Rare Disease Advisor

Case Study: SM Can Mimic Metastatic Disease Through Diffuse Osteoblastic Bone Lesions A case report highlights the rare instances where aggressive SM can mimic metastatic disease through a presentation of bone lesions.

#SystemicMastocytosis (SM) can sometimes present as diffuse osteoblastic bone lesions and mimic #MetastaticCancer. Case report in European Journal of Case Reports in Internal Medicine.

Learn more: https://bit.ly/4ua0rdg

#RareDisease #MedSky

Monthly CAM2029 Maintains Stable and Extended Acromegaly Control CAM2029 maintained biochemical and symptom control in acromegaly across a 4-week dosing interval, including delays beyond 28 days.

#CAM2029 maintained stable biochemical and symptom control throughout a 4-week dosing interval in patients with #Acromegaly, including among those whose assessments occurred more than 28 days after dosing.

Learn more: https://bit.ly/46zeUp9

#RareDisease #MedSky

Stem Cell Transplantation Preserves Long-Term Cardiac Function in Pediatric Sickle-Cell Disease Pediatric patients with SCD who receive hematopoietic cell transplants generally show stable to improved long-term cardiac function.

After allogeneic hematopoietic cell transplantation (#HCT), pediatric patients with sickle cell disease (#SCD) show overall stable to improved cardiac function. Reported in Transplantation and Cellular Therapy @astct.bsky.social

Read more: https://bit.ly/4b7bxXI

#RareDisease #SickleCellDisease

Early Efgartigimod Juvenile MG Trial Results: Safety, Efficacy Similar in Adolescents and Adults Phase 2/3 ADAPT JR interim results suggest efgartigimod is safe and active in adolescents with AChR-positive juvenile MG.

Interim results from the #ADAPT JR trial demonstrate that intravenous #Efgartigimod is safe, well tolerated, and pharmacodynamically active in adolescents with #AChR antibody-positive generalized myasthenia gravis (#MG). @mda.org #MDAConference

Read more: https://bit.ly/4bbT4cE

#MyastheniaGravis

AKRiS: An Accurate Tool for Predicting Long-Term Risk for Renal Failure in AAV The Improved ANCA Kidney Risk Score (AKRiS) was best able to differentiate long-term risk for renal failure across all categories, per new research.

Kaplan-Meier analysis demonstrated statistically significant differences among the 4 risk categories with use of the Improved #ANCA Kidney Risk Score (P <.001). @senefrologia.bsky.social

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

#RareDisease #MedSky

Agent Orange Exposure Linked to Genetic Complexity and Progression in MDS AO exposure was associated with greater mutational burden, higher-risk cytogenetics, and increased risk of disease progression in MDS.

Exposure to #AgentOrange may be associated with distinct molecular characteristics and a higher risk of disease progression in patients with myelodysplastic syndromes (#MDS). Report in @bloodjournals.hematology.org

Read more: https://bit.ly/4rlgX7R

#RareDisease #MyelodysplasticSyndromes #MedSky

Z-Rostudirsen for DMD May Improve Muscle Function, With Signals of Cardiopulmonary Benefit Data from the DELIVER trial of z-rostudirsen in DMD showed sustained improvement in muscle function and potential cardiopulmonary benefit.

#DYNE251, an investigational exon 51-skipping therapy, provides sustained improvements in muscle function and potentially preserves #Cardiopulmonary function in patients with #DMD. Data to be presented at the 2026 @mda.org #MDAConference

Learn more: https://bit.ly/46C0ZyI

#RareDisease #MedSky

Extended STEER Results: Continued Motor Gains With IT Onasemnogene Abeparvovec in SMA STEER trial 64-week data suggest intrathecal OAV101 provides sustained and progressive motor function improvement in children with SMA.

Extended 64-week data from the #STEER trial suggest a single dose of #OAV101 IT provides sustained, progressive motor function improvement in children and adolescents with #SMA. Data to be presented at the 2026 @mda.org #MDAConference

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

#RareDisease #MedSky

Seralutinib's Phase 3 PAH Trial Demonstrates Improvement Despite Missing Key Threshold The phase 3 PROSERA study found that seralutinib demonstrates clear improvement in patients with PAH, according to a press release.

In the #PROSERA phase 3 study, #Seralutinib demonstrated a placebo-adjusted increase of 13.3 m in the 6-minute walk distance, with more pronounced improvements observed in high-risk subgroups.

Learn more: https://bit.ly/4lb32Qd

#RareDisease #PAH #PulmonaryArterialHypertension #PAH

Routine HRQoL Screening Can Identify Functional Decline in CLL and NHL Functional well-being emerged as the most impaired HRQoL domain in NHL and CLL, despite overall moderate global scores.

Routine integration of #HRQoL assessment into #Hematology practice may identify clinically meaningful deficits in functional well-being among patients with #NHL and #CLL, even when overall quality of life appears acceptable.

