News Archives

February 2021 Amicus’ AT-GAA Shows Clinically Meaningful & Significant Improvements in Both Musculoskeletal and Respiratory Measures

Jul 31, 2021 | NEWS

Amicus’ AT-GAA Shows Clinically Meaningful & Significant Improvements in Both Musculoskeletal and Respiratory Measures in Late-Onset Pompe DiseaseA form of Pompe disease that begins after infancy and usually progresses more slowly. More Compared to Standard of...

PHOENIX’S STORY – (AN INFANTILE-ONSET PATIENT)

Jun 11, 2021 | PATIENTS

Phoenix was born July 18th, 2003. I remember reading his APGAR test and the words of the neonatologist were “strong” however, I couldn’t tell if he was referring to his heart or his muscles. At any rate, he showed no sign of any serious problems other than the fact...

Phenotypic implications of pathogenic variant types in Pompe disease

Apr 20, 2021 | RESEARCH, PUBLICATIONS

Manuel A. Viamonte1,2 ● Stephanie L. Filipp3 ● Zara Zaidi4,8 ● Matthew J. Gurka3 ● Barry J. Byrne4 ● Peter B. Kang 1,5,6,7 Received: 25 January 2021 / Revised: 1 April 2021 / Accepted: 20 April 2021 © The Author(s), under exclusive licence to The Japan Society of...

Spark Therapeutics Announces First Participant Dosed in Phase 1/2 Study of Investigational Gene Therapy for Late-Onset Pompe Disease

Feb 2, 2021 | NEWS

First participant dosed in the RESOLUTESM trial, a Phase 1/2 dose-escalation study of SPK-3006 Enrollment of approximately 20 total study participants is ongoing PHILADELPHIA, February 1, 2021 (GLOBE NEWSWIRE)— Spark Therapeutics, a member of the Roche Group (SIX: RO,...

10th Annual PCMA Pull for Pompe!

Jan 22, 2021 | NEWS

The AMDA is excited to announce that the 10th Annual PCMA’s Pull for Pompe will take place on Saturday, April 4, 2020 at the National Shooting Complex in San Antonio, Texas! The Pull for Pompe clay shooting event is designed for all ages and ability levels. Please...

Dr. Priya Kishnani, an Informative Session on the Covid 19 Vaccine with Questions and Answers

Jan 14, 2021 | PAST WEBINARS

Webinar Details Title: Informative Session on the Covid 19 Vaccine with Questions and Answers Date: Thursday, January 14, 2021 Speaker:Dr. Priya Kishnani Speaker Biography Dr. Priya Kishnani, MD Chief, Division of Medical Genetics, Department of Pediatrics; Professor...

National Patient-Teacher Registry: A New Educational Concept

Dec 9, 2020 | PAST WEBINARS

Webinar Details Title: National Patient-Teacher Registry: A New Educational Concept Date: Wednesday, December 9, 2020 Speaker:Mark Korson, PhD, VMP Genetics, LLC, Director of Physician Support, Director of Education Webinar Overview:In general, medical students and...

Audentes Pompe Program Update

Jul 27, 2020 | NEWS

Audentes has released a Pompe Program Update. It includes information regarding FORTIS, their clinical trialA research study that tests new treatments or approaches in people. More for gene therapyA developing treatment that aims to fix, replace, or add genetic...

Spark Therapeutics Clinical Trial FAQ

Jul 26, 2020 | NEWS

Spark Therapeutics has developed a “Frequently Asked Questions” document regarding their RESOLUTE clinical trialA research study that tests new treatments or approaches in people. More. Please click here to...

Patient Focused Drug Development Meeting—UPDATE

Jul 10, 2020 | NEWS

As everyone knows, due to the ongoing COVID-19 pandemic, the Patient-Focused Drug Development Meeting (PFDD) that was originally scheduled for March 09, 2020, was postponed. It has been moved to a Virtual Meeting that will take place Monday, July 13, 2020, from...

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