NEJM: Autologous Hematopoietic Stem Cell Gene Therapy for Treatment of Children with Mucopolysaccharidosis Type I

Mucopolysaccharidosis type I (MPSI, also known as Hurley’s syndrome) is a rare disease of autosomal recessive inheritance, caused by a deficiency of α-L-iduronidase (IDUA), which can cause all Excessive accumulation of glycosaminoglycans in organs and tissues can be life-threatening
.

Although enzyme replacement therapy can relieve the symptoms of patients, allogeneic hematopoietic stem cell transplantation is still the standard treatment for MPSI.

Stem cell researchers have recently investigated the therapeutic effects of autologous hematopoietic stem cells and progenitor cells (HSPCs) gene therapy on children with MPSI

Eight MPSI patients participated in the study, and the patients lacked matching hematopoietic stem cell donors
.

The researchers used lentivirus as a vector to integrate α-L-iduronidase into the autologous hematopoietic stem cells of children through in vitro transduction

This study is the conclusion of a mid-term study.
The average age of children receiving HSPCs gene therapy is 1.
9 years old
.

After 2 years of follow-up, the safety of this method is similar to that of known autologous hematopoietic stem cell transplantation

The child's urine glycosaminoglycan (GAG) level dropped sharply.

Cognitive and motor functions of the children improved significantly after treatment

The cognitive and motor functions of the children are significantly improved after treatment.
The cognitive and motor functions of the children are significantly improved after treatment.

Studies believe that HSPCs gene therapy enables children with mucopolysaccharidosis type I to continuously and stably express α-L-iduronidase, and correct symptoms of peripheral tissues and central nervous system
.

HSPCs gene therapy enables children with mucopolysaccharidosis type I to continuously and stably express α-L-iduronidase and correct symptoms of peripheral tissues and central nervous system
.

HSPCs gene therapy enables children with mucopolysaccharidosis type I to continuously and stably express α-L-iduronidase and correct symptoms of peripheral tissues and central nervous system

Original source:

Bernhard Gentner et al.

Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome.
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