Fluorescent microscopy image of nf1 zebrafish model. Green signals represent increased pERK levels in nf1 mutant larvae compared to wild type. Magenta signals denote decreased levels of phosphorylated ERK1/2 (pERK) in nf1 mutant larvae compared to those in wild type.

The latest #EditorsChoice is from Miller, Halloran & co @uwmadison.bsky.social as they show that inhibition of chemokine receptor (Cxcr4) signaling improves habituation learning and increases cAMP signaling in a #zebrafish model of neurofibromatosis #NF1

doi.org/10.1242/dmm....

Trametinib Causes Reversible Cardiotoxicity in Almost One-Quarter of Exposed Adults With NF1 In the TRAIN trial, 23% of adults with NF1 taking trametinib developed cardiac dysfunction, although it was mostly moderate and reversible.

#Cancer therapy-related cardiac dysfunction (#CTRCD) appeared in 23% of neurofibromatosis type 1 (#NF1) patients receiving #Trametinib monotherapy in the phase 2 TRAIN trial.

Read more: https://bit.ly/4lSnxS2

#RareDisease #MedSky

An eye-tracking study in preschool children with neurofibromatosis type 1 #NF1 shows reduced attention to social stimuli and slower joint attention, highlighting targets for early intervention

onlinelibrary.wiley.com/doi/10.1111/...

Trametinib and Fimepinostat May Be More Potent Than Approved Agents for MPNSTs in NF1 In preclinical studies, trametinib and fimepinostat outperformed selumetinib and mirdametinib in inhibiting NF1-related MPNST growth.

#Trametinib and #Fimepinostat demonstrated potent antitumor activity in malignant peripheral nerve sheath tumor (#MPNST) cell lines derived from patients with neurofibromatosis type 1 (#NF1). Study in Cancers.

Learn more: https://bit.ly/3Ntn2kL

#RareDisease #MedSky #NeurofibromatosisType1

Adam Pearson rouba a cena no Oscar 2026: ator britânico aumenta visibilidade sobre a doença rara que causa tumores benignos nos nervos. 💪✨

#AdamPearson #Neurofibromatose #NF1 #Oscar2026 #Conscientização #AtorBritânico #ADifferentMan #Cinema

www.memeiros.com/2026/03/adam...

In Suspected NF1, RNA and Tissue Analysis Can Clarify Diagnosis RNA testing and tissue analysis can resolve variants of uncertain significance in individuals with suspected NF1 or other neurofibromatoses.

In patients with suspected neurofibromatosis type 1 (#NF1) or other #Neurofibromatoses who do not meet clinical criteria, RNA-based testing and tissue analysis can reclassify variants of uncertain significance and confirm or rule out a diagnosis.

Read here: https://bit.ly/4qR278M

#RareDisease

Literature Review Suggests NF1 Associated With a High Disease Burden In a systematic review on the NF1 disease burden and areas of unmet needs, researchers found that significant gaps in the literature remain.

Neurofibromatosis type 1 (#NF1) is associated with a high disease burden, but significant gaps in the literature regarding key areas of care remain. Study in Neuro-Oncology Advances @neuroonc.bsky.social

Read more: https://bit.ly/4qH9oJ5

#RareDisease #NeurofibromatosisType1 #MedSky

New research reveals that people with #NF1 face higher mortality from nervous system diseases in addition to cancer, with nearly half of years lost due to non-neoplastic causes. bit.ly/49Nydf0 #causeofdeath #neurofibromatosis

Specific Protein Domains in Genotype-Phenotype Correlation Analysis of NF1 Current research has linked specific molecular mechanisms to the varied clinical presentations of neurofibromatosis type 1 (NF1), thus serving as a

Current research has linked specific molecular mechanisms to the varied clinical presentations of #NeurofibromatosisType1 (#NF1), thus serving as a practical guideline for clinical management of the disorder.

Read more: https://bit.ly/4qB1LE9

#RareDisease #MedSky

The program looking for a cure for my condition lost all of its funding because of the administration. I don’t believe I can change anyone’s politics, but I can remind people that voting or choosing not to vote has consequences you might not have even thought about. #neurofibromatosis #NF1 #NF2

Neurofibromatosis type 1 (NF1) causes spine deformities. New study using a mouse model reveals the cellular cause and suggests a treatment that could prevent these deformities, offering hope for better management of NF1.😀
#NF1 #bone
@brjournal.bsky.social
www.nature.com/articles/s41...

