Marco Meglio

Donovan Decker, recipient of the 2025 MDA Legacy Award for Community Impact and Research, discussed his powerful journey as a patient advocate and gene therapy pioneer, shedding light on challenges and progress in LGMD.

Michael Flanagan, PhD, the chief scientific officer at Avidity, discussed the function and mechanism of the investigational antisense treatment, which is in development for DMD amenable to exon 44 skipping.

The chief scientific officer at Avidity Biosciences discussed the function and mechanism of the investigational antisense treatment, which is in development for DMD amenable to exon 44 skipping.

The findings were presented at the 2025 Muscular Dystrophy Association Clinical & Scientific Conference

Adverse events related to the gene therapy itself were mild or moderate, with most occurring in the first 90 days posttreatment.

John Brandsema, MD, a pediatric neurologist in the Division of Neurology at Children’s Hospital of Philadelphia, offered insights into the obstacles the clinical community is facing around integrating gene therapies into clinical practice.

The pediatric neurologist at Children’s Hospital of Philadelphia offered insights into the obstacles the clinical community is facing around integrating gene therapies into clinical practice.

Following up on Rare Disease Day, observed on February 28, Mary Schroth, MD, FAAP, FCCP, chief medical officer at Cure SMA, shared insights on the advances and promise for treating spinal muscular atrophy.

In honor of Rare Disease Day, observed this year on February 28, Amber Freed, the founder of SLC6A1 Connect, shared thoughts on advocacy and efforts to raise awareness for rare genetic disease SLC6A1.

Mind Moments®, a podcast from our sister site NeurologyLive®, held an exclusive interview with Jonathan Parker, MD, PhD.

The noninvasive gene therapy exceeded the 30% efficacy threshold for normalizing GCase activity across all doses.

LX1001's safety profile was characterized as well-tolerated with no amyloid-related imaging abnormalities reported.

The therapy is being developed for the treatment of patients with progressive MS who have imaging evidence of ongoing inflammatory tissue injury and who are HLA-DRB1*15:01 positive.

In the phase 3 EMBARK trial, treatment with SRP-9001 improved secondary outcomes of time to rise, microdystrophin expression, and 10-meter walk/run.

Avidity is currently enrolling in the phase 3 HARBOR trial, which it expects to initiate in the second quarter of 2024.

Significant improvements in ON time without troublesome dyskinesia were reported with the cell therapy after 1 year, with more apparent effects observed in the high-dose group.

Data from a multiple-ascending dose study suggest the investigational agent developed by Design Therapeutics was generally well tolerated with dose-related increases in frataxin levels.

In November 2022, BrainStorm received a refusal to file letter from the FDA for the biologics license application of NurOwn.

All dose-escalation patients withdrew from enzyme replacement therapy (ERT) and remain off ERT.

BrainStorm received indication from the FDA that it is able to request a Type A meeting to discuss the content of the refusal to file letter.

The gene therapy received a positive CHMP opinion in May 2022.

The approval came earlier than the recently extended PDUFA date of July 24, 2022.

Sarepta also presented updated data from Study 101 of SRP-9001 at MDA 2022.

Patients demonstrated a median reduction of 63.5% in CSF NfL levels 6 months after treatment.

Autologous adipose stem cell data in a small cohort provides a feasibility for future validation studies.

ALSFRS-R and FVC values were stable 3 months after treatment but significantly decreased 6 months after treatment, warranting further investigation.

From baseline, all participants showed improvements on CGI-Improvement scale scores while all but 1 patient demonstrated improvement on modified Hoehn and Yahr scores.

The cell therapy is set to be evaluated in a 2-part, phase 1/2 trial.

Tofersen failed to meet its primary end point in change from baseline in ALSFRS-R but differences in total cerebrospinal fluid SOD1 protein and neurofilament light chain were observed.

Newly published data continues to demonstrate Zolgensma's efficacy in presymptomatic and symptomatic SMA Type 1.