Mitochondrial disease PSP Question Verification Form


Published: 20 May 2020

Version: 1

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The purpose of this Question Verification Form is to enable Priority Setting Partnerships (PSPs) to describe clearly how they checked that their questions were unanswered, before starting the interim prioritisation stage of the process.

The JLA requires PSPs to be transparent and accountable in defining their own scope and evidence checking process. This will enable researchers and other stakeholders to understand how individual PSPs decided that their questions were unanswered, and any limitations of their evidence checking.  

Name of the PSP

Mitochondrial disease PSP

Please describe the scope of the PSP

The scope of the Mitochondrial Diseases PSP is defined as:

  • primary mitochondrial disease*
  • affected adults and children of all ages, and their families/carers
  • natural history of the conditions;
  • care, treatment and management including supplements, alternative medicine and psychological support

The PSP will exclude from its scope questions about:

  • non-primary mitochondrial disease
  • diagnosis

Please provide a brief overview of your approach to checking whether the questions were unanswered

- all questions checked by a post-doc using PubMed.
- outcomes reviewed by clinicians on steering group e.g. was more than one study found, did it fully or only partially answer the question, were search terms appropriate
- further searching through PubMed carried out by clinicians on steering group for unclear/partially answered questions
- any questions that were still seen as problematic were reviewed by the multi-disciplinary team at the Highly Specialised Mitochondrial Service in Newcastle to decide whether to take them forward.

Please list the type(s) of evidence you used to verify your questions as unanswered

Published, peer-reviewed literature.

Please list the sources that you searched in order to identify that evidence

All journals on PubMed.
Google scholar.

What search terms did you use?

((Mitochondrial disease) AND mutations)
(mitochondrial disease) AND genetics
(((primary mitochondrial disease)) AND mutation) AND progression
"Mitochondrial Diseases/therapy"[MAJR]
genetic mutations that cause mitochondrial disease
how do mutations lead to mitochondrial disease/ pathophysiology
genetics of mitochondrial disease
mutations in mitochondrial DNA leading to disease
(mitochondrial disease) AND (heteroplasmy)
("Mitochondrial Diseases/diagnosis"[MAJR]) AND "Disease Progression"[MAJR]
“biological mechanisms and mitochondrial disease progression” (367 hits but no relevant studies)
((Mitochondrial disorder) AND Biomarker)
(Heteroplasmy disease burden)
“different genetic mutations and causation and mitochondrial disease symptoms”
(Mitochondrial disease genetics)
LHON + triggers
Cigarette smoking and LHON
MELAS+ triggers
CoEnzyme Q10 deficicency and MELAS (not clinical)
Mitochondrial + triggers
(mitochondrial disease) AND care
(mitochondrial disease care terminal)
Mitochondrial disease terminal care end of life
((primary mitochondrial disease) AND exercise)
(mitochondrial disease) AND diet
PubMed search "Mitochondrial Diseases/therapy"[MAJR]
Mitochondrial disease lifestyle stress employment
"Disease Progression"[MAJR])) AND "Mitochondrial Diseases/diagnosis"[MAJR]
penetrance in mitochondrial diseases
severity of disease in mitochondrial diseases
predicting disease severity in mitochondrial disease
(primary mitochondrial disease) AND cancer
“Increased prevalence of cancer in mitochondrial disorders”
"Mitochondrial Diseases/prevention and control"[MeSH Terms]
prevention of disease progression in mitochondrial disease
- therapeutic interventions for mitochondrial disease
- treatment of mitochondrial dysfunction
("Fatigue/genetics"[MeSH Terms]) AND "Mitochondrial Diseases/diagnosis"[MAJR]
mitochondrial disease pain management/ muscle pain management
"Mitochondrial Diseases/complications"[MAJR]
mitochondrial disease swallowing digestion dysmotility diet eating
((primary mitochondrial disease) AND pain)
PubMed search ((primary mitochondrial disease) AND exercise)
PubMed search "Mitochondrial Diseases/therapy"[MAJR]
"Mitochondrial Diseases/therapy"[MAJR]
(Mitochondrial disease) (physiotherapy)
- tissue engineering solutions to mitochondrial disease
- repair of cellular damage in mitochondrial disease
- stem cell replacement in mitochondrial disease
-restoration of mitochondrially induced sensorineural deafness
"Mitochondrial Diseases/complications"[MAJR]
"Mitochondrial Diseases/complications"[MAJR] AND cardiomyopathy
("Mitochondrial Diseases/complications") AND Intestinal pseudoobstruction
"deep brain stimulation" mitochon*
"stroke like episode” AND reduce risk

"stroke like episode” AND risk
“long term” “long lasting” AND treatment AND mitochon*
levocarnitine AND "carnitine deficiency” AND benefits
“psychological impacts of mitochondrial disease” and “psychological support for people with mitochondrial disease” and “psychological support and mitochondrial disease”

In some cases, the whole question was inputted to Google scholar.

Please describe the parameters of the search (eg time limits, excluded sources, country/language) and the rationale for any limitations

1988 and later. English only.

Names of individuals who undertook the evidence checking

Kristin Nielsen
Rhys Thomas
Shamima Rahman
Marcela Votruba

On what date was the question verification process completed?