Read more: https://bit.ly/3N5Lusb

#RareDisease #Oncology

Half of Patients With NMOSD Have Neuropathic Pain, Often Linked to Thoracic Spinal Cord Lesions Neuropathic pain is highly prevalent in NMOSD, with links to structural spinal cord damage and AQP4-mediated immunopathology.

Neuropathic pain is a highly prevalent yet insufficiently managed complication of neuromyelitis optica spectrum disorder (#NMOSD), according to findings of a recent meta-analysis published in Journal of Clinical Medicine.

Read more: https://bit.ly/47jDOt1

#RareDisease #NeuropathicPain #MedSky

Global mitoSHARE Registry Provides Real-World Data for Mitochondrial Disease Research The UMDF’s global registry, mitoSHARE, provides real-world data to support research into mitochondrial diseases such as TK2d.

The United Mitochondrial Disease Foundation’s global patient-populated registry has enrolled nearly 1600 participants from 58 countries, as the organization will announce at the 2026 @mda.org Clinical and Scientific Conference.

Read more: https://bit.ly/3N7RJvo

#RareDisease #MDAConference #MedSky

Once-Weekly Navepegritide Approved for Children With Achondroplasia Aged 2 or Older The US Food and Drug Administration has approved once-weekly navepegritide for children aged 2 years or older with achondroplasia.

The @fda.gov has approved once-weekly #Navepegritide for children aged 2 years or older with #Achondroplasia, according to an announcement from Ascendis Pharma.

Read more: https://bit.ly/4cr1IGz

#RareDisease #MedSky

HD Gene Therapy AMT-130 Faces Requirement for Large Controlled Trial Before FDA Approval AMT-130, an investigational gene therapy for HD, will likely require a large controlled trial before the FDA will consider it for approval.

AMT-130, an investigational #GeneTherapy for #HuntingtonDisease (HD), will likely require a large controlled trial before it can be considered for approval, uniQure announced.

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

#RareDisease #AMT130 #ClinicalTrial

PHQ-8 Performs Comparably for People With Diffuse and Limited SSc An analysis of the Patient Health Questionnaire did not demonstrate substantial differences in SSc across factors such as sex, age, and language.

Findings from an analysis of the Patient Health Questionnaire did not demonstrate substantial differences in patients with #SystemicSclerosis (SSc) across factors such as sex, age, and language of administration. @acr-journals.bsky.social

Read more: https://bit.ly/4080DMA

#RareDisease #SSc

Survey Shows AI Adoption Is Growing in Transfusion Medicine Nearly half of ISBT members reported personal AI use, with most citing positive impact on transfusion medicine, including FNAIT.

Artificial intelligence (#AI) is gaining traction in transfusion medicine, including applications relevant to fetal and neonatal alloimmune thrombocytopenia (#FNAIT). Study in Vox Sanguinis.

Learn more: https://bit.ly/404ndpl

#RareDisease #MedTech #TransfusionMedicine

Disease Control Reverses Growth Hormone-Driven Fibrosis in Acromegaly Disease control in acromegaly reduced adipose and skeletal muscle fibrosis, supporting reversibility of GH-driven remodeling.

Disease control in #Acromegaly reverses growth hormone (GH)-driven fibrosis in adipose and skeletal muscle tissue, accompanied by marked reductions in systemic collagen turnover and fibroblast activation protein α (FAPα) activity. Research in @eurojendo.bsky.social

Read more: https://bit.ly/4skfI9A

Skyhawk Applies for Provisional Australian Approval of SKY-0515 RNA-Splicing HD Therapy The Australian TGA determined SKY-0515, an oral RNA-splicing therapy for HD, is eligible to apply for provisional approval.

Skyhawk Therapeutics announced that SKY-0515, an investigational oral RNA-splicing therapy for #HuntingtonDisease (HD), has met the eligibility criteria to apply for provisional approval by the Australian Therapeutic Goods Administration.

Read more: https://bit.ly/4cpZeZ6

#RareDisease #SKY0515

High Symptom Burden of NonAdvSM Diminishes Daily Functioning and Well-Being Adults with nonAdvSM in the Summit study reported a high symptom burden that affects daily functioning and emotional well-being.

Adults with nonadvanced systemic mastocytosis (#nonAdvSM) reported a high symptom burden that affects daily functioning and emotional well-being, according to findings from patient entry interviews conducted as part of the Phase 2 #SUMMIT trial of #Bezuclastinib.

Read More: https://bit.ly/4cPNtv4

Case Report: Extensive Skin Tags Serve as Clues to MEN1-Linked Acromegaly Numerous or extensive acrochordons may signal underlying acromegaly or MEN1 and should prompt targeted GH, IGF-1, and insulin testing.

Extensive #Acrochordons may represent a critical cutaneous clue to multiple endocrine neoplasia type 1 (#MEN1) and concomitant #Acromegaly. Case report in The American Journal of Medicine.

