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The first-in-human implantation of a leadless pacing system occurred already more than 10 years ago.1 The first-generation ventricular leadless pacemaker could provide only asynchronous ventricular pacing (ventricular, ventricular, inhibited [VVI], or ventricular, ventricular, inhibited, rate response [VVIR]), limiting its indications to patients with atrial fibrillation and severe bradycardia, those precluded for implantation of a transvenous pacemaker […]

Damara Ortiz, Rare Disease Day 2022: The impact of Pompe disease and the importance of newborn screening

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Published Online: Feb 24th 2022

Prof. Damara Ortiz (UPMC Children’s Hospital of Pittsburgh, Pittsburgh, PA, USA) joins us for Rare Disease Day to discuss the daily impact that Pompe disease has on patients. Prof. Ortiz discusses how emerging therapies have improved outcomes for children, and how a newborn screening program has been put in place in Pennsylvania to diagnose Pompe disease early and save children’s lives.

Touch Medical Media is supporting Rare Disease Day (28 February 2022) to shine a light on healthcare inequalities for people living with rare diseases, focusing on patient quality of life and the difficulty of diagnosing patients early.

Questions:

  1. Could you tell us a little about the spectrum of Pompe disease and the impact on daily life for people living with Pompe disease? (026)
  2. You’re involved in the newborn screening program for Pompe disease – why is this important for people with the disease? (2:15)
  3. With new therapies prolonging survival, what more is needed to support people living with Pompe to realise their life goals? (6:22)

Disclosures: Damara Ortiz has received research and grant support from Sanofi-Genzyme and Amicus.

Support: The production of this video was supported by Touch Medical Media.

Other content available in support of Rare Disease Day includes: 

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