Clinical Characteristics and Genotypes in the ADVANCE Baseline Data Set, a Comprehensive Cohort of US Children and Adolescents with Pompe Disease

Overview

Journal Genet Med

Publisher Elsevier

Specialty Genetics

Date 2019 May 16

PMID 31086307

Citations 5

Authors

Priya S Kishnani

James B Gibson

Michael J Gambello

Richard Hillman

David W Stockton

David Kronn

Nancy D Leslie

Loren D M Pena

Pranoot Tanpaiboon

John W Day

Raymond Y Wang

Jennifer L Goldstein

Kristina An Haack

Susan E Sparks

Yang Zhao

Si Houn Hahn

Affiliations

Soon will be listed here.

Abstract

Purpose: To characterize clinical characteristics and genotypes of patients in the ADVANCE study of 4000 L-scale alglucosidase alfa (NCT01526785), the largest prospective United States Pompe disease cohort to date.

Methods: Patients aged ≥1 year with confirmed Pompe disease previously receiving 160 L alglucosidase alfa were eligible. GAA genotypes were determined before/at enrollment. Baseline assessments included histories/physical exams, Gross Motor Function Measure-88 (GMFM-88), pulmonary function tests, and cardiac assessments.

Results: Of 113 enrollees (60 male/53 female) aged 1-18 years, 87 had infantile-onset Pompe disease (IOPD) and 26 late-onset (LOPD). One hundred eight enrollees with GAA genotypes had 215 pathogenic variants (220 including combinations): 118 missense (4 combinations), 23 splice, 35 nonsense, 34 insertions/deletions, 9 duplications (1 combination), 6 other; c.2560C>T (n = 23), c.-32-13T>G (n = 13), and c.525delT (n = 12) were most common. Four patients had previously unpublished variants, and 14/83 (17%) genotyped IOPD patients were cross-reactive immunological material-negative. All IOPD and 6/26 LOPD patients had cardiac involvement, all without c.-32-13T>G. Thirty-two (26 IOPD, 6 LOPD) were invasively ventilated. GMFM-88 total %scores (mean ± SD, median, range): overall 46.3 ± 33.0% (47.9%, 0.0-100.0%), IOPD 41.6 ± 31.64% (38.9%, 0.0-99.7%), LOPD: 61.8 ± 33.2 (70.9%, 0.0-100.0%).

Conclusion: ADVANCE, a uniformly assessed cohort comprising most US children and adolescents with treated Pompe disease, expands understanding of the phenotype and observed variants in the United States.

Citing Articles

Navigating Pompe Disease Assessment: A Comprehensive Scoping Review.

Campos L, Davila Rivera I, Ibanez Alegre D, Del Puerto Gonzalez F, Garrido San Juan M, Zelcer F Cureus. 2024; 16(11):e73593.

PMID: 39677172 PMC: 11645167. DOI: 10.7759/cureus.73593.

Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.

Martinez-Montoya V, Sanchez-Sanchez L, Sandoval-Pacheco R, Castro D, Arellano-Valdez C, Avila-Rejon C Mol Genet Genomic Med. 2024; 12(7):e2480.

PMID: 38958145 PMC: 11220502. DOI: 10.1002/mgg3.2480.

Base editing rescues acid α-glucosidase function in infantile-onset Pompe disease patient-derived cells.

Christensen C, Kan S, Andrade-Heckman P, Rha A, Harb J, Wang R Mol Ther Nucleic Acids. 2024; 35(2):102220.

PMID: 38948331 PMC: 11214518. DOI: 10.1016/j.omtn.2024.102220.

An artificial intelligence-based approach for identifying rare disease patients using retrospective electronic health records applied for Pompe disease.

Lin S, Nateqi J, Weingartner-Ortner R, Gruarin S, Marling H, Pilgram V Front Neurol. 2023; 14:1108222.

PMID: 37153672 PMC: 10160659. DOI: 10.3389/fneur.2023.1108222.

Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.

Duong T, Kishnani P, Haack K, Foster M, Gibson J, Wilson C J Neuromuscul Dis. 2022; 9(6):713-730.

PMID: 36214004 PMC: 9697057. DOI: 10.3233/JND-210784.

