Staff Profile

I am a Research Associate with 9 years of experience supporting and leading a diverse portfolio of clinical trials in patients with mitochondrial disease.

My research spans interventional and observational studies, the development of non-invasive biomarkers, and the evaluation of treatment response. I also apply qualitative methods to explore patient and caregiver perspectives and undertake evidence synthesis to inform clinical decision-making. In addition, I have contributed to clinical studies across other patient groups, including those with genetic, metabolic, and neurological disorders.

I am actively involved in Patient and Public Involvement and Engagement (PPIE) to shape research priorities and study design, as well as in policy and stakeholder initiatives aimed at raising awareness of mitochondrial disease. As an Open research Champion, I advocate for open research practises across the research lifecycle. 

Qualifications

Certified Clinical Exercise Physiologist – American College of Sports Medicine (ACSM)

PhD Skeletal muscle physiology/ molecular biology – Deakin University, Australia

BSc Exercise and Sports Science (1st Class Hons) – Deakin University, Australia

BSc Exercise and Sports Science – Deakin University, Australia

Current clinical studies

• EMERALD – Evaluating the Tolerability and Efficacy of a Remote Microphone [Assisted Listening Device] in Adult Patients with Mitochondrial Disease; REC: 23/SC/0120
• EXPLORE – Exploring the EXperience of Patients and Caregivers Living with mitOchondRial Stroke‐Like Episodes; Study Protocol
• Mitocare Connect – Unmet needs of Caregivers for Adults with Primary Mitochondrial Disorders; Survey
• Facial imaging – Interrogating mitochondrial dysfunction in facial appearance ad ageing; REC: 18/NE/0331
• C4TR-POLG – Clinical trial readiness for POLG-related mitochondrial disease and ataxia: a prospective, longitudinal study identifying sensitive and ecologically valid biomarkers; REC: 24/LO/0308
• Exercise testing in patients with mitochondrial disease
• STRATIFYHF - Clinical validation of an artificial intelligence-based decision support system for diagnosis and risk stratification of heart failure: a prospective, multicentre longitudinal study; Website

Previous clinical studies – Mitochondrial Disease

CTIMPS:

• KL1333 – Phase 1a/1b Randomised Trial of KL1333 for Mitochondrial Disease; PMID: 39657714
• REN-001 – Open-label study to evaluate the safety and tolerability of 12 weeks treatment with oral REN001 in patients with PMM, with an optional extension of treatment; REC: 21/LO/0877
• AIMM – Acipimox in Mitochondrial Myopathy: randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy; Study Protocol
• Bezafibrate – Metabolic effects of bezafibrate in mitochondrial disease; PMID: 32107855

Natural history:

• PROSPER2B – Prospective Observational Study in Patients with Mitochondrial Depletion Syndrome, RRM2B; REC: 18/WM/0354
• LION – Leigh syndrome- Investigating Outcome measures & Natural history – a prospective, longitudinal cohort study; REC: 20/NE/0231
• Auditory and vestibular function in mitochondrial patients harbouring the m.3243A>G variant; PMID: 39497799
• Lower urinary tract dysfunction in adult patients with mitochondrial disease; PMID: 32969525
• Factors determining disease expression in mitochondrial disease due to m.3243A>G

Diagnostic:

• FiND – Faecal mtDNA heteroplasmy as a non-invasive biomarker in m.3243A>G mitochondrial disease; REC: 21/ES/0075
• MUMRI – Measurement of Twitch Dynamics in Response to Exercise Induced Changes in Mitochondrial Disease Using Motor Unit MRI: A Proof‐of‐Concept Study; PMID: 40204627

Interventional:

• LRD – Phase II feasibility study of the efficacy and acceptability of a low residue diet in adult patients with mitochondrial disease; PMID: 39132075

Outcome measure development:

• Development of the Fatigue PROMIS in adults with primary mitochondrial disease: PROMIS Fatigue Mitochondrial Disease Short Form; PMID: 40460571

Previous clinical studies – Other patient groups

• DiRECT – Primary care weight-management for type 2 diabetes: the cluster-randomised Diabetes Remission Clinical Trial; PMID: 29221645; PMID: 36398460
• OPTIMISTIC – Observational Prolonged Trial In myotonic dystrophy type 1 to Improve Quality of Life – Standards, a Target Identification Collaboration; PMID: 29934199
• GDG – Development of Translational Biomarkers of Glutamate Dysfunction in Brain Tumour Related Epilepsy; REC 17/NE/0236
• PBC – Rituximab for the Treatment of Fatigue in Primary Biliary Cholangitis (formerly Primary Biliary Cirrhosis); PMID: 29733563
• CORS – A novel cardiac output response to stress test developed to improve diagnosis and monitoring of heart failure in primary care PMID: 29943902

