Table 1 Disease and transplant characteristics of Patient 1 and 2

From: Use of Defibrotide to help prevent post-transplant endothelial injury in a genetically predisposed infant with metachromatic leukodystrophy undergoing hematopoietic stem cell gene therapy

Pre-transplant characteristics

Conditioning regimen

 

Age at MLD Diagnosis

Age at Treatment

ARSA gene Mutation analysis

ARSA Activity (n.v. 22–103)

MLD type

Bu AUC

Infused cell dose

Engraftment

        

N > 0.5 × 109/L

PLT > 50 × 109/L

Pt 1

3 months

8 months

465 + 1 G > A c.240dup

1.4 nmol/h/mg

LI pre-symptomatic

84.9 mg h/L

18.2 × 106 CD34 + /kg

day +39

day +109

Pt 2

3 months

9 months

465 + 1 G > A c.240dup

1.4 nmol/h/mg

LI pre-symptomatic

63.4 mg h/L

14.1 × 106 CD34 + /kg

day +43

day +81

  1. Pt patient, ARSA arylsulfatase A, MLD metachromatic leukodystrophy, LI late-infantile, Bu busulfan, AUC area under the curve, N neutrophil, PLT platelet.
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