Allogeneic hematopoietic stem cell transplantation for inherited disorders: experience in a single center.

[adrenomyeloneuropathy]

Allogeneic hematopoietic stem cell transplantation (ASCT ) is a possible cure for many inherited disorders .We report 20 years of experience in 71 patients . The disorders include 7 immunodeficiencies , 21 hematological disorders , 13 histiocytic disorders , 9 mucopolysaccharoidoses , 7 metachromatic leukodystrophies (MLD ), 3 adrenoleukodystrophies (ALD ), 2 adrenomyeloneuropathy (AMN ), 6 patients with Gaucher 's disease , 1 Sandhoff 's disease , and 2 patients with aspartylglucosaminuria . Their median age was 4 (0 -39 ) years . The donors were 29 HLA-identical related , 27 matched unrelated (MUD ) and 15 HLA mismatches .In recipients of HLA-identical sibling grafts , none developed acute GVHD grades II -IV as against 22 % in all others . The overall cumulative incidence of chronic GVHD was 17 %. The 5 -year survival rates were 93 %, 84 %, and 46 % in recipients of grafts from HLA-identical siblings , MUD and HLA-mismatches , respectively . The overall 10 -year survival rate was 69 %. All of the surviving patients with immunodeficiencies and hemoglobinopathies are well . Four patients with Hurler 's disease are also well , apart from skeletal problems . Five patients with Gaucher 's disease are between 14 and 22 years after the transplant . Two infants with MLD deteriorated , a girl with the juvenile form has stable disease and one woman with the adult form has improved . Among four survivors with ALD /AMN , three are well and one has dementia . Two patients with aspartylglucosaminuria have stable disease .In patients with inborn errors of metabolism , ASCT gives a high survival rate using HLA-matched donors . Beneficial effects are seen in those who are transplanted early .

Diseases
Validation

Diseases presenting "aspartylglucosaminuria" symptom

adrenomyeloneuropathy

gm1 gangliosidosis

This symptom has already been validated