“Growth patterns in children with mucopolysaccharidosis type I-Hurler after hematopoietic stem cell transplantation: Comparison with untreated patients”

Abstract

The impact of hematopoietic stem cell transplantation (HSCT) on growth in patients diagnosed with mucopolysaccharidosis I Hurler (MPS-IH) has been historically regarded as unsatisfactory. Nevertheless, the growth patterns recorded in transplanted patients have always been compared to those of healthy children. The objective of this study was to verify the impact of HSCT on MPS-IH long term growth achievements. The auxological data of 15 patients were assessed longitudinally and compared both to the WHO growth centiles for healthy individuals and to recently published curves of untreated MPS-IH children. Despite a progressive decrease after HSCT when estimated with reference to the WHO growth charts, median height SDS showed a progressive and statistically significant increase when comparing the stature recorded at each timepoint in our population to the curves of untreated MPS-IH individuals (from ‐0.39 SDS at t 0 to +1.35 SDS 5 years after HSCT, p value < 0.001 and to +3.67 SDS at the age of 9 years, p value < 0.0001 ). In conclusion, though not efficient enough to restore a normal growth pattern in MPS-IH patients, we hereby demonstrate that HSCT positively affects growth and provides transplanted patients with a remarkable height gain compared to untreated gender- and age- matched individuals.

Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from a 10‐year prospective study

“…Few studies have specifically evaluated adult height. A recent study included 7 individuals with MPS IH treated with HCT who had achieved adult height and reported that 6 of these 7 patients had short stature 22 . Similarly, we found that 100% of participants with MPS IH who had reached adult height ( n = 11) had short stature.…”

“…Although growth in MPS I, II, or VI after HCT or during treatment with ERT has been reported by others, our study is unique because of the prospective data collection that included extensive anthropometric measurements. For MPS IH, prior studies following patients after HCT have reported early improvements in growth but then progressive growth failure resulting in a high prevalence of short stature 20–22 . Few studies have specifically evaluated adult height.…”

“…For MPS IH, prior studies following patients after HCT have reported early improvements in growth but then progressive growth failure resulting in a high prevalence of short stature. [20][21][22] Few studies have specifically evaluated adult height. A recent study included 7 individuals with MPS IH treated with HCT who had achieved adult height and reported that 6 of these 7 patients had short stature.…”

MPSI Manifestations and Treatment Outcome: Skeletal Focus

“…Although HSCT fails to restore a normal growth pattern, transplanted MPSI patients presented a remarkable height gain compared to untreated gender- and age-matched individuals [ 174 ]. A trial of recombinant human growth hormone may be appropriate in children with MPSI or II that present with severe short stature and growth failure.…”

Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities

“…Its main limitation is that it does not cross the blood-brain barrier and has little effect on already established bone deformities and cardiac valves damage. Haematopoietic Stem Cell Transplantation (HSCT) is, at present, the standard-of-care for severe MPS I diagnosed before the age of 2 and with an IQ > 70, as it provides a remarkable improvement in cognitive outcome and growth pattern [3,4].…”