Hematopoietic stem cell transplantation (HSCT) in nine patients with juvenile MLD

Aims: For patients with metachromatic leukodystrophy (MLD), HSCT is presently the only therapeutic option to stop the progress of the disease. Indications for and the chance of success of this risky procedure have remained controversial despite decades of its use. The aim of this study was the recognition of factors that could facilitate decisions to perform this procedure.

Methods: Analysis of the clinical course of nine patients with juvenile MLD before and after HSCT in a single medical center.

Results: From 1991 to 2011, nine patients with juvenile MLD received HSCT. Eight out of nine patients had stable engraftment. One patient without stable engraftment and two further patients died from transplantation-related infections, one from the ongoing progression of MLD. In two patients with late juvenile MLD, there was no further progression of the disease, so that HSCT was regarded as successful. One of these two patients had cognitive and motor deficits already at the time of HSCT, the other one was symptom-free and has remained so for the past 10 years. Three patients with early juvenile MLD showed disease progression after HSCT. Of these, two patients had received HSCT early during the presymptomatic phase, the third one developed gait disturbance around the time of HSCT. All three had been tested normal in psycho-developmental tests.

Conclusion: According to this experience, successful HSCT in MLD remains difficult to predict, and any decision in favor of or against this treatment is highly responsible. Patients with late juvenile MLD may benefit more from HSCT than patients with early juvenile onset. Better decision criteria are urgently needed. Analysis of a larger number of patients receiving HSCT for juvenile MLD from more centers is in progress.