Bone marrow transplantation for Sanfilippo disease type B

Abstract

Allogeneic bone marrow transplantation was performed on twins with Sanfilippo B disease. They were the first two patients with this disorder to undergo the procedure. There was definite evidence of engraftment as shown by conversion to donor blood group antigen and tissue type, and increased leukocyte alpha-glucosaminidase activity. Nine years post transplant, neither twin is as handicapped as her untreated brothers were at the same age, although in one twin hyperactivity and behavioural problems, characteristic of the disorder, are present. Details of the twins' intellectual development and growth, their alpha-glucosaminidase activity and urinary glycosaminoglycan excretion are reported.

Trends in haematopoietic cell transplantation for inborn errors of metabolism

“…In contrast, for some others, available data suggests that successful HCT failed to ameliorate disease progression (e.g. Hunter-Sanfilippo syndrome and symptomatic MLD) and is therefore not an appropriate indication for HCT (Klein et al 1995;Vellodi et al 1992;Wall et al 1998). This again indicates that the exact mechanism of effective HCT for IEMs is not clear.…”

Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines

“…15 Successful HCT performed early in the MPS III disease course does not seem to ameliorate neuropsychological deterioration significantly. [44][45][46] …”

Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: influence of cellular composition of the graft on transplantation outcomes

“…1 In the past 25 years, nearly a thousand patients with these types of storage disorders, including mucopolysaccharidosis (MPS) type I (Hurler syndrome), other MPS, adrenoleukodystrophy (ALD), metachromatic leukodystrophy (MLD), Krabbe disease, and others have received allogeneic hematopoietic stem cell transplantation (HSCT) with bone marrow from matched or mismatched related donors who were either carriers or noncarriers of the disease, resulting in clinical benefit in many of them. [2][3][4][5][6][7][8][9][10][11][12][13][14][15][16] The benefit is primarily derived from the replacement of missing enzyme produced by donor cells circulating in the blood and also from engraftment of donor-derived glial cells in the brain. [16][17][18][19] However, many children with IMDs who could benefit from HSCT do not have a matched bone marrow donor.…”