Successful cord blood transplantation using a reduced-intensity conditioning regimen for advanced childhood-onset cerebral adrenoleukodystrophy.
The CCALD, which is caused by a mutation of the ABCD1 gene that encodes a peroxisomal membrane protein, progresses to a stage where the patient is in a vegetative state and can cause death within 3-5 yr after the appearance of neurological symptoms. Although HSCT is the only means of preventing the progression of this disease, HSCT is currently recommended only for cases diagnosed in the early stages. Previous reports on HSCT in advanced CCALD have indicated that the complications of the HSCT procedure seem to outweigh its benefits with respect to survival and neurological outcome. In this case, we successfully treated advanced CCALD with CBT using a reduced-intensity conditioning regimen to reduce regimen-related toxicity and transplant-associated morbidity and mortality. Neither neurological deterioration nor deterioration of MRI abnormalities were observed during the clinical course. We report that CBT using the reduced-intensity conditioning regimen was well tolerated, stopped disease progression and contributed to a good neuropsychological outcome in this case of advanced CCALD.
Awaya
Tomonari
T
Department of Pediatrics, Kyoto University, Kyoto, Japan HLA Laboratory, Kyoto, Japan.
Kato
Takeo
T
Niwa
Akira
A
Hiramatsu
Hidefumi
H
Umeda
Katsutsugu
K
Watanabe
Ken-Ichiro
K
Shibata
Minoru
M
Yamanaka
Yasunari
Y
Maruya
Etsuko
E
Saji
Hiroh
H
Nakahata
Tatsutoshi
T
Adachi
Souichi
S
D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000326:Adrenoleukodystrophy / Q000628:therapy*; D001927:Brain Diseases / Q000628:therapy*; D002648:Child; D036101:Cord Blood Stem Cell Transplantation / Q000379:methods*; D018450:Disease Progression; D005312:Fetal Blood / Q000166:cytology*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009154:Mutation; D009483:Neuropsychological Tests; D013997:Time Factors; D019172:Transplantation Conditioning / Q000379:methods*; D016896:Treatment Outcome
C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters