Fabry Disease News

September 17, 2021September 17, 2021

Fabry Identified in Central Asian Family for First Time

Fabry Disease News

Two cases of Fabry disease, diagnosed decades after symptom onset, were identified for the first time in a Central Asian family, a case study reported. Further analysis revealed many affected ... Read more

September 10, 2021September 10, 2021

Group Focuses on Rare Disease Clinical Trial Participation

Fabry Disease News

Participation in clinical trials exposes rare disease patients to financial, physical, and emotional pressures, according to the results of a patient focus group series. “Rare disease trial participants are running ... Read more

September 10, 2021September 11, 2021

AVR-RD-01 Gene Therapy Trial Now Open to Female Patients

Fabry Disease News

Avrobio’s ongoing FAB-GT Phase 2 clinical trial, testing its experimental gene therapy AVR-RD-01 in adolescents and adults with Fabry disease, is now open to female patients. The protocol amendment, implemented ... Read more

September 3, 2021September 4, 2021

Juvenile Idiopathic Arthritis, Fabry Found to Co-occur in Children

Fabry Disease News

Juvenile idiopathic arthritis or JIA, the most frequent chronic inflammatory arthritis disorder affecting children, may co-occur with Fabry disease, according to a study of children with JIA in Brazil. While ... Read more

September 2, 2021September 2, 2021

‘Running for Rare’: NORD a Charity Partner of 2021 NYC Marathon

Fabry Disease News

The National Organization for Rare Disorders, known as NORD, was named an official charity partner of the 2021 TCS New York City Marathon, which will be held Nov. 7 both ... Read more

August 27, 2021August 27, 2021

‘Not Alone in the Dark’: New Guide for, by Caregivers of Children With Rare Diseases

Fabry Disease News

The National Alliance for Caregiving, in partnership with Global Genes, has issued a free guidebook, available online, that offers resources and support for caregivers of children with rare diseases. “The ... Read more

August 20, 2021August 20, 2021

Protalix Asks FDA to Discuss Future of PRX-102

COVID-19 News, Fabry Disease News

Protalix BioTherapeutics has requested a type A meeting with the U.S. Food and Drug Administration (FDA) to discuss a path forward for approval of PRX-102 (pegunigalsidase alfa), an investigational therapy ... Read more

August 19, 2021August 19, 2021

Register Now for Global Genes’ RARE Patient Advocacy Summit

Fabry Disease News

Registration is now open for Global Genes‘ 2021 RARE Patient Advocacy Summit. This year’s hybrid event will be livestreamed from California Sept. 27-29, and some seats also are available for attending ... Read more

August 13, 2021August 13, 2021

NORD Rare Disease Summit, Online Oct. 18-19, Open for Registration

COVID-19 News, Fabry Disease News

Registration is now open for the 2021 Rare Diseases and Orphan Products Breakthrough Summit, which will be held virtually Oct. 18–19. The event, also known as the National Organization for ... Read more

August 6, 2021August 6, 2021

Galafold Approved in EU for Children 12 and Older With Fabry

Fabry Disease News

The European Commission has expanded the use of Galafold (migalastat) to children starting at age 12 and weighing at least 45 kilograms (99 pounds), with confirmed Fabry disease and a genetic mutation ... Read more

July 30, 2021July 31, 2021

Starting ERT Before Kidney Disease Onset Leads to Better Outcomes

Fabry Disease News

In people with Fabry disease, starting enzyme replacement therapy (ERT) before the onset of chronic kidney disease — known as CKD — is linked with better outcomes, according to a ... Read more

July 29, 2021July 29, 2021

US Patient Groups Give Thumbs-Up to Rule Against Surprise Billing

Fabry Disease News

The National Organization for Rare Disorders (NORD) is applauding the Biden administration for announcing a rule to protect consumers from surprise medical billing, in a joint statement with 26 other ... Read more

July 23, 2021July 23, 2021

Partnership Aims to Lower Out-of-Pocket Costs for Rare Disease Meds

Fabry Disease News

AllianceRx Walgreens Prime, a specialty and home delivery pharmacy, is partnering with TailorMed, a healthcare technology company, to help lower out-of-pocket prescription costs for specialty pharmacy patients. Medications attained through specialty pharmacies ... Read more

July 16, 2021July 16, 2021

Nominations Open for 2022 Eurordis Black Pearl Awards

Fabry Disease News

Nominations are now open for the worldwide 2022 Black Pearl Awards from Eurordis-Rare Diseases Europe. The 12 award categories recognize individual advocates, policy makers, researchers, organizations, and companies who work ... Read more

July 9, 2021July 9, 2021

Potential Genome-editing Therapy Shows Promise in Fabry Mouse Model

Fabry Disease News

An experimental genome-editing therapy safely and effectively increased levels of alpha-galactosidase A (Gal A) — which is lacking in people with Fabry disease — in a mouse model of the ... Read more