References

Herzog A, Hartung R, Reuser A, Hermanns P, Runz H, Karabul N . A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations. Orphanet J Rare Dis. 2012; 7:35. PMC: 3479421. DOI: 10.1186/1750-1172-7-35. View

Angermann C, Ertl G . [Natriuretic peptides--new diagnostic markers in heart disease]. Herz. 2005; 29(6):609-17. DOI: 10.1007/s00059-004-2619-8. View

Hirschhorn R, Huie M . Frequency of mutations for glycogen storage disease type II in different populations: the delta525T and deltaexon 18 mutations are not generally "common" in white populations. J Med Genet. 1999; 36(1):85-6. PMC: 1762954. View

van Capelle C, van der Beek N, de Vries J, van Doorn P, Duivenvoorden H, Leshner R . The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients. J Inherit Metab Dis. 2011; 35(2):317-23. PMC: 3278629. DOI: 10.1007/s10545-011-9388-3. View

Lee D, Qiu W, Lee J, Chien Y, Hwu W . Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype. JIMD Rep. 2014; 17:71-5. PMC: 4241200. DOI: 10.1007/8904_2014_339. View

Bali D, Goldstein J, Rehder C, Kazi Z, Berrier K, Dai J . Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease. Mol Genet Metab Rep. 2015; 5:76-79. PMC: 4674832. DOI: 10.1016/j.ymgmr.2015.10.012. View

Kroos M, Pomponio R, Van Vliet L, Palmer R, Phipps M, van der Helm R . Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. Hum Mutat. 2008; 29(6):E13-26. DOI: 10.1002/humu.20745. View

Pittis M, Montalvo A, Miocic S, Martini C, Deganuto M, Candusso M . Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II. Am J Med Genet A. 2003; 121A(3):225-30. DOI: 10.1002/ajmg.a.20164. View

van Capelle C, Goedegebure A, Homans N, Hoeve H, Reuser A, van der Ploeg A . Hearing loss in Pompe disease revisited: results from a study of 24 children. J Inherit Metab Dis. 2010; 33(5):597-602. PMC: 2946566. DOI: 10.1007/s10545-010-9144-0. View

10.

Rairikar M, Case L, Bailey L, Kazi Z, Desai A, Berrier K . Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant. Mol Genet Metab. 2017; 122(3):99-107. PMC: 5722675. DOI: 10.1016/j.ymgme.2017.09.008. View

11.

Tan Q, Stockton D, Pivnick E, Choudhri A, Hines-Dowell S, Pena L . Premature pubarche in children with Pompe disease. J Pediatr. 2015; 166(4):1075-8.e1. PMC: 10880744. DOI: 10.1016/j.jpeds.2014.12.074. View

12.

Kroos M, van der Kraan M, van Diggelen O, Kleijer W, Reuser A, van den Boogaard M . Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients. J Med Genet. 1995; 32(10):836-7. PMC: 1051720. DOI: 10.1136/jmg.32.10.836-a. View

13.

Pipo J, Feng J, Yamamoto T, Ohsaki Y, Nanba E, Tsujino S . New GAA mutations in Japanese patients with GSDII (Pompe disease). Pediatr Neurol. 2003; 29(4):284-7. DOI: 10.1016/s0887-8994(03)00267-4. View

14.

Shimada Y, Kobayashi H, Kawagoe S, Aoki K, Kaneshiro E, Shimizu H . Endoplasmic reticulum stress induces autophagy through activation of p38 MAPK in fibroblasts from Pompe disease patients carrying c.546G>T mutation. Mol Genet Metab. 2011; 104(4):566-73. DOI: 10.1016/j.ymgme.2011.09.005. View

15.

Elder M, Nayak S, Collins S, Lawson L, Kelley J, Herzog R . B-Cell depletion and immunomodulation before initiation of enzyme replacement therapy blocks the immune response to acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr. 2013; 163(3):847-54.e1. PMC: 3981605. DOI: 10.1016/j.jpeds.2013.03.002. View

16.

Hahn S, Kronn D, Leslie N, Pena L, Tanpaiboon P, Gambello M . Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study. Genet Med. 2018; 20(10):1284-1294. DOI: 10.1038/gim.2018.2. View

17.

Nicolino M, Byrne B, Wraith J, Leslie N, Mandel H, Freyer D . Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med. 2009; 11(3):210-9. DOI: 10.1097/GIM.0b013e31819d0996. View

18.

Amartino H, Painceira D, Pomponio R, Niizawa G, Sabio Paz V, Blanco M . Two clinical forms of glycogen-storage disease type II in two generations of the same family. Clin Genet. 2006; 69(2):187-8. DOI: 10.1111/j.1399-0004.2005.00557.x. View

19.

van der Ploeg A, Clemens P, Corzo D, Escolar D, Florence J, Groeneveld G . A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med. 2010; 362(15):1396-406. DOI: 10.1056/NEJMoa0909859. View

20.

Kishnani P, Corzo D, Nicolino M, Byrne B, Mandel H, Hwu W . Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2006; 68(2):99-109. DOI: 10.1212/01.wnl.0000251268.41188.04. View