Rare Disease Advisor

#MDAConference: Anjan Aralihalli, Founder of Raya Therapeutic, Inc., and Member of the Board of Directors at Muscular Dystrophy Association speaking at the @mda.org's 2026 Clinical & Scientific Conference in Orlando, FL.

Watch the interview here 🎥

#RareDisease #MedSky

#MDAConference: Barry Byrne, MD, PhD, Gene therapy expert and Board Member of the @mda.org, speaking at the MDA’s 2026 Clinical & Scientific Conference in Orlando, FL.

Watch the interview here 🎥

#RareDisease #MuscularDystrophy #GeneTherapy

#SMACongress2026: Alessandro Usiello, PhD, Professor of Clinical Biochemistry at the University of Campania Luigi Vanvitelli in Caserta, Italy. Dr. Usiello spoke March 13, 2026, at the 5th International Scientific Congress on SMA (@sma-europe.bsky.social) in Budapest, Hungary.

#RareDisease #MedSky

#MDAConference: Lily Sander, 18, @mda.org’s 2026 National Ambassador, who introduced Allison Moore, Founder and CEO of the Hereditary Neuropathy Foundation, and winner of the 2026 MDA Legacy Award for Achievement in Clinical Research.

Watch the video here 🎥

#RareDisease #MedSky

#MDAConference: Sharon Hesterlee, MD, President and CEO of the Muscular Dystrophy Association, opening the @mda.org's 2026 Clinical & Scientific Conference in Orlando, FL.

Watch the video here 🎥

#RareDisease #MedSky #MuscularDystrophy

Recognizing Rare Blood Group Mismatches Important for Diagnosing HDFN In neonates who present with unexplained anemia and hyperbilirubinemia, immunohematologic evaluation is key for diagnosing possible HDFN.

Among neonates who present with unexplained #Anemia and #Hyperbilirubinemia, individualized immunohematologic evaluation is essential for diagnosing hemolytic disease of the fetus and newborn (#HDFN). Published in @cureusmedical.bsky.social

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

Strong Response Rate for Claseprubart in CIDP Supports Continuing to Controlled Phase of Trial Dianthus Therapeutics announced promising early results for claseprubart, a next-generation C1s inhibitor designed to treat CIDP.

Dianthus Therapeutics announced an early “go” decision for #Claseprubart for the treatment of chronic inflammatory demyelinating polyneuropathy (#CIDP).

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

#RareDisease #ClinicalTrial #CAPTIVATE

Older Age at NMOSD Onset Accelerates Disability but Does Not Affect Relapse Risk In AQP4-IgG-positive NMOSD, age at onset does not affect relapse risk, but later onset is linked to faster disability progression.

In patients with aquaporin-4 immunoglobulin G (AQP4-IgG) antibody-positive neuromyelitis optica spectrum disorder (#NMOSD), age at disease onset does not significantly influence relapse risk. Study in Neurology (@aanmember.bsky.social)

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

#RareDisease #Neurology

The 16 Minute Challenge: Connecting With Patients in Limited Time Dr. Gramszlo encouraged clinicians to embrace silence rather than rushing to start a new conversation or feeling uncomfortable with it.

#MDAConference: Connecting with patients is crucial and strategic despite the severely limited time available during a visit, according to presenters at the 2026 @mda.org Clinical and Scientific Conference.

Read here: https://bit.ly/4sC97rc

#RareDisease #MuscularDystrophy

#MDAConference: Craig McDonald, MD, Director of the Neuromuscular Disease Clinic at @ucdavishealth.bsky.social, speaking about @sarepta.com's gene therapy delandistrogene moxeparvovec-rokl (#Elevidys) for #Duchenne at the @mda.org's 2026 Clinical & Scientific Conference in Orlando, FL.

#MDAConference: Barry Byrne, MD, PhD, Gene therapy expert and Board Member of the @mda.org, speaking at the MDA’s 2026 Clinical & Scientific Conference in Orlando, FL.

#RareDisease #MuscularDystrophy #Duchenne

Ethical Challenges in Newborn Screening Remain Unresolved As technology advances, questions arise regarding how extensive newborn screening should be.

#MDAConference: Although a newborn screening program exists in every US state, many ethical concerns raised by them remain unresolved, experts said at the 2026 @mda.org Clinical and Scientific Conference.

Learn more: https://bit.ly/3P4wUSn

#RareDisease #NewbornScreening

#MDAConference: Mark Awadalla, Chief Development Officer at Capricor Therapeutics, speaks with Rare Disease Advisor at the @mda.org's 2026 Clinical & Scientific Conference in Orlando, FL, about #Deramiocel—an investigational, allogenic cell therapy to treat #DMD

Watch the interview here 🎥

Corticosteroid Regimens Evolve While Remaining Central to DMD Treatment "Steroids remain the cornerstone of treatment despite all of the exciting treatments," Dr. Saylam said.

#MDAConference: Corticosteroid treatment for Duchenne muscular dystrophy (DMD) continues to evolve, as new regimens show significant benefits, an expert reported at the 2026 @mda.org Clinical and Scientific Conference.

