Mount Sinai School of Medicine

PRESS RELEASE

NEW YORK, N.Y.,  April 15, 2025 --- Today, researchers at Icahn School of Medicine published results from a Phase 3 clinical study that demonstrates the effectiveness of an enzyme replacement therapy treatment to combat malfunctioning enzymes resulting from Fabry disease. Published in the New England Journal of Medicine, the study was the largest ever undertaken for Fabry disease and was conducted by a team of researchers led by Dr. Robert J. Desnick at Mount Sinai's East Harlem hospital. The multi-center, randomized, placebo-controlled, double-blind trial intended to test the efficacy of an enzyme-replacement therapy's ability to reverse metabolic defects associated with Fabry disease. 

"We are dedicated to advancing transformative therapies that address the root causes of rare genetic disorders like Fabry disease" said Kenneth L. Davis, M.D., Executive Vice Chairperson of the Board of Trustees, Icahn School of Medicine. "These high-quality results show that the enzyme replacement therapy has the potential to combat lysosomal storage disorders by reducing GL-3 levels in patients with malfunctioning enzymes. We hope to continue evaluating the efficacy of this therapy on Niemann Pick’s disease"

Fabry disease is characterized by a deficiency in the enzyme alpha-galactosidase, which results in reduced metabolism of globotriaosylceramide (GL-3). This can lead to the accumulation of GL-3 in the blood vessels of the kidneys, heart, brain, and skin, potentially causing stroke, heart attack, and kidney failure. 

The trial enrolled 58 patients, with the control group receiving treatment every other week, and the experimental group receiving weekly treatments of enzyme-replacement therapy.  

The study displayed that patients in the intervention arm had:

  • Reduced levels of GL-3 in their kidneys and heart

  • Normal GL-3 levels for 20 patients

  • Normal GL-3 accumulation in other organ systems, including the skin

These findings provide a path forward for patients stifled by the harsh realities of Fabry disease and other metabolic disorders. 


Icahn School of Medicine Announces Breakthrough Enzyme Replacement Therapy Treatment for Fabry Disease 


The treatment showed significant reductions in GL-3 accumulations, and is expected to be a leap forward for individuals who have malfunctioning enzymes as a result of Fabry disease




ABOUT ICAHN SCHOOL OF MEDICINE

Located in Manhattan, Mount Sinai School of Medicine strives to serve our East Harlem neighbours by strengthening health care delivery, improving quality of life, and providing educational opportunities. We are global leaders in clinical, basic science research, and medical education. Since 2000, we have secured over $168 million in public and private research funding, and rank #22 out of 125 medical schools in total research funding. For more information please visit https://icahn.mssm.edu/

Media Pitch

A reporter for STAT News with a doctorate from Stanford, Jonathan is a life science expert covering Biotech & Pharma and has previously covered rare disease therapies.

Jonathan Wosen

Hi Jonathan,

In alignment with your previous coverage of rare disease research, I thought you might be interested in a first look at topline results from Icahn School of Medicine's Phase 3 clinical study of an enzyme replacement therapy treatment to combat Fabry disease. 

Icahn School of Medicine is planning to announce positive Phase 3 data of its investigative enzyme replacement therapy based on their technology in Niemann-Pick disease. The study enrolled 58 trial participants, with the experimental group receiving biweekly treatments of enzyme-replacement therapy. Coordinated by Dr. Robert J. Desnick and a team of researchers at Mount Sinai's East Harlem hospital, the study is the first of its kind in cohort size for Fabry disease. 

In a high-need market with limited options the enzyme therapy marks a turning point in the fight against Fabry disease. The treatment's mechanism of action reduces GL-3 levels in vital organs to combat metabolic dysfunction. 

Looking to the future, Icahn School of Medicine has initiated the FDA approval process to systemize a potential path to commercialization for a patient population with limited options. 

I have attached the press release for more details. Feel free to reach out if this topic is of interest. 

Thanks,
Rhiju Chakraborty
Account Executive, CG Life
rchakraborty@cglife.com

EXCLUSIVE: Phase 3 Results Show Icahn School of Medicine Enzyme Replacement Therapy Lowers GL-3 Levels