Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022.
Journal
Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060
Informations de publication
Date de publication:
29 08 2023
29 08 2023
Historique:
received:
22
07
2022
accepted:
08
05
2023
pmc-release:
29
08
2024
medline:
31
8
2023
pubmed:
8
7
2023
entrez:
7
7
2023
Statut:
ppublish
Résumé
The French Pompe disease registry was created in 2004 for study of the natural course of the disease in patients. It rapidly became a major tool for assessing the long-term efficacy of enzyme replacement therapy (ERT) after the market release of alglucosidase-alfa. Approximately 10 years after publication of the baseline characteristics of the 126 initial patients of the French Late-Onset Pompe Disease registry, we provide here an update of the clinical and biological features of patients included in this registry. We describe 210 patients followed at 31 hospital-based French neuromuscular or metabolic centers. The median age at inclusion was 48.67 ± 14.91 years. The first symptom was progressive lower limb muscle weakness, either isolated (50%) or associated with respiratory symptoms (18%), at a median age of 38 ± 14.9 years. At inclusion, 64% of the patients were able to walk independently and 14% needed a wheelchair. Positive associations were found between motor function measure, manual motor test, and 6-minute walk test (6MWT) results, and these parameters were inversely associated with the time taken to sit up from a lying position at inclusion. Seventy-two patients had been followed for at least 10 years in the registry. Thirty-three patients remained untreated a median of 12 years after symptom onset. The standard ERT dose was administered for 177 patients. This update confirms previous findings for the adult population included in the French Pompe disease registry, but with a lower clinical severity at inclusion, suggesting that this rare disease is now diagnosed earlier; thanks to greater awareness among physicians. The 6MWT remains an important method for assessing motor performance and walking ability. The French Pompe disease registry provides an exhaustive, nationwide overview of Pompe disease and can be used to assess individual and global responses to future treatments.
Sections du résumé
BACKGROUND AND OBJECTIVES
The French Pompe disease registry was created in 2004 for study of the natural course of the disease in patients. It rapidly became a major tool for assessing the long-term efficacy of enzyme replacement therapy (ERT) after the market release of alglucosidase-alfa.
METHODS
Approximately 10 years after publication of the baseline characteristics of the 126 initial patients of the French Late-Onset Pompe Disease registry, we provide here an update of the clinical and biological features of patients included in this registry.
RESULTS
We describe 210 patients followed at 31 hospital-based French neuromuscular or metabolic centers. The median age at inclusion was 48.67 ± 14.91 years. The first symptom was progressive lower limb muscle weakness, either isolated (50%) or associated with respiratory symptoms (18%), at a median age of 38 ± 14.9 years. At inclusion, 64% of the patients were able to walk independently and 14% needed a wheelchair. Positive associations were found between motor function measure, manual motor test, and 6-minute walk test (6MWT) results, and these parameters were inversely associated with the time taken to sit up from a lying position at inclusion. Seventy-two patients had been followed for at least 10 years in the registry. Thirty-three patients remained untreated a median of 12 years after symptom onset. The standard ERT dose was administered for 177 patients.
DISCUSSION
This update confirms previous findings for the adult population included in the French Pompe disease registry, but with a lower clinical severity at inclusion, suggesting that this rare disease is now diagnosed earlier; thanks to greater awareness among physicians. The 6MWT remains an important method for assessing motor performance and walking ability. The French Pompe disease registry provides an exhaustive, nationwide overview of Pompe disease and can be used to assess individual and global responses to future treatments.
Identifiants
pubmed: 37419682
pii: WNL.0000000000207547
doi: 10.1212/WNL.0000000000207547
pmc: PMC10501092
doi:
Substances chimiques
alpha-Glucosidases
EC 3.2.1.20
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e966-e977Investigateurs
Fatima Bouibede
(F)
Catherine Caillaud
(C)
Jean-Baptiste Davion
(JB)
Joelle Deibener-Kaminsky
(J)
Florence Demurger
(F)
Isabelle Durieu
(I)
Andonin Echaniz-Laguna
(A)
Florence Esselin
(F)
Maxime Fournier
(M)
Roseline Froissart
(R)
Pierre Yves Garcia
(PY)
D P Germain
(DP)
Karima Ghorab
(K)
Guillaume Nicolas
(G)
Rolland Jaussaud
(R)
Elsa Krim
(E)
Laurent Magy
(L)
Marion Masingue
(M)
Marie-Christine Minot-Myhié
(MC)
Sylvain Nollet
(S)
Adeline Not
(A)
David Orlikowski
(D)
Thierry Perez
(T)
Philippe Petiot
(P)
Julien Praline
(J)
Frédéric Tai The
(F)
Ségolène Toquet
(S)
Fabien Zagnoli
(F)
Informations de copyright
© 2023 American Academy of Neurology.
Références
J Neurol. 2020 Oct;267(10):3038-3053
pubmed: 32524257
J Inherit Metab Dis. 2015 May;38(3):565-72
pubmed: 25749708
Brain. 1970;93(3):599-616
pubmed: 4918728
Eur J Neurol. 2022 Apr;29(4):1181-1186
pubmed: 34927321
Orphanet J Rare Dis. 2020 Apr 5;15(1):83
pubmed: 32248831
J Inherit Metab Dis. 2018 Nov;41(6):937-946
pubmed: 30155607
Neuromuscul Disord. 2015 Aug;25(8):674-8
pubmed: 25998612
Curr Gene Ther. 2009 Dec;9(6):503-10
pubmed: 19807648
Lancet. 2008 Oct 11;372(9646):1342-53
pubmed: 18929906
Rev Neurol (Paris). 2010 Jan;166(1):49-53
pubmed: 19524275
Eur J Neurol. 2022 Jul;29(7):2121-2128
pubmed: 35302691
J Inherit Metab Dis. 2020 Nov;43(6):1219-1231
pubmed: 32515844
Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):595-602
pubmed: 24008051
Neurology. 2000 Oct 24;55(8):1122-8
pubmed: 11071489
Am J Med Genet A. 2007 Nov 1;143A(21):2493-501
pubmed: 17853454
Neurology. 2019 Nov 5;93(19):e1756-e1767
pubmed: 31619483
J Clin Med. 2021 Jul 30;10(15):
pubmed: 34362174
Neuromuscul Disord. 2005 Jul;15(7):463-70
pubmed: 16106528
Neurology. 2017 Dec 5;89(23):2365-2373
pubmed: 29117951
Neuromuscul Disord. 2010 Feb;20(2):128-30
pubmed: 20005713