Read more: https://bit.ly/4s36M8S

#RareDisease #DuchenneMuscularDystrophy

#MDAConference: Natalie Truba, PhD, Clinical Psychologist at @nationwidekids.bsky.social in Columbus, Ohio, speaking at the @mda.org's 2026 Clinical & Scientific Conference in Orlando, FL.

#RareDisease #MuscularDystrophy #MedSky

#MDAConference: Kathryn Wagner, MD, PhD, Professor Emerita of the Johns Hopkins University School of Medicine in Baltimore, speaking at the @mda.org's 2026 Clinical & Scientific Conference in Orlando, FL.

#RareDisease #MuscularDystrophy

#MDAConference: Mark Awadalla, Chief Development Officer at Capricor Therapeutics, speaking at the @mda.org's 2026 Clinical & Scientific Conference in Orlando, FL, about deramiocel—an investigational, allogenic cell therapy to treat DMD.

#RareDisease #MuscularDystrophy #Deramiocel #Duchenne

Noncanonical LeuRS Function Offers New Avenue for DMD Treatment "Inhibiting LeuRS may not directly affect muscle regeneration but rather reduce degeneration through restored autophagy," Dr. Chen said.

#MDAConference: Leucyl-tRNA synthetase (#LeuRS) may represent a new therapeutic target for improving muscle quality and strength in Duchenne muscular dystrophy (#DMD) through its noncanonical function in autophagy regulation. @mda.org

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

FDA Addresses Criticism Over Inconsistent Evaluations of Rare Disease Trial Endpoints Due to differences in the nature of products overseen by CDER and CBER, they may vary in their approval of the same trial endpoint.

#MDAConference: The @fda.gov faces criticism over inconsistencies in trial evaluations for rare disease therapies across its 2 divisions, the Center for Drug Evaluations and Research and the Center for Biologics Evaluation and Research. @mda.org

Read here: https://bit.ly/4by56hU

Clinical Trials Exploring Multiple Frataxin Restoration Strategies in Friedreich Ataxia Three clinical trials are investigating various approaches to restoring frataxin.

#MDAConference: Ongoing trials are investigating the potential of restoring the #Frataxin protein in individuals with #FriedreichAtaxia (FA), despite the challenges this therapeutic approach presents. @mda.org

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

✨ Exciting news! Our editorial team is a Northeast regional finalist in the 2026 Azbee Awards for their 2025 coverage of the #MDAConference.

👏 Larry Luxner, Brian Murphy, Riya Ajmera, Stephan Cho, Terri Airov, Michael Nace

Check out our 2026 Coverage: https://bit.ly/4roNTMD

#MDAConference: Edward Neilan, Chief Medical and Scientific Officer at @nordrare.bsky.social, speaking at the @mda.org's 2026 Clinical & Scientific Conference in Orlando, FL.

#RareDisease #MuscularDystrophy #AI #MedTech

#MDAConference: Tim Miller, MD, Global Head of Scientific and Therapeutic Development at @thermofishersci.bsky.social, speaking at the @mda.org's 2026 Clinical & Scientific Conference in Orlando, FL.

#RareDisease #MuscularDystrophy #AI

#MDAConference: Jamie Moore, MD, Medical Director of the Pediatric Obesity Program at @childrenscolo.bsky.social, speaking about diet and neuromuscular disease at the @mda.org's 2026 Clinical & Scientific Conference in Orlando, FL.

#RareDisease #NeuromuscularDisease #Obesity

#MDAConference: Abby Bronson, VP of Patient Advocacy at Edgewise Therapeutics, speaking Mar. 9 at the @mda.org's 2026 Clinical & Scientific Conference about efforts to reach out to patients with #Becker as a disease distinct from #Duchenne.

#RareDisease #MuscularDystrophy

#MDAConference: Christopher Lewis, son of the late entertainer Jerry Lewis, who would have turned 100 on March 16, 2026. The younger Lewis was at the @mda.org's 2026 Clinical & Scientific Conference in Orlando, FL.

#RareDisease #MuscularDystrophy

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.

#MDAConference: 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 #MyastheniaGravis (MG). @mda.org

Read more: https://bit.ly/4rh8dzp

Pooled Analysis Suggests Manageable Safety for Delandistrogene Moxeparvovec in DMD A pooled analysis suggests manageable safety for delandistrogene moxeparvovec in DMD, with most adverse events occurring early.

#MDAConference: A pooled safety analysis based on data from phase 1 through phase 3 #ClinicalTrials of delandistrogene moxeparvovec suggests a manageable safety profile in ambulatory patients with Duchenne muscular dystrophy (#DMD). @mda.org

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

Analysis Estimates Global TK2d Prevalence, Identifying Population-Specific Differences TK2d is an ultrarare but measurable genetic disease worldwide, with an estimated prevalence of up to 2.82 per million pregnancies.

#MDAConference: Thymidine kinase 2 deficiency (#TK2d) is an ultrarare but measurable genetic disease worldwide, according to estimates set to be presented at the 2026 @mda.org Clinical and Scientific Conference.

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

#RareDisease #MedSky

#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