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rarediseaseadvisor.bsky.social
Rare Disease Advisor
@rarediseaseadvisor.bsky.social
130 followers 300 following 500 posts
Trusted knowledge base of practical information and resources focused on treating and diagnosing #RareDisease.

https://www.rarediseaseadvisor.com/
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rarediseaseadvisor.bsky.social
#SMFM2026: A history of #FNAIT is associated with mental, emotional, behavioral, and developmental (#MEBD) disorders, making medical surveillance an imperative. Presented at 2026 Society for Maternal Fetal Medicine Pregnancy Meeting.

Read here: https://bit.ly/4aHG8MC

#RareDisease #MedSky
FNAIT Associated With Childhood Neuropsychiatric Disorders
FNAIT can lead to intracranial hemorrhage, which can increase the risk of various developmental delays later in childhood, according to recent research.
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February 17, 2026 at 6:30 PM
rarediseaseadvisor.bsky.social
The Vasculitis Foundation opened the first international Pediatric Vasculitis Registry (PedsVPPRN) in October 2025.

Read the full feature: https://bit.ly/4cikjEC

#RareDiseaseMonth #RareDisease #Vasculitis #Rheumatology
Vasculitis Foundation Opens First-Ever Registry for Pediatric Rheumatology Patients
The Vasculitis Foundation opened the first international Pediatric Vasculitis Registry (PedsVPPRN) in October 2025.
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February 17, 2026 at 5:50 PM
rarediseaseadvisor.bsky.social
Gastrointestinal issues and facial edema appear to be the most bothersome symptoms for patients with #CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy (#CHAPLE) disease.

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

#RareDisease #MedSky
The 6 Core Symptoms in Patients With CHAPLE Disease
Gastrointestinal symptoms and facial edema appear to be the most bothersome symptoms for patients with CHAPLE disease.
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February 16, 2026 at 9:47 PM
rarediseaseadvisor.bsky.social
Early initiation of #Emicizumab treatment seems safe and effective for the management of acquired #HemophiliaA. Study in Seminars in Thrombosis and Hemostasis.

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

#RareDisease #Hemophilia #Hematology
Study Supports Use of Emicizumab for the Treatment of Acquired Hemophilia A
Early initiation of emicizumab treatment seems safe and effective for the management of acquired hemophilia A, according to a new study.
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February 16, 2026 at 6:05 PM
rarediseaseadvisor.bsky.social
Benzo[a]pyrene (#BaP) exerts its activity in the pathogenesis of primary biliary cholangitis (#PBC) by targeting the Fc receptor-like 3 (#FCRL3) gene. Study in BMC Gastroenterology.

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

#RareDisease #PrimaryBiliaryCholangitis #Gastroenterology
Study Uncovers Mechanism of How BaP Induces PBC
BaP exerts its activity in the pathogenesis of primary biliary cholangitis (PBC) by targeting the Fc receptor-like 3 gene, a new study shows.
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February 16, 2026 at 5:15 PM
rarediseaseadvisor.bsky.social
#Berotralstat was associated with significant and durable reductions in hereditary angioedema (#HAE) attack rates in real-world clinical practice, irrespective of patients’ baseline attack frequency.

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

#RareDisease #HereditaryAngioedema
Berotralstat Cuts HAE Attack Rates Regardless of Frequency at Baseline
Berotralstat was associated with significant reductions in HAE attack rates across baseline attack-frequency strata in real-world practice.
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February 15, 2026 at 9:46 PM
rarediseaseadvisor.bsky.social
A substantial proportion of girls treated for acute lymphoblastic leukemia (#ALL) in childhood experience long-term endocrine sequelae, but ovarian reserve shows evidence of gradual recovery except after intensive therapy. Study in the Annals of Hematology.

