通过脑脊液内液体基因治疗实施的黏多糖病 IIIA全身纠正

Introduction

Most lysosomal storage diseases (LSDs), particularly those affecting the CNS lack effective therapies beyond supportive treatment, resulting, in most cases, in the death of patients at an early age. The ultimate goal in the treatment of disorders that affect diffuse areas of the CNS is to achieve global distribution of the therapeutic agent, while minimizing the delivery-associated risks. The BBB, however, constitutes a major obstacle to attaining this goal, as it prevents efficient delivery to the CNS of most systemically dispensed molecules (1).

Mucopolysaccharidosis type IIIA (MPS IIIA), or Sanfilippo syndrome IIIA, is an autosomic recessive LSD caused by the defic