Allogeneic haematopoietic stem cell transplantation in late-onset metachromatic leukodystrophy

Clicks: 16
ID: 329388
2026
Free PDF
Article Quality & Performance Metrics
Overall Quality
Not rated
Combines reader engagement with the AI quality analysis. This article has not been analysed, so there is no overall score — reader engagement is measured and shown alongside.
AI Quality Assessment
Not analyzed
Readership in this journal
Emerging

Ranked #108 of 406 articles by views in Brain research

Most read Least read

Bar heights use a square-root scale. Only the 120 most-read articles are drawn; the journal has 406 in total.

Mint this article as an NFT
Not yet minted

Create a permanent, verifiable on-chain record of this article on the Scimatic Network. The NFT is held in your Journament account, and you can withdraw it to your own wallet at any time.

5 SUSD one-off · no wallet required
Sign in to mint
Abstract
Metachromatic leukodystrophy (MLD) is a progressive neurometabolic disease which can be treated with hematopoietic stem cell transplantation (HSCT). With emerging therapies like gene therapy, understanding the effectiveness of HSCT in late-onset forms has become increasingly important. Late-onset forms are rare, and the limited evidence on eligibility and outcomes complicates treatment decisions. The aim was to compare the long-term outcomes of the largest European cohort of HSCT-treated and untreated late-juvenile and adult MLD patients. In this observational multi-center registry-based study, retrospective and prospective data from the MLD initiative registry were used. Late-onset patients with a confirmed diagnosis from nine European centers were included. We analysed clinical and patient-reported outcomes. Patients were grouped by symptom status at diagnosis, and we performed visual outcome assessment and regression analysis. Fifteen pre-symptomatic HSCT-treated patients were compared with 37 early or advanced symptomatic HSCT-treated, and 79 untreated late-onset MLD patients. Patients were followed for up to 25 years after diagnosis, with median follow-ups of 14.5 (5.1-17.9), 5.6 (2.8-12.5) and 9.0 (3.3-17.1) years and median ages at follow-up of 30.0 (23.6-35.0), 23.5 (18.0-30.8), and 27.8 (17.7-40.0) for pre-symptomatic HSCT, symptomatic HSCT, and untreated patients, respectively. Advanced disease stage (ADS) was observed in 4/15 (27%) of pre-symptomatic HSCT, 29/37 (78%) symptomatic HSCT, and 57/79 (72%) of untreated patients (p=0.004). HSCT appears to delay ADS (HR 1.49 95%CI 0.96-2.30) and improves quality-of-life and daily life functioning measures. HSCT has a positive effect on the course of the disease, especially in pre-symptomatic patients, but cannot always prevent the progression of symptoms. Quality-of-life improves across all stages of the disease, with pre-symptomatic treatment yielding the greatest benefits. These findings emphasize the importance of early diagnosis and intervention. This study may inform treatment decisions and provides an evidence base for future comparison with innovative therapies.
Reference Key
openalex_W7213921339 Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Daphne H. Schoenmakers, Mareen R. Datema, Shanice Beerepoot, Marije A B C Asbreuk, Caroline Gertrud Bergner, Carolin Awissus, Annette Bley, Helen Sigel, Janna Bredow, Valeria Calbi, Francesca Fumagalli, Emilia Inverso, Erik Axel Eklund, Sabine Weller Grønborg, Wietske H M Grol, Cecilie Videbaek, Christiane Kehrer, Marjo S. van der Knaap, Nick Schnermann, Hendrik Rosewich, Peter Lang, Peter M van Hasselt, Caroline A. Lindemans, Moniek de Witte, Mirjam Langeveld, Ludger Schöls, Jaap Jan Boelens, Päivi Vieira, Johanna Uusimaa, Fanny Mochel, Caroline Sevin, Carla E M Hollak, Samuel Groeschel, Nicole I Wolf
Journal Brain research
Year 2026
DOI
10.1093/brain/awag323
URL
https://doi.org/10.1093/brain/awag323
Keywords Keywords not found

Citations

No citations found. To add a citation, contact the admin at info@scimatic.org

Comments

No comments yet. Be the first to comment on this article.