Priority 1 from the Liver Glycogen Storage Disease (International) PSP
| UNCERTAINTY: What are the best options (for example gene therapy or enzyme replacement therapy) for achieving sufficient amount of working enzyme in patients with liver Glycogen Storage Disease? (JLA PSP Priority 1) | |
|---|---|
| Overall ranking | 1 |
| JLA question ID | 0090/1 |
| Explanatory note |
There are several option for "curing" patients with liver GSD, one of which (gene therapy) is currently under development. This question emphasizes that research into a cure for patients with liver GSD is the top priority. |
| Evidence |
For details of the evidence checked, please see the spreadsheet held on the JLA website. |
| Health Research Classification System category | Metabolic and endocrine |
| Extra information provided by this PSP | |
|---|---|
| Original uncertainty examples | I´d like to know about can crisper cas technolgie could matter possibility of genetherapie for GSD? Who researches in this field? ~ With gene therapy and liver transplantation, are hypoglycaemias avoided and cornstarch dispensed or can they have a diet rich in lactose, fructose and sucrose? ~ realistic alternatives to AAV8 gene therapy. |
| Submitted by | Patient, carer and healthcare professionals |
| PSP information | |
|---|---|
| PSP unique ID | 0090 |
| PSP name | International Glycogen Storage Disease PSP |
| Total number of uncertainties identified by this PSP | 72 (To see a full list of all uncertainties identified, please see the detailed spreadsheet held on the JLA website) |
| Date of priority setting workshop | 24 May 2019 |