Case Report: Concurrent NF1 and Pulmonary Hypertension A young female patient presented with concurrent NF1 and pulmonary hypertension.

A female patient was diagnosed with both #NeurofibromatosisType1 (NF1) and #PulmonaryHypertension simultaneously. Case published in @cureusmedical.bsky.social

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

#RareDisease #NF1 #PH #MedSky

Understanding the Elevated Risk of Epilepsy in Neurofibromatosis Type 1 Researchers found several significant predictive factors for epilepsy on brain MRIs in patients with NF1.

The estimated prevalence of #Epilepsy is substantially higher among individuals with neurofibromatosis type 1 (#NF1) compared to the general population, with reported rates ranging from 4% to 14% (vs 1% to 2%) depending on the age of onset.

Learn more: https://bit.ly/44xAbyz

#RareDisease #MedSky

PAS-004 Tablets Show Promise for NF1 Plexiform Neurofibromas PAS-004 tablets show dose-proportional, predictable pharmacokinetics with less variability than capsules, supporting improved dosing for NF1-PN.

#PAS004 showed a long half-life of approximately 57 hours, supporting their potential for improved patient dosing and therapeutic consistency in #NeurofibromatosisType1 (NF1)-associated plexiform #Neurofibromas, Pasithea Therapeutics announced.

Read here: https://bit.ly/3KmA4z3

#RareDisease #NF1

Case Report: Atypical Pediatric NF1 Presentation With Optic Nerve Gliomas, Glaucoma A patient presented with proptosis of the left eye and eventually developed elevated intraocular pressure in the eye, for which goniotomy was performed.

A pediatric patient presented with atypical neurofibromatosis type 1 (#NF1) with #OcularSymptoms, highlighting that coordinated, multidisciplinary teams are needed to care for children with this disorder. Published in @cureusmedical.bsky.social

Learn more: https://bit.ly/48N2k71

#MedSky

✨ China aprueba #Luvometinib (#Fumaining):
👤 Para adultos con #LCH y neoplasias histiocíticas
👦👧 Para niños y jóvenes ≥2 años con #NF1 y psintomáticos

📎 Más información: dengyuepharma.com/product/fuma...
📧 info@dengyuemed.com

#NeurofibromatosisTipo1 #VíaMAPK #DengYueMedicinasEnHongKong

Study Identifies Glial-to-Mesenchymal Shift Driving NF1 Tumor Malignancy New research suggests that glial-to-mesenchymal reprogramming and Sox9 upregulation appear central to NF1-related malignant transformation.

Half of malignant peripheral nerve sheath tumors in humans arise from #Neurofibroma progression, and current therapeutic options remain ineffective.

Read more: https://bit.ly/3MB6u9m

#NF1 #RareDisease #NeurofibromatosisType1

Koselugo（セルトメチニブ）、神経線維腫症1型成人患者に対する初のFDA承認薬に — 第3相KOMET試験結果に基づく | STELLANEWS.LIFE アストラゼネカ傘下のアレクシオンは、神経線維腫症1型（NF1）に伴う症候性・手術不能な神経叢神経線維腫を有する成人に対し、MEK阻害薬Koselugo（セルトメチニブ）がFDAの承認を取得したと発表。KOMET試験で20％の奏効率を示し、治療選択肢が拡大。

FDA approves AstraZeneca’s Koselugo (selumetinib) for adults with neurofibromatosis type 1 (NF1).

🔗 Full article: stellanews.life/technology_c...