Funding

• “MitoCare Connect” – Newcastle upon Tyne Hospitals NHS Foundation Trust: Newcastle Hospitals Dragons’ Den Initiative 2023/24 (Principal investigator).
• “Validation of a mitochondrial DNA (mtDNA) functional polygenic score (PGS) to act as a prognostic tool for fatigue in affected hospital cohorts” – NIHR Newcastle Biomedical Research Centre Interdisciplinary Research Project 2023/24 (Co-investigator).
• “EMERALD Pilot trial: Evaluating the Tolerability and Efficacy of a Remote Microphone (Assisted Listening Device) in Adults with Mitochondrial Disease)” – Sonova AG: Educational Grant 2023 (Lead applicant).
• “EMERALD Pilot study: Evaluating the Tolerability a Remote Microphone in patients with Mitochondrial disease” – Lily-Stoneygate Research Awards Programme: Treatments for Mitochondrial Disease 2021/22 (Co-lead applicant).

Awards

• “Synthesizing A Systematic Review and Meta-analyses into an Outcome Measures Database & Computational Research Platform” – Second prize winner of Newcastle University Open Research Award 2022 (Lead applicant).
• “EXPLORE: Exploring the EXperience of Patients and Caregivers Living with mitOchondRial stroke-like Episodes” – Faculty of Medical Sciences (FMS) Newcastle University: Tilly Hale Award 2022 (Lead applicant).
• “Patients, policy and the pandemic” – Shortlisted for Newcastle University Engagement and Place 2022 Team Award (Joint applicant).
• “EMERALD: Evaluating Mechanisms & Efficacy of Assistive Listening Devices in mitochondrial disease” – Research Design Service North East and North Cumbria (RDS NENC) Public Involvement Fund Scheme 2020 (Lead applicant).

• Articles

  • Clifford S, Stefanetti RJ, Bahar R, Hansson MJ, Gorman GS, Karaa A. Qualitative study of fatigue in adults with primary mitochondrial disease: Development of the PROMIS Fatigue Mitochondrial Disease Short Form. Molecular Genetics and Metabolism 2025, 145(4), 109153.
  • Pizzamiglio C, Stefanetti RJ, McFarland R, Thomas N, Ransley G, Hugerth M, Gronberg A, Serrano SS, Elmer E, Hanna MG, Hansson MJ, Gorman GS, Pitceathly RDS. Optimizing rare disorder trials: A phase 1a/1b randomized study of KL1333 in adults with mitochondrial disease. Brain 2025, 148(1), 39-46.
  • Birkbeck M, Elameer M, Heskamp L, Newman J, Stefanetti R, Barrow I, Pogoryelova O, Gorman G, Hall J, Schofield I, Blamire A, Whittaker R. Measurement of Twitch Dynamics in Response to Exercise Induced Changes in Mitochondrial Disease Using Motor Unit Magnetic Resonance Imaging (MUMRI): A Proof-of-Concept Study. NMR in Biomedicine 2025, 38(5), e70021.
  • Stefanetti RJ, Newman J, Blain AP, Chisari D, Gorman GS, Rance G. Auditory and vestibular function in mitochondrial patients harbouring the m.3243A>G variant. Brain Communications 2024, 6(6).
  • Cassidy S, Trenell M, Stefanetti RJ, Charman SJ, Barnes AC, Brosnahan N, McCombie L, Thom G, Peters C, Zhyzhneuskaya S, Leslie WS, Catt C, Catt M, McConnachie A, Sattar N, Sniehotta FF, Lean MEJ, Taylor R. Physical activity, inactivity and sleep during the Diabetes Remission Clinical Trial (DiRECT). Diabetic Medicine 2023, 40(3), e15010.
  • Houghton D, Ng YS, Jackson MA, Stefanetti R, Hynd P, Aogáin MM, Stewart CJ, Lamb CA, Bright A, Feeney C, Newman J, Turnbull DM, McFarland R, Blain AP, Gorman GS. Phase II feasibility study of the efficacy, tolerability and impact on the gut microbiome of a low residue (fibre) diet in adult patients with mitochondrial disease. Gastro Hep Advances 2022, 1(4), 666-677.
  • Abouhajar A, Alcock L, Bigirumurame T, Bradley P, Brown L, Campbell I, Del Din S, Faitg J, Falkous G, Gorman GS, Lakey R, McFarland R, Newman J, Rochester L, Ryan V, Smith H, Steel A, Stefanetti RJ, Su H, Taylor RW, Thomas NJP, Tuppen H, Vincent AE, Warren C, Watson G. Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy. Trials 2022, 23(1), 789.
  • Tinker R, Lim A, Stefanetti RJ, McFarland R. Current and emerging clinical treatment in mitochondrial disease. Molecular Diagnosis & Therapy 2021, 25, 181-206.
  • Steele H, Gomez-Duran A, Pyle A, Hopton S, Newman J, Stefanetