Pompe disease is a spectrum.
This was a key message at the 2019 AMDA/IPA International Pompe Patient and Scientific Conference held in San Antonio, TX in October. Hosted by the Acid Maltese Deficiency Association (AMDA) and the International Pompe Association (IPA), the conference attracted over 200 attendees from 15 different countries. The agenda of the conference featured over 30 speakers including world-renowned newborn screening leader Dr. Yin-Hsiu Chien.
Dr. Chien is director of the newborn screening center at National Taiwan University Hospital, which routinely screens around one third of newborn infants in Taiwan. Dr. Chien has made diverse contributions in the field of inborn errors of metabolisms and primary immunodeficiency. She is currently focusing on Pompe disease, specifically on early diagnosis and improvement of treatment, as well as on early diagnosis of severe immunodeficiency.
Our team had the privilege of conducting a video interview with Dr. Chien at the AMDA/IPA conference. Watch the interview below:
Key Takeaways from Dr. Chien:
- Newborn screening (NBS) for Pompe disease enables early detection and initiation of enzyme replacement therapy which is beneficial to classic infantile onset Pompe disease (IOPD) patients.
- The false positive rate in NBS for Pompe disease is increased due in part to pseudodeficiencies – regardless of first tier screening method.
- Second tier testing is necessary to decrease the false positive rate and facilitate the referral process for true positives.
- Screening for late onset Pompe disease (LOPD) is important because 1) first tier screening does not differentiate IOPD from LOPD and 2) LOPD can present in childhood.
- Pompe disease is a spectrum starting with the classic IOPD which presents with cardiomegaly at birth. LOPD patients may not show symptoms until adulthood, but atypical LOPD patients exist who experience cardiomegaly after the newborn stage during childhood.