Blood: Long-term neurodevelopmental results of hematopoietic stem cell transplantation to treat krabbe disease in late-haired infants

Krabb disease, also known as Krabbe disease, is also known as infant familial diffuse sclerosis according to its clinical characteristics.
Krabbe disease is a rare neurodegenerative disease, an often chromosomal recessive genetic metabolic disease caused by a lack of semi-lactose cerebroside-β-semi-lactose glycosidease, mainly affecting the whiteness of the brain.
the prognosis of the disease is very poor, infant patients often died within 1 year of age.
late-night hairer can live up to about 10 years old.
effective treatment is hematopoietic stem cell transplantation (HSCT).
about 85 per cent of Krabbe cases are infant subsypes, of which about 20 per cent are advanced-baby.
previous studies have shown that HSCT is effective in asymptomatic early infants (0-6 months old) compared to asymptomatic transplant recipients.
, however, there has been no study to assess the efficacy of HSCT in patients with advanced-infant (6-36 months).
this forward-looking longitudinal study, Krabbe patients treated in a single location under standardized programmes were evaluated.
use Kaplan-Meier method for survival analysis.
use a hybrid regression model to estimate the differences between groups.
19 patients with advanced infants and young children received hematopoietic stem cell transplants (1997-2020).
patients who received transplants survived longer and improved cognitive and language function compared to untreated patients.
and fine movement development were most affected, and the prognosm difference was large.
asymptomatic patients benefit most from transplantation, with normal or near-normal development in all aspects and only some large movement delays.
patients who had symptoms at the time of the transplant had better cognitive outcomes than those who became ill after 12 months of age than those who did not.
who became ill within 12 months of age had similar prognosis to those of untreated patients.
, the study showed that hematopoietic stem cell transplants extended the lifespan of patients with advanced Krabbe disease and improved their basic cognitive and speech skills, especially those who received transplants before symptoms appeared.
addition, the results support the previously proposed classification method of reclassifying advanced Krabbe disease as a symptom attack of 12-36 months of age.
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