Title :

Characteristics of Patients With Late Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022.

Author(s) :

Lefeuvre, Claire [Auteur]
Hôpital Raymond Poincaré [AP-HP]
Antonio, M. [Auteur]
Bouhour, F. [Auteur]
Tard, Celine [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172
Salort-Campana, E. [Auteur]
Lagrange, E. [Auteur]
Behin, A. [Auteur]
Sole, G. [Auteur]
Noury, J. B. [Auteur]
Sacconi, S. [Auteur]
Magot, A. [Auteur]
Nadaj-Pakleza, A. [Auteur]
Lacour, A. [Auteur]
Beltran, S. [Auteur]
Spinazzi, M. [Auteur]
Cintas, P. [Auteur]
Renard, D. [Auteur]
Michaud, M. [Auteur]
Bedat-Millet, A. L. [Auteur]
Prigent, H. [Auteur]
Taouagh, N. [Auteur]
Arrassi, A. [Auteur]
Hamroun, D. [Auteur]
Attarian, S. [Auteur]
Laforêt, Pascal [Auteur]
Hôpital Raymond Poincaré [AP-HP]

Journal title :

Neurology

Abbreviated title :

Neurology

Volume number :

101

Pages :

e966-e977

Publisher :

American Academy of Neurology

Publication date :

2023-07-15

ISSN :

1526-632X

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

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 ...
Show more >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.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille
Inserm
CHU Lille

Collections :

• Lille Neurosciences & Cognition (LilNCog) - U 1172

Submission date :

2024-01-15T22:41:56Z
2024-07-10T10:01:28Z