News Archives

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...

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

Phenotypic implications of pathogenic variant types in Pompe disease

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

10th Annual PCMA Pull for Pompe!

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

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