Hematopoietic stem cell transplantation in the leukodystrophies: a systematic review of the literature.
OBJECTIVE
The objective of this study is to systematically review the literature on worldwide numbers of leukodystrophy patients undergoing hematopoietic stem cell transplantation (HSCT) as well as the safety and efficacy of the procedure in this patient population.


METHODS
A PubMed and EMBASE search up to June 2012 was conducted with a manual search of references from relevant articles. Selected studies were evaluated using internationally accepted criteria. The effect estimates of HSCT upon survival in early-stage disease versus late-stage disease were compared.


RESULTS
One hundred and fifty-two studies qualified for inclusion and reported on a total of 689 patients. Study quality ranged from poor to good; no study was rated excellent. Small sample sizes limited most studies. Meta-analysis in a subset of larger studies indicates that transplantation in earlier stages of disease fairs better than in the late stages. Beyond survival, little longitudinal data on functional outcome is reported and neurological outcome is sparse.


CONCLUSIONS
Further studies are needed to determine the neurological outcome following HSCT in the leukodystrophies. HSCT in the early stages of cerebral disease is still recommended for select leukodystrophies.
Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, United States.
Patricia L
PL
Musolino
Division of Pediatric Blood and Marrow Transplantation, University of Minnesota, Minneapolis, Minnesota, United States.
Troy C
TC
Lund
Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, United States.
Jessica
J
Pan
Department of Pediatrics, University of Pittsburgh, One Children's Hospital Drive, Pittsburgh, Pennsylvania, United States.
Maria L
ML
Escolar
Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, United States.
Asif M
AM
Paker
Dana-Farber Cancer Institute, Boston Children's Hospital, Boston, Massachusetts, United States.
Christine N
CN
Duncan
Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, United States.
Florian S
FS
Eichler
D016208:Databases, Factual; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000601:surgery*