Priority 5 from the Mitochondrial Disease PSP

UNCERTAINTY: Could gene therapy help people with mitochondrial disease? (JLA PSP Priority 5)
Overall ranking	5
JLA question ID	0095/5
Explanatory note	Not available
Evidence	None identified
Health Research Classification System category	Metabolic and Endocrine

Extra information provided by this PSP
Original uncertainty examples	Role of gene therapy ~ I’d like to see treatment that effectively shift heteroplasmy level for mtDNA patients ~ what treatment is there and also we were told of gene removal for going forward if we had p any more plans ~ Development of current treatment options (eg idebenone), other drug treatments, and genetic therapy possibilities. ~ What are the best medicines available. Will gene therapy ever be an option.~ how enzyme replacement therapies, ASO, and gene therapies can help mito patients. ~ There is no coordinated approach to developing new treatments, and more importantly in developing robust evidence for efficacy. If the NHS is to fund any new treatments this evidence base is required. Disease-modifying and disease-correcting therapies are required, and focus on gene therapy/ gene correction treatments should be a priority.
Submitted by	4 x Healthcare Professionals, 6 x Carers, 3 x Patients

Extra information provided by this PSP

Original uncertainty examples

Role of gene therapy ~ I’d like to see treatment that effectively shift heteroplasmy level for mtDNA patients ~ what treatment is there and also we were told of gene removal for going forward if we had p any more plans ~ Development of current treatment options (eg idebenone), other drug treatments, and genetic therapy possibilities. ~ What are the best medicines available. Will gene therapy ever be an option.~ how enzyme replacement therapies, ASO, and gene therapies can help mito patients. ~
There is no coordinated approach to developing new treatments, and more importantly in developing robust evidence for efficacy. If the NHS is to fund any new treatments this evidence base is required. Disease-modifying and disease-correcting therapies are required, and focus on gene therapy/ gene correction treatments should be a priority.

Submitted by

4 x Healthcare Professionals, 6 x Carers, 3 x Patients

PSP information
PSP unique ID	0095
PSP name	Mitochondrial Disease
Total number of uncertainties identified by this PSP.	42 (To see a full list of all uncertainties identified, please see the detailed spreadsheet held on the JLA website)
Date of priority setting workshop	19 January 2020