Read more: https://bit.ly/461FwPr
Childhood ALL Treatment Can Leave Lasting Endocrine Effects With Partial Gonadal Recovery
Over 40% of female ALL survivors had reduced ovarian reserve, yet anti-Müllerian hormone increased during longer follow-up.
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February 15, 2026 at 6:24 PM
rarediseaseadvisor.bsky.social
Children with Prader-Willi syndrome (#PWS) exhibit a broad spectrum of sleep-disordered breathing (#SDB), particularly obstructive sleep apnea (#OSA), which is strongly associated with body mass index (#BMI). Findings in Respiratory Medicine.

Read here: https://bit.ly/4cnxa8y
Obesity Exacerbates Sleep-Disordered Breathing in Prader-Willi Syndrome
PSG showed a high prevalence of OSA in the PWS population, along with abnormal arousal response and reduced deep sleep duration.
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February 14, 2026 at 7:51 PM
rarediseaseadvisor.bsky.social
Cold agglutinin disease (#CAD), although rare, warrants early consideration in older adults with unexplained #Anemia because delayed recognition can lead to recurrent #Hemolysis, unnecessary investigations, and preventable morbidity.

Read more: https://bit.ly/4tt0zEm

#RareDisease #MedSky
Case Report: Cold Agglutinin Disease May Explain Obscure Cases of Anemia
Cold agglutinin disease (CAD), although rare, warrants early consideration in older adults with unexplained anemia because delayed recognition can lead to
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February 14, 2026 at 7:05 PM
rarediseaseadvisor.bsky.social
Drug-induced immune hemolytic anemia (#DIIHA) should be investigated in suspected cases of warm autoimmune hemolytic anemia (#WarmAIHA), as the presence of warm autoantibodies may be part of disease manifestation. Case report in @cureusmedical.bsky.social

Read here: https://bit.ly/404uPYN
Drug-Induced Immune Hemolytic Anemia Secondary to Cephalexin: A Case Report
Drug-induced immune hemolytic anemia (DIIHA) should be investigated in suspected cases of warm autoimmune hemolytic anemia (warm AIHA), as the presence of
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February 13, 2026 at 6:05 PM
rarediseaseadvisor.bsky.social
#Tofacitinib combined with #Iguratimod shows dual efficacy in controlling #Synovitis and #LungFibrosis. Study in Frontiers in Immunology.

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

#RareDisease #Immunology #ProgressivePulmonaryFibrosis
Tofacitinib and Iguratimod Combination Shows Promise in PPF
Tofacitinib and iguratimod show dual efficacy in controlling synovitis and pulmonary fibrosis, according to a new study.
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February 13, 2026 at 3:20 PM
rarediseaseadvisor.bsky.social
What is Expanded Access? 💊

For patients facing serious or life-threatening conditions who have run out of options and do not qualify for a clinical trial, Expanded Access may offer another path forward.

Learn more: https://bit.ly/4bS02Wu

#RareAdvocacySpotlight #ReaganUdallFoundation
The image is a graphic about "Expanded Access" by the Reagan-Udall Foundation for the FDA. It includes the text: "Expanded Access (EA), also called compassionate use, named-patient use, or single-patient access, helps patients with serious or life-threatening conditions access investigational treatments not yet approved by the FDA." There is also an illustration of two hands clasped together, suggesting support or partnership. At the bottom, there is a label: "Rare Advocacy Spotlight." The image features informational text on Expanded Access (EA) by the Reagan-Udall Foundation for the FDA. It describes EA as a program for patients with no other approved treatment options, stating that physicians, caregivers, and healthcare teams can request it. The background includes a person with hands on their head, partially obscured. The bottom section displays a blue stripe with the text "Rare Advocacy Spotlight." A promotional image for the Reagan-Udall Foundation for the FDA. It features a person embracing another person above text reading "EA Provides Step-By-Step Guidance." Bullet points highlight support for patients, caregivers, healthcare providers, companies, and sponsors. The bottom section includes a "Rare Advocacy Spotlight" logo. The background is a gradient of yellow transitioning to blue.
February 12, 2026 at 8:07 PM
rarediseaseadvisor.bsky.social
💬 Notable Quotes from the Reagan-Udall Foundation for the FDA