#Koselugo #Selumetinib #NF1 #AstraZeneca #Alexion #RareDisease #FDAApproval #MEKinhibitor #ClinicalTrials

【Koselugo（セルメチニブ）、成人NF1患者に対する初のFDA承認薬】
アストラゼネカ（アレクシオン部門）のMEK阻害薬セルメチニブ（Koselugo）が、
神経線維腫症1型（NF1）に伴う症候性・手術不能の叢状神経線維腫（PN）を有する成人患者に対して米国初の承認薬に。
🧬 第3相KOMET試験で
　・奏効率：20％（プラセボ5％）
　・奏効の86％が6か月以上持続
🔹 安全性は小児適応時のデータと整合

#Koselugo #セルメチニブ #NF1 #神経線維腫症 #アストラゼネカ #Alexion #希少疾患 #MEK阻害薬 #KOMET試験

Neurofibromatosis Midwest NF1 Treatment News: FDA Expands Selumetinib (KOSELUGO) Approval to Adults  % %

FDA expands approval of Koselugo (selumetinib) to adults with symptomatic NF1 PNs.

www.nfmidwest.org/nf1-treatmen...

#neurofibromatosis #NF1

Somatostatin Analogs Effectively Treat Excess Growth Hormone in Pediatric NF1 An analysis of patient outcomes showed that treatment with somatostatin analogs was effective in normalizing insulin-like growth factor-1.

Children with neurofibromatosis 1 (#NF1) may develop excess growth hormone and optic pathway glioma (#OPG), which can be treated with somatostatin analogs.

Read here: https://bit.ly/4pjDhy4

#RareDisease #Neurofibromatosis1 #GrowthHormone #MedSky

Case Report: NF1-Associated Hypertrophic Cardiomyopathy A young man with signs of heart failure was simultaneously diagnosed with both NF1 and hypertrophic cardiomyopathy.

A young man was simultaneously diagnosed with neurofibromatosis type 1 (#NF1) and #HypertrophicCardiomyopathy, highlighting how these 2 conditions often overlap. This case report was published in Circulation.

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

#RareDisease #Cardiology #MedSky

Case Study: Patient With NF1 Develops NF1-Related, NF1-Unrelated Tumors In addition to the patient's unusual NF1-related and -unrelated tumors, she exhibited typical NF1-linked disease manifestations.

A case study has been reported describing a patient with neurofibromatosis type 1 (#NF1) who developed a rare, unusually wide range of both NF1-related and -unrelated tumors.

Read more: https://bit.ly/47P8B0x

#RareDisease #NeurofibromatosisType1 #MedSky

New Study Published
Explore 15 years of clinical data on Neurofibromatosis Type 1 in Hungary
262 patients
80% genetic test positivity
High prevalence of cognitive & skeletal complications
National protocol proposed
Full text: doi.org/10.1556/2066...
#Neurofibromatosis #NF1 #DHS #AKJournals

Your gynoid ex is dissociating, there's spilled bean juice on the kitchen counter, & the world's burning down outside... Who dunnit? Find out in my 90's-style dystopian #retrogame Neofeud 2! #NF1 is 70% off now! store.steampowered.com/app/673850/N... #indiegame #indiedev #gamedev #cyberpunk

Your gynoid ex is dissociating, there's spilled bean juice on the kitchen counter, & the world's burning down outside... Who dunnit? Find out in my 90's-style dystopian #retrogame Neofeud 2! #NF1 is 70% off now! […]

[Original post on mastodon.social]

Your gynoid ex is dissociating, there's spilled bean juice on the kitchen counter, & the world's burning down outside... Who dunnit? Find out in my 90's-style dystopian #retrogame Neofeud 2! #NF1 is 70% off now! store.steampowered.com/app/673850/N... #indiegame #indiedev #gamedev #cyberpunk

Second-Hit NF1 Mutations in Normal Tissues May Drive Tumor Risk in NF1 In NF1, somatic "second-hit" mutations in the unaffected NF1 allele occur and likely contribute to variable tumor risk.

Individuals with #NeurofibromatosisType1 (NF1) acquire somatic “second-hit” mutations in the unaffected #NF1 allele, which may underlie the diverse tumor risks and clinical variability observed in the condition. Study in @natgenet.nature.com

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

#RareDisease #NF1

Visuospatial and Visuomotor Deficits Observed Among Patients With NF1 Visuospatial and visuomotor ability gaps are largest in children with NF1 and can vary by the type of test used.

Individuals with #NeurofibromatosisType1 (#NF1) frequently exhibit significant deficits in visuospatial and visuomotor abilities compared with those without NF1. Results in Neuropsychology Review.

Read more: https://bit.ly/4n3xueg

#RareDisease #Neuropsychology #RareSky #MedSky