3D medical illustration showing human lungs and respiratory tract within a transparent upper torso.

Pompe disease is a rare genetic disorder that causes sugar to build up in cells, damaging muscles.

New research in JNP identifies a breathing “signature” that may reveal early signs of the disease's progression: https://ow.ly/Xe6g50Yv007 APS Publications #ArticlesInPress #PompeDisease 🧪
📷: iStock

Shionogi Enrolls First Patients in Phase 2 Trial of S-606001 for Late-Onset Pompe Disease Shionogi announced the enrollment of the first patients in Esprit, a global phase 2 trial evaluating S-606001 for late-onset Pompe disease.

@shionogiincus.bsky.social announced via news release that the first patients have been enrolled in a global phase 2 #ClinicalTrial evaluating S-606001, an investigational oral substrate reduction therapy (#SRT) for late-onset #PompeDisease.

Read more: https://bit.ly/480ixVB

#RareDisease #MedSky

A quote from a Rare Disease Advisor conference. The quote discusses the growth in academic research on Pompe disease since 1998, when only three researchers were focused on it. Now, there are over two dozen globally. On the right, there's a person identified as John Crowley, President and CEO of the Biotechnology Innovation Organization, and former CEO of Amicus Therapeutics.

#MDAConference: John Crowley, father of two kids with #Pompe and former CEO of Amicus Therapeutics. Crowley, now president and CEO of the @biotechnology-bio.bsky.social, spoke March 9 at the @mda.org's 2026 Clinical & Scientific Conference.

#RareDisease #MuscularDystrophy #PompeDisease

The image is a graphic titled "Financial assistance for 25+ rare diseases." It lists diseases under categories: Autoimmune, Blood disorders, Endocrine disorders, Eye diseases, Gastrointestinal diseases, Hepatic, Metabolic, Musculoskeletal diseases, and Neurological disorders. Notable mentions include Myasthenia gravis, Myelodysplastic syndrome, Cushing's disease, Hypertrophic cardiomyopathy, and Spinal muscular atrophy. A note states that a premium fund is also available. The image has a purple gradient background.

Rare Disease Day is this Saturday, and we’re proud of the 25+ #RareDisease funds we support 🦓

We have multiple rare disease funds that are currently open—including #MyastheniaGravis, #PompeDisease, and #SpinalMuscularAtrophy.

Explore our open funds: https://bit.ly/3e5B723

#MedSky

New insights from #WORLDSymposia 2026 are shaping how we think about #LysosomalDiseases. Our latest research update explores how early biomarker and symptom patterns in newborn‑screened infants may help guide #PompeDisease treatment decisions #MedSky

ow.ly/5X7Q50YgCLc

Early Data Show Biomarker Reductions, Good Safety for ABX1100 in Late-Onset Pompe Disease ABX1100 administration led to sustained knockdown of GYS1 mRNA in muscle tissue and reductions in late-onset Pompe disease biomarkers.

@arobiotx.bsky.social announced positive interim results from a phase 1b study of #ABX1100 for the treatment of late-onset #PompeDisease.

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

#RareDisease #LateOnsetPompeDisease #MedSky

‘They killed him inside’: man who was son’s caretaker detained by ICE and denied final goodbye Wael Tarabishi, who has a lifelong muscle disorder, died after Maher, his father and primary caretaker, was detained

Wael Tarabishi, who has #PompeDisease, a lifelong muscle disorder, died after Maher, his father and primary caretaker, was detained. They won't even let his father attend his funeral. These people are monsters. #FuckICE #ICEout #MDA

Disabled son died after ICE arrested father & primary caretaker,

Credit: @aaronparnas.bsky.social | Source

#ICE #ICECasualty #Humanity #PompeDisease

Earlier ERT = better hearts 🫀
In infantile-onset Pompe disease, starting ERT ≤1 month leads to faster LVMI normalisation and improved cardiac remodelling.
Another strong case for newborn screening and rapid treatment.
🔗 doi.org/10.1002/jmd2...