Read here: https://bit.ly/4rE0CvY

#RareDisease #MedSky

🦓 Closing #RareDiseaseDay

Thank you for following along today.

Rare Disease Day starts the conversation. It’s up to us to keep it going.

Watch our conversation with Pam Gavin, CEO of @nordrare.bsky.social, on what’s next for rare disease advocacy. 🎥

#RareDisease #PatientAdvocacy

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.

🦓 Rare disease progress depends on research, care, and strong regulatory science.

The Reagan-Udall Foundation supports collaboration around the FDA, bridging gaps between patients, clinicians, researchers, and industry.

🔎 Read this month’s Rare Advocacy Spotlight: https://bit.ly/4aE2oad

Composite image with two sections. Top section: Hands gently clasped, overlaid text about Rare Disease Day emphasizing its importance for awareness and support. Bottom section: A person sitting in front of a microphone, smiling, with text about Conor McAuley, who is described as a disability advocate from Ireland using social media to raise awareness about Duchenne muscular dystrophy.

Image featuring a fundraising message from Rare Disease Advisor about AATD awareness. The left section includes a message about the importance of raising awareness for AATD, with an emphasis on the value of shared experiences. The bottom left corner shows an individual smiling. The right section highlights Alyssa Gloor, detailing her experience with alpha-1 antitrypsin deficiency and her advocacy work. Above, a 'Donate' sign with hands holding a heart is depicted. The background is blue and green.

Image divided into two sections. Top left: Text about a patient with myasthenia gravis discussing Rare Disease Month, presented on a blue background with the "Rare Disease Advisor" logo. It highlights experiences with the rare disease community and medical professionals. Bottom right: Biography of Stefanie Shea-Akers, featuring her photo. The biography mentions her background in English literature, her conditions like myasthenia gravis, and her advocacy work over seven years.

🗣️ Patient Voices in Rare Disease

Three individuals. Three conditions. Three perspectives on Rare Disease Month.

Behind every diagnosis is lived experience.

🔹 https://bit.ly/4sdO12a

🔹 https://bit.ly/3ZYrZon

🔹 https://bit.ly/3OORqpS

#RareDiseaseDay #RareDisease

Caregiver Respite - National Organization for Rare Disorders Get essential support and relief for rare disease caregivers through NORD's respite resources, designed to help manage caregiver stress and improve overall well-being.

🤝 Caregiver burnout in rare disease is real.

Caregivers face complex care demands and emotional strain.

Respite programs from @nordrare.bsky.social provide relief.

On #RareDiseaseDay, supporting patients means supporting caregivers.

🔗 https://bit.ly/4qV7h3v

#RareDisease #CaregiverSupport

Data Reveal Screening Gaps for Rare Disease Mental Health Nearly 40% of US and EU5 clinicians reported not screening rare disease patients for mental health impact despite pervasive distress.

🧠 Mental health screening gaps persist in rare disease care.

New data show higher psychological distress among patients and caregivers, yet routine screening is not consistently integrated into care.

🔗 https://bit.ly/4s9dZE6

#RareDiseaseDay #RareDisease #MentalHealth

🌇 As the sun sets, #LightUpForRare raises visibility for the 300 million people worldwide living with a rare disease.

From landmarks to homes to social feeds, lighting up keeps the conversation visible.

🔗 Learn how to participate: https://bit.ly/4saz15i

#RareDiseaseDay

A quote about gratitude and liver donation, mentioning Jackson as the recipient. The text is attributed to Miranda Gabrielli, ALGS Contributor, for Rare Disease Advisor. The background is dark blue with subtle patterns, and there is an image of a smiling person at the bottom left.

❤️ Six years after her son’s liver transplant for #AlagilleSyndrome, a mother reflects on the donor who made it possible.

February 14 marked National Organ Donor Day. On #RareDiseaseDay, transplant stories remind us what #OrganDonation means.

🔗 https://bit.ly/4tVLFa9

#RareDisease #ALGS

🫀 National Heart Month meets #RareDiseaseDay.

For many rare diseases, cardiac involvement drives progression, shapes diagnosis, and influences long-term outcomes.

#Cardiology is not secondary. It is essential to care.

#NationalHeartMonth #RareDisease #MedicalNews

World Cancer Day: United by Unique in Rare Cancer Care Honoring World Cancer Day 2026 with expert insights on rare cancers, patient resources, and advocacy efforts.

🌍 Flashback to #WorldCancerDay and this year’s theme “United by Unique.”

#RareCancers remind us that no two cancer journeys are the same. Patient-centered care and clinician insight remain essential across #Oncology and #RareDisease.

🔗 https://bit.ly/4tXPn2O

#RareDiseaseDay

🎗️ February marked Gallbladder & Bile Duct Cancer Awareness Month, highlighting #Cholangiocarcinoma.

Often diagnosed at advanced stages, with limited early detection.

#RareCancers remain part of the broader #Oncology landscape.

🔗 https://bit.ly/3KQY0tS

#RareDiseaseDay #RareDisease