🔍Learn more about the Reagan-Udall Foundation and its programs, including Expanded Access: https://reaganudall.org/rare-disease

#RareAdvocacySpotlight #ReaganUdallFoundation #RareDisease
An image with a purple background featuring the logo of the Reagan-Udall Foundation for the FDA at the top. Below the logo, there is a large quote symbol and the words "Notable Quotes" in white text. At the bottom, there is a banner with the text "Rare Advocacy Spotlight" and a graphic of a megaphone. The image is a graphic for the Reagan-Udall Foundation for the FDA. It features a quote about stakeholder engagement in therapy development. The lower section has a headshot of Susan C. Winckler, CEO of the foundation, with her name and title. A logo and text reading "Rare Advocacy Spotlight" are at the bottom. The colors are predominantly purple and blue. The image features a quote about the importance of expanded access to investigational medicines for people with rare diseases. The text mentions its critical value when few treatments exist. Below the quote, there is a photo of Lea Ann Browning-McNee, listed as the Director of Communication and Stakeholder Engagement at the Reagan-Udall Foundation for the FDA. The lower section displays the "Rare Advocacy Spotlight" with a stylized logo.
February 12, 2026 at 7:17 PM
rarediseaseadvisor.bsky.social
We’re excited to spotlight the Reagan-Udall Foundation for the FDA and share a closer look at their strategic framework 🔍

Watch to explore their:
✨ Mission
🌎 Vision
🏛️ Strategic pillars
🤝 Core values

Learn more: https://reaganudall.org/rare-disease

#RareAdvocacySpotlight #RareDisease
February 12, 2026 at 5:50 PM
rarediseaseadvisor.bsky.social
🦓 The Reagan Udall Foundation plays a unique role in public health.

The Foundation helps FDA regulators, patients, clinicians, researchers & industry better understand each other, especially in #RareDiseases where uncertainty is common.

👉 Read the full spotlight: https://bit.ly/4aE2oad
The Reagan-Udall Foundation: Translating the Workings of the FDA
The Reagan-Udall Foundation was built on the premise that FDA regulators work best when they can hear candidly from the groups with whom they work.
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February 12, 2026 at 4:35 PM
rarediseaseadvisor.bsky.social
🌟 This Month’s Rare Advocacy Spotlight: Reagan Udall Foundation for the FDA 🌟

They connect patients, clinicians, researchers & industry to advance collaboration, innovation & patient-centered solutions.

📩 Read & subscribe: https://bit.ly/46EroM7

#RareAdvocacySpotlight #RareDisease
Rare Advocacy Spotlight: Reagan-Udall Foundation for the FDA
Highlighting the Reagan-Udall Foundation for the FDA and its impact on rare disease research and clinical trials.
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February 12, 2026 at 3:45 PM
rarediseaseadvisor.bsky.social
Findings published in Pediatric Research suggest that the DNA damage response genes #ETAA1, #TOPBP1, and #ATR are upregulated in Duchenne muscular dystrophy (#DMD).

Learn more: https://bit.ly/4ks8UnE

#RareDisease #DuchenneMuscularDystrophy #MedSky
DNA Damage Response Gene Upregulation May Predict Disease Severity in DMD
In DMD, expression of the DNA damage response genes ETAA1, TOPBP1, and ATR correlates with severity, pointing to their potential as a biomarker panel.
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February 11, 2026 at 6:37 PM
rarediseaseadvisor.bsky.social
Using functional capacity measures as anchors can help researchers determine the minimal clinically important difference (#MCID)—a measure of benefit used in clinical trials—for common cognitive tests in #HuntingtonDisease (HD).