#PompeDisease #IMD #NewbornScreening

Early #enzymereplacementtherapy in infantile-onset #Pompedisease improves survival and motor outcomes, but patients remain at risk for antibody development, highlighting the need for inducing and maintaining immune tolerance. bit.ly/4bQbzoV #GIMO #NewbornScreening

AB-1009 Gene Therapy Enters Clinical Trials for Late-Onset Pompe Disease The FDA has cleared AB-1009, an AAV-based gene therapy for late-onset Pompe disease, for phase 1/2 clinical trials.

AB-1009, an adeno-associated virus-based investigational gene therapy for late-onset #PompeDisease, has advanced to phase 1/2 clinical testing in the United States, AskBio announced.

Read more: https://bit.ly/4r3ArhA

#RareDisease #GeneTherapy #AB1009 #ClinicalTrial #LOPD

New Gene Therapy for Pompe Disease in China: A One-Time Cure? | MedBridgeNZ Discover the NEJM-published breakthrough: A one-time gene therapy for Pompe Disease available in China. As your trusted medical concierge provider, MedBridgeNZ connects you to top Medical Tourism China opportunities. Learn more.

New hope for "floppy baby syndrome"! A groundbreaking gene therapy for Pompe Disease in China offers a potential one-time cure.

Read more: zurl.co/1iNg2

#PompeDisease #GeneTherapy #China #MedicalConcierge #MedBridgeNZ #MedicalTourismChina #ChinaMedicalTourism

🧠 Patience takes practice

Bruce Campbell, Pompe contributor, shares how living with #PompeDisease has taught him to actively listen to his body and to respect its limits.

Read Bruce's story ➡️: https://bit.ly/4j22n2m

#RareDisease #PatientPerspective #RareVoices #PompeStrong

An Interview With Dr. Barry Byrne, Director of the UF Powell Gene Therapy Center Barry Byrne, MD, PhD, is an expert on Pompe disease and chief medical advisor to the Muscular Dystrophy Association.

Larry Luxner, senior correspondent, interviews Barry Byrne, MD, PhD, an expert on #PompeDisease, director of the @ufresearch.bsky.social Powell Gene Therapy Center, and Chief Medical Advisor to the @mda.org

🎙️ Listen to the podcast here: https://bit.ly/494CQlK

#RareDisease #MedSky #GeneTherapy

💓 What “romanticizing” your life looks like with a rare disease…

#PompeDisease contributor Keyana Sullivan shares how she finds beauty in small moments while navigating daily challenges.

📖 Read more from Keyana: https://bit.ly/48DAWqY

#RareDisease #RareVoices #PompeStrong

🚵 Bruce Campbell, Pompe Disease contributor, reflects on racing a 7-day gravel stage race spanning 800 kilometers and 11,000 meters of elevation and how it pushed him to new lengths.

Read Bruce’s full story: https://bit.ly/3KolrLm

#RareDisease #PatientVoices #PompeDisease

ICE detains Texas father as son’s health declines: ‘Don’t forget about me’ Maher Tarabishi was arrested at a routine visit despite decades in the US, leaving his son with Pompe disease

#Texas #ice #trump #noem #dhs #stephenmiller #Pompedisease #FatherAndSon

The Guardian:

ICE detains Texas father as son’s health declines: ‘Don’t forget about me’ www.theguardian.com/us-news/2025...

South America Pompe Disease Treatment Market Size, Growth Report 2035 South America Pompe Disease Treatment Market is expected to grow from 263.9(USD Million) in 2024 to 551.2 (USD Million) by 2035. The South America Pompe Disease Treatment Market CAGR (growth rate) is ...

🧬 South America Pompe Disease Treatment Market grows with advances in enzyme therapy. Full insights: www.marketresearchfuture.com/reports/sout... #SouthAmerica #PompeDisease

South America Pompe Disease Treatment Market Size, Growth Report 2035 South America Pompe Disease Treatment Market is expected to grow from 263.9(USD Million) in 2024 to 551.2 (USD Million) by 2035. The South America Pompe Disease Treatment Market CAGR (growth rate) is ...

