Priority 16 from the Mitochondrial Disease PSP

UNCERTAINTY: What can prevent the start of mitochondrial disease in people with a genetic mutation? (JLA PSP Priority 16)
Overall ranking 16
JLA question ID 0095/16
Explanatory note Not available
Evidence

https://pubmed.ncbi.nlm.nih.gov/31091381%20https://pubmed.ncbi.nlm.nih.gov/30319102%20
https://pubmed.ncbi.nlm.nih.gov/29950320%20
https://pubmed.ncbi.nlm.nih.gov/28415858/

Health Research Classification System category Metabolic and Endocrine
Extra information provided by this PSP
Original uncertainty examples how to prevent clinical disease onset ~ New treatments to prevent clinical disease from developing in those at risk ~ Does early diagnosis and treatment with new drugs prevent blindness in patients who are carriers of mitochondrial mutations predisposing to LHON? ~ How can we prevent first eye involvement? ~ What to avoid [TRIGGERS FOR LHON] ~ Can triggers be avoided? Is it possible to avoid triggering the condition? ~ treatment options, information on disease progression, screening for potential complications to treat them early, options to prevent disease ~ To what extent do non genetic components influence disease phenotype and to what extent can these be influenced. ~ Prevention/ control of these factors ?! [TRIGGERS] ~ Are there known risk factors that could have prevented this disease?
Submitted by

6 x Healthcare Professional, 3 x Carer, 1 x Patient

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