Table 2 Haematopoietic stem cell transplantation and long-term outcome.

From: Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients

Age at HSCT in months (median, IQR), n = 51

18 (14–25)

Pre-transplant DQ evaluation (Brunet–Lézine scale), n = 37

Year of HSCT (median, IQR), n = 51

2009 (2002–2012)

 DQ ≥ 85

 

17/37 (46%)

HSCT typea (n, %), n = 45

 

 70 ≤ DQ < 85

 

16/37 (43%)

 Matched sibling donor (MSD)b

10/45 (22%)

 DQ < 70

 

4/37 (11%)

 Matched unrelated donor (MUD)

20/45 (44%)

Early outcome (<1 year after HSCT), n = 51

  

 Mismatched unrelated donor (MMUD)

14/45 (31%)

 Rejection of HSCT (n, %)

 

8/51 (16%)

 Othersc

1/45 (2%)

 Acute GVHDe

 

29/49 (59%)

Stem cell source (n, %), n = 48

 

 Chronic GVHDf

 

7/49 (14%)

 Bone marrow

32/48 (67%)

 Viral replicationg

 

16/49 (33%)

 Cord blood unit

16/48 (33%)

 Transplant-related mortality (n, %)

 

4/51 (8%)

HSCT conditioning regimen (n, %), n = 43

 

Long-term outcome (≥1 year after HSCT), n = 47

  

 Busulfan - fludarabine - ATG

16/43 (37%)

 Death from disease progression (n, %)

 

1/47 (2%)

 Busulfan - cyclophosphamide - ATG

20/43 (47%)

 Follow-up after HSCT in years (median, IQR)

 

9 (8–16.5)

 Busulfan - cyclophosphamide

5/43 (12%)

 Chimerism on whole bloodh

<95% donor

7/45 (16%)

 Othersd

2/43 (4%)

 

≥95% donor

38/45 (84%)

Graft CD34+ cell dose (median, IQR)

 

α-L-Iduronidase activityi

<80% fo control values

12/42 (29%)

 Bone marrow (in 106 CD34+ per kg), n = 20

8 (5.7–17.4)

 

≥80% of control values

30/42 (71%)

 Cord blood unit (in 105 CD34+ per kg), n = 10

3 (1.8–3.7)

 Urinary GAG quantificationj

Elevated

12/41 (29%)

Pre-transplant ERT (after 2004)

  

Within normal range

29/41 (71%)

 Use of pre-transplant ERT (n, %)

31/37 (84%)

 Substitutive ERT at last follow-up

 

6/47 (13%)

 Duration in weeks (median, IQR), n = 31

12 (8.5–18)

   
  1. Long-term follow-up was analyzed in patients who survived beyond the first year after transplantation (n = 47).
  2. ATG Anti-thymocyte globulin, DQ Developmental quotient, ERT Enzyme replacement therapy, GAG Glycosaminoglycans, GvHD Graft vs. host disease, HSCT Haematopoietic stem cell transplantation, IQR Interquartile range
  3. aType of the 2nd HSCT, if initial rejection.
  4. bIDUA mutation carrier (n = 7), non-carrier (n = 1), missing data (n = 2).
  5. cMismatched family donor (MMFD, Haploidentical) n = 1.
  6. dBusulfan – cyclophosphamide – fludarabine – ATG (n = 1); Irradiation – cyclophosphamide – fludarabine (n = 1).
  7. eCutaneous (n = 27/29, 93%), digestive (n = 11/29, 38%), hepatic (n = 2/29, 7%) with 8 patients (n = 8/49, 16%) having GvHD ≥ grade III.
  8. fCutaneous (n = 7/7, 100%), digestive (n = 4/7, 57%), hepatic (n = 3/7, 43%) and/or pulmonary (3/7, 43%) with 3 patients (n = 3/49, 6%) having GvHD ≥ grade III.
  9. gViral replication with a need for antiviral or rituximab treatment: EBV (n = 11/16, 69%), adenovirus (n = 6/16, 38%), CMV (n = 2/16, 13%), HHV6 (n = 1/16, 6%), HSV encephalitis (n = 1/16, 6%).
  10. hMixed chimerism (n = 7): median 78%, range 0–92%.
  11. iLast value available or before resuming ERT. Exclusion of the two patients continuously treated with ERT since HSCT.
  12. jNormal values according to age and laboratory reference ranges.
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