New therapies shape South America’s Pompe Disease Treatment Market. 🧬💉 www.marketresearchfuture.com/reports/sout... #PompeDisease #RareDisease

Second-tier (Cr/Crn)/GAA ratio improves PPV of #PompeDisease #NewbornScreening but can it predict disease onset? bit.ly/47nZlBy

💬 In her latest column, Keyana Sullivan, Pompe Disease Contributor, shares the emotional and physical challenges of adapting to muscle deterioration—and the strength it takes to keep moving forward.

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

#RareDisease #PompeDisease #RareSky

#ASHG2025: Roberto Araujo, MD, PhD, Senior North America Medical Director for #Fabry and #Pompe disease at Sanofi, speaking Oct. 15 at the @geneticssociety.bsky.social 2025 conference in Boston.

#RareDisease #FabryDisease #PompeDisease #Sanofi #MedSky #RareSky

Fighting Pompe is a Personal, Lifelong Endeavor - Rare Disease Advisor When you live with Pompe disease, the word strength takes on a whole new meaning.

🫁 “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

Late onset Pompe disease (#LOPD) often shows subtle symptoms that delay diagnosis and treatment. Watch this program for insights on earlier recognition, new therapies, and better outcomes.

👉 bit.ly/4pd3YFv

With @nordrare.bsky.social

#PompeDisease #RareDisease

Subtle signs of #LOPD can delay diagnosis and care. Hear from experts, a nurse practitioner & a patient on therapies, diagnostic tips & team strategies.

📅 Launching Sept 11 – get reminded here: bit.ly/4mMn6Zh

#PompeDisease #RareDisease

This #InternationalPompeDay, head over to our YouTube channel to watch Professor Benedikt Schoser discuss the importance of looking beyond the core phenotype of #LOPD and understanding the associated psychological and emotional burden #MedSky #medicaleducation #PompeDisease

ow.ly/g7bT50VAGPE

GeneVentiv Sets Milestone with Global License for Novel Gene Editing Therapy in Pompe Disease Treatment GeneVentiv Therapeutics has secured a groundbreaking global licensing agreement for GENV-002, a universal gene editing therapy for Pompe disease, promising new hope for patients.

GeneVentiv Sets Milestone with Global License for Novel Gene Editing Therapy in Pompe Disease Treatment #United_States #Raleigh #GeneTherapy #GeneVentiv #PompeDisease

Screenshot of Figure 1: Decrease in biomarker levels upon transitioning from alglucosidase alfa to avalglucosidase alfa. A. CK levels during transition and at the latest assessment. The levels decreased in all patients. B. uGlc4 levels during transition and at the latest assessment. The levels decreased in all patients. CK, creatine kinase; uGlc4, urine glucose tetrasaccharide.

Ready to switch? Transitioning from alglucosidase alfa to avalglucosidase alfa improves biomarker levels and motor function in infantile-onset #PompeDisease bit.ly/41Zyjxs

A stable GH31 α-glucosidase as a model system for the study of mutations leading to human glycogen storage disease type II GH31 glycosidases are widespread across organisms, but remarkably, less than 1% of them have been biochemically characterised to date. Among them, human lysosomal acid α-glucosidase (GAA) stands ou...

Our latest paper is out!
We explored MalA, a hyperthermostable GH31 α-glucosidase, as a model to study Pompe disease mutations & chaperone therapy.

Check it out: www.tandfonline.com/doi/full/10....

#PompeDisease #Biochemistry #Glycosidases #EnzymeTherapy #Extremozymes #CAZymes

Exploring Quality of Life in Adults Living With Late-onset Pompe Disease: A Combined Quantitative and Qualitative Analysis of Patient Perceptions from Australia, France, Italy, and the Netherlands | P... By Holly Lumgair, Lisa Bashorum & 9 more. This study investigates how self-reported status of late-onset Pompe disease relates to quality of life and characterizes participant experiences, including m...

New study in JHEOR offers insights into the multiple ways that late-onset Pompe disease affects patient quality of life.

jheor.org/article/126018 #heor #rarediseases #pompedisease #qualityoflife