2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Head-To-Head Trial of Pegunigalsidase Alfa vs. Agalsidase Beta in Fabry Disease: Phase 3 Randomized, Double-Blind, BALANCE Study 2-Year Results

Head-To-Head Trial of Pegunigalsidase Alfa vs. Agalsidase Beta in Fabry Disease: Phase 3 Randomized, Double-Blind, BALANCE Study 2-Year Results

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Pdf Summary

This study presented the baseline evaluations of patients with alpha-mannosidosis enrolled in the SPARKLE registry. The registry included 58 patients across 23 European sites, with a mean age of 21.6 years at enrollment. The mean age at first manifestation of alpha-mannosidosis was 1.9 years, and the mean age at diagnosis was 8.0 years. The most common clinical signs and symptoms reported among 50 patients with evaluable data included cognitive disability, hearing impairment or loss, facial dysmorphism, balance disturbances, and walking difficulties. These signs and symptoms indicate the impact of alpha-mannosidosis on the neurologic and musculoskeletal systems. The registry also captured a small number of patients with heart, lung, or abdominal organ abnormalities. Overall, the findings from the SPARKLE registry are consistent with previous estimates of disease symptomology. The variability in clinical presentation highlights the need for timely diagnosis and treatment initiation. The authors recommended that increased awareness of the clinical signs and symptoms associated with alpha-mannosidosis across multiple body systems may aid in early diagnosis, individualized therapeutic management, and earlier treatment. The study had some limitations, including the subjective nature of symptom assessment and variations in data availability and recall bias.

Asset Subtitle

Submitter Only - Adam Bijou, MD; Co-Author - John A. Bernat, MD, PhD; Co-Author - Eric Wallace, MD; Co-Author - Ozlem Goker-Alpan, MD; Co-Author - William R. Wilcox, MD, PhD, FACMG; Co-Author - Myrl Holida, PA-C; Co-Author - Nicola Longo, MD PhD FACMG; Co-Author - Derralynn Hughes, MA DPhil FRCP FRCPath; Co-Author - Pilar Giraldo, MD; Co-Author - Maria J. Molnar, MD, PhD; Co-Author - Damara N. Ortiz, MD, FAAP, FACMG; Co-Author - Robert J. Hopkin, MD; Co-Author - Camilla Tondel, MD PhD; Co-Author - Ales Linhart, MD, DSc; Co-Author - Patrick Deegan, MD; Co-Author - Ana Jovanovic, MD; Co-Author - Michael Muriello, MD; Co-Author - Bruce A. Barshop, MD, PhD; Co-Author - Virginia Kimonis, MD; Co-Author - Bojan Vujkovac, MD; Co-Author - Albina Nowak, MD; Co-Author - Tarekegn Hiwot, MD; Co-Author - Antonio Pisani, MD; Co-Author - Dominique P. Germain, MD, PhD; Co-Author - Ilkka Kantola, MD, PhD; Co-Author - Jasmine Knoll, MD; Co-Author - Ankit Mehta, MD; Co-Author - Stephen Waldek, MD, PhD; Co-Author - Einat Almon, PhD; Co-Author - Sari Alon, MD; Co-Author - Raul Chertkoff, MD; Co-Author - Rossana Rocco, MD; Presenting Author - David G. Warnock, MD;

Meta Tag

Enzyme Replacement Therapy

Lysosomal Diseases

Metabolic Disorder

Therapy

X-Inactivation/X-Linked Disease

Co-Author John A. Bernat, MD, PhD

Co-Author Eric Wallace, MD

Co-Author Ozlem Goker-Alpan, MD

Co-Author William R. Wilcox, MD, PhD, FACMG

Co-Author Myrl Holida, PA-C

Co-Author Nicola Longo, MD PhD FACMG

Co-Author Derralynn Hughes, MA DPhil FRCP FRCPath

Co-Author Pilar Giraldo, MD

Co-Author Maria J. Molnar, MD, PhD

Co-Author Damara N. Ortiz, MD, FAAP, FACMG

Co-Author Robert J. Hopkin, MD

Co-Author Camilla Tondel, MD PhD

Co-Author Ales Linhart, MD, DSc

Co-Author Patrick Deegan, MD

Co-Author Ana Jovanovic, MD

Co-Author Michael Muriello, MD

Co-Author Bruce A. Barshop, MD, PhD

Co-Author Virginia Kimonis, MD

Co-Author Bojan Vujkovac, MD

Co-Author Albina Nowak, MD

Co-Author Tarekegn Hiwot, MD

Co-Author Antonio Pisani, MD

Co-Author Dominique P. Germain, MD, PhD

Co-Author Ilkka Kantola, MD, PhD

Co-Author Jasmine Knoll, MD

Co-Author Ankit Mehta, MD

Co-Author Stephen Waldek, MD, PhD

Co-Author Einat Almon, PhD

Co-Author Sari Alon, MD

Co-Author Raul Chertkoff, MD

Co-Author Rossana Rocco, MD

Presenting Author David G. Warnock, MD

Submitter Only Adam Bijou, MD

Keywords

alpha-mannosidosis

SPARKLE registry

baseline evaluations

European sites

age at enrollment

age at first manifestation

age at diagnosis

clinical signs and symptoms

neurologic and musculoskeletal systems

timely diagnosis