Glycogen storage disease type Ia
Conditions
Interventions
Gene Therapy Products: DTX401
On Day1, subjects will receive a single, open-labeled, peripheral IV infusion of DTX401.
Sponsors
Kajiwara Makoto
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: - Male and female patients >= 8 years of age at the time of informed consent or assent. - Subject has a diagnosis of GSDIa confirmed by deficient enzymatic activity (on liver biopsy), or by molecular testing of G6PC gene revealing 2 pathogenic mutations. In the case where only a single pathogenic mutation is identified, clinical diagnosis is compatible with GSDIa and absence of characteristic features of GSDIb (ie, chronic neutropenia, inflammatory bowel disease). - Subject is currently receiving a therapeutic regimen of cornstarch (or equivalent), following international guidance/recommendations with stable nutrition, glycemic, and clinical status.
Exclusion criteria
Exclusion criteria: - Detectable pre-existing antibodies to the AAV8 capsid during Screening. - History of liver transplant, including hepatocyte cell therapy/transplant. - History of severe hepatic fibrosis or cirrhosis as evidenced by any of the following: portal hypertension, ascites, splenomegaly, esophageal varices, hepatic encephalopathy, or a liver biopsy with evidence of stage III fibrosis. - Presence of liver adenoma > 5 cm in size or presence of liver adenoma > 3 cm and == 0.5 cm per year. - Significant hepatic injury or dysfunction as evidenced by imaging or any of the following laboratory abnormalities. -Alanine aminotransferase (ALT) or aspartate aminotransferase (AST) > 2.5 X the upper limit of normal (ULN) -Total bilirubin > ULN unless the subject has Gilbert syndrome -Alkaline phosphatase > ULN, with gamma-glutamyl transferase > ULN - Non-fasting triglycerides greater than or equal to 1000 mg/dL. For the purposes of this study, non-fasting refers to the longest fasting period that each individual subject is able to tolerate. - Current or previous participation in another gene transfer study. Note: Additional inclusion/exclusion criteria may apply, per protocol.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| - To evaluate the efficacy of DTX401 to reduce or eliminate dependence on exogenous glucose replacement therapy needed to maintain glucose control | — |
Secondary
| Measure | Time frame |
|---|---|
| - To evaluate the effect of DTX401 on reducing the frequency of exogenous glucose replacement therapy - To evaluate the effect of DTX401 on glucose control - To evaluate the effect of DTX401 on subject experience of disease - To evaluate the effect of DTX401 on glucose control - To evaluate the safety of DTX401 | — |
Countries
Brazil, Canada, Denmark, Germany, Italy, Japan, Netherland, Spain, United States
Contacts
Public ContactMakoto Kajiwara
PPD-SNBL K.K.
Outcome results
None listed