Rare Community Profiles is a Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.…
Written by Rachelen Varghese I am lucky to call the Jones’ my friends. Brian Jones is a practicing nephrologist in Asheville, North Carolina who met his wife, Tia, while he…
If you’ve ever heard of alpha-synuclein before, you may have heard it described in relation to Parkinson’s disease. Alpha-synuclein clumps in the brain; while doctors are still trying to…
In late May 2023, clinical-stage biopharmaceutical company Sangamo Therapeutics, Inc. (“Sangamo”) shared that its product isaralgagene civaparvovc (ST-920) was granted Fast Track Designation by the FDA. This designation is…
Rare Community Profiles Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their…
On May 10, 2023, reports EMPR, the U.S. FDA approved Elfabrio (pegunigalsidase alfa-iwxj) for adults who are living with Fabry disease. Developed by Protalix Biotherapeutics in conjunction with Chiesi Global…
In June 2022, Andrew Mace received CPR from a neighbor, 21-year-old Alex Duncan, a med student who luckily remembered her instructions while at Cambridge University, UK. Andrew, age 44,…
New Delhi: Recent headlines in the Hindustan Times highlighted a letter written by the leader of the Bharatiya Janata Party, Varnum Gandhi, to Health Minister Mansukh Mandaviya urging him…
Sangamo Therapeutics, with its primary focus on genomic medicine, recently issued a news release announcing data from its phase 1/2 STARR trial. The data evaluated isaralgagene civaparvovec, or (ST-920) as…
The current standard-of-care for Fabry disease is called enzyme replacement therapy (ERT). According to Fabry Disease News, researchers have been working to evaluate an experimental ERT for patients called ISU303.…
The European Society for Gene and Cell Therapy (ESGCT) recently held its Annual Congress from October 11-14, 2022. During the ESGCT Congress, various stakeholders discussed data, trends, and new research…
According to a news release on Yahoo! Finance, clinical-stage biotechnology company Freeline Therapeutics Holdings plc ("Freeline") shared that it had initiated dosing in the second cohort of the Phase…
Jack Johnson was diagnosed with Fabry disease when he was just seven years old. He likes to compare living with the rare disease to long COVID, but unlike long COVID,…
In the United States, Orphan Drug designation is granted to drugs or biologics intended to treat, prevent, or diagnose rare conditions. A "rare" condition is defined as one affecting fewer…
Clinical trials are important in developing a better understanding of certain diseases or conditions, as well as how to treat them. According to HCP Live, researchers evaluated PRX-102 (pegunigalsidase alfa),…
Munique Slongo is a rare disease patient diagnosed with Fabry disease. She has taken the time to share her story about what life with this diagnosis has been like. Fabry…
Avrobio has just announced that they will be stopping work on their investigative gene therapy for Fabry disease based on unexpected and disappointing results from a Phase 2 clinical trial.…
From November 21st until the 23rd, medical professionals and others involved in the metabolic field will come together for the 14th International Congress of Inborn Errors of Metabolism (ICIEM). It…
Fabry disease patients may have another treatment option soon, according to a press release published in BioSpace. Protalix Biotherapeutics and Chiesi Global Rare Diseases have provided an update on the…
Written by Dawn Laney, MS, CDC, CCRC The journey to a Fabry disease diagnosis is rarely a clear, straight path. Fabry can mimic more common health issues and lead patients…
According to a story from BioPharma Dive, gene therapy for Fabry disease is still in its early stages of development. However, it is already beginning to show potential as a…
On August 2, 2021, biotechnology company Amicus Therapeutics ("Amicus") shared that its oral treatment Galafold (migalastat) was approved by the European Commission (EC) for the treatment of adolescent patients (ages…
Dan Baker, a 56 year old former anesthesiologist, knew from childhood that something peculiar and unpleasant was going on with his body. Unfortunately, it would take decades before he found…
According to a story from Fabry Disease News, the month of April is recognized as Fabry Disease Awareness Month, a time dedicated to spreading awareness about Fabry disease in the…
New research suggests that ultrasounds could be a new diagnostic tool for patients with a rare lysosomal storage disorder. According to Fabry Disease News, kidney dysfunction is characteristic in Fabry…
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