Read more: https://bit.ly/45YbNa6

#RareDisease #MedSky
Functional Tests Can Aid in Interpreting Cognitive Changes in Huntington Disease
Using common HD functional tests as anchors can help researchers determine when changes on cognitive measures are clinically significant.
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February 11, 2026 at 5:53 PM
rarediseaseadvisor.bsky.social
#Avapritinib produced deep and durable clinical benefit with prolonged survival in patients with #AdvSM, with low rates of disease progression over more than 4 years of follow-up and a favorable benefit-risk profile. @bloodadvances.bsky.social

Read here: https://bit.ly/4tAWezk
Avapritinib Delivers Durable Survival Gains in Advanced Systemic Mastocytosis
Avapritinib produced deep, durable responses in advanced systemic mastocytosis (SM) with a 73% ORR and median OS of 62 months at 4 years.
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February 11, 2026 at 4:48 PM
rarediseaseadvisor.bsky.social
A study demonstrated links between reduced mitochondrial #TK2 expression and both #Neuroinflammation and #Seizure susceptibility. The findings potentially provide a biological basis for CNS involvement in #TK2d

Learn more: https://bit.ly/4rG4Gvh

#InternationalEpilepsyDay #RareDiseaseMonth
Reduced Mitochondrial TK2 Linked to Neuroinflammation and Seizures
Reduced TK2 drives neuroinflammation and seizure susceptibility, offering a plausible mechanistic explanation for CNS symptoms in TK2d.
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February 10, 2026 at 10:00 PM
rarediseaseadvisor.bsky.social
Caregivers observed clinically meaningful improvements in executive functioning (EF) in a greater percentage of adults with Lennox-Gastaut syndrome (#LGS) receiving #Fenfluramine compared with those receiving placebo.

Read more: https://bit.ly/3No00eL

#InternationalEpilepsyDay #RareDiseaseMonth
Fenfluramine May Improve Executive Functioning in LGS, Showing Benefit Beyond Seizure Control
Adult patients with LGS taking fenfluramine showed meaningful improvement in measures of executive functioning.
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February 10, 2026 at 9:00 PM
rarediseaseadvisor.bsky.social
📚 Quiz Time: Test Your Knowledge About the Epidemiology of LGS

Take the full quiz and find the answers here ➡️: https://bit.ly/3MBo11J

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#LennoxGastautSyndrome #EpilepsyDay #RareDiseaseMonth
Test Your Knowledge About the Epidemiology of LGS - Rare Disease Advisor
Which of the statements below about the epidemiology of Lennox-Gastaut syndrome (LGS) are correct? Select one of the options for each question, then
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February 10, 2026 at 8:30 PM
rarediseaseadvisor.bsky.social
Vagus nerve stimulation (#VNS) is an effective adjunctive therapy for children and adolescents with treatment-resistant epilepsy disorders such as Lennox-Gastaut syndrome (#LGS) or Dravet syndrome (#DS).

Read more: https://bit.ly/4jX52Lg

#InternationalEpilepsyDay #RareDiseaseMonth
Vagus Nerve Stimulation Effective in Severe Epilepsies Such as LGS
Vagus nerve stimulation reduces seizure frequency and status epilepticus incidence, even in treatment-resistant disorders such as LGS.
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February 10, 2026 at 8:00 PM
rarediseaseadvisor.bsky.social
📚 Quiz Time: Test Your Knowledge About the History of Dravet Syndrome

Take the full quiz and find the answers here ➡️: https://bit.ly/4ajIUq4

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#DravetSyndrome #EpilepsyDay #RareDiseaseMonth
Test Your Knowledge About the History of Dravet Syndrome - Rare Disease Advisor
Which of the statements below about the history of Dravet syndrome (DS) are correct? Select one of the options for each question, then submit your answers
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February 10, 2026 at 7:30 PM
rarediseaseadvisor.bsky.social
Structural brain magnetic resonance imaging (#MRI) abnormalities are common in SCN1A-associated #DravetSyndrome (DS) and other SCN-related epilepsies. Study in Frontiers in Neurology

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

#InternationalEpilepsyDay #RareDiseaseMonth #Epilepsy
MRI Abnormalities May Be More Common Than Thought in SCN1A-Associated DS
Among patients with DS caused by SCN1A mutations, believed to be radiologically silent, 31.6% had structural brain MRI abnormalities.
www.rarediseaseadvisor.com
February 10, 2026 at 7:00 PM