DTX401 Gene Therapy in Glycogen Storage Disease (GSD) Type Ia



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Our team at the Congenital Hyperinsulinism Center at CHOP is working on a research study to determine whether an experimental gene therapy product, DTX401, is safe and effective in people with glycogen storage disease type Ia (GSDIa). The FDA has not approved this drug for the treatment of GSDIa but has approved us to use this drug as part of this clinical trial. The purpose of this research study is to see if DTX401 can help people with GSDIa have normal blood sugar levels and fewer episodes of hypoglycemia. DTX041 works by delivering copies of the G6PC gene to your liver through a one-time infusion. Participation in this study will last for 2 years and will involve 30 study visits. It is possible that treatment with the study drug infusion may improve your blood sugar levels. Travel costs will be covered by the study and you will receive compensation for participating.

Who Do I Contact?

If you are interested in participating in the study or want to learn more please contact our study team at HIResearch [at] chop.edu or 267-426-9915.

Eligibility & Criteria

IRB #:
Official Title:
A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study Of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer Of Glucose-6-Phosphatase In Patients With Glycogen Storage Disease Type Ia
Study Phase:
Phase III
Eligible Age Range:
8 - 99 Years
Study Categories:

Visit Criteria

If you agree to take part, your participation will last for 2 years and will involve 30 study visits (some in person and some at home).
At the beginning of the study you will receive either the study drug, DTX401, or placebo (an inactive substance that does not contain the study drug); at week 48 you will receive the opposite of what you received at the beginning of the study.
Your study doctor will not know which order you received the study drug or placebo, only the independent oversight committees will know.
As a participant you will:

  • Receive a study drug and a placebo (you will not know which one you receive first);
  • Have 9 extra inpatient admissions that will require 1-2 night stays in the hospital
  • Receive oral steroids and steroid placebo for at least 4 weeks
  • Have 20 extra research clinic visits or home visits
  • Participate in at least 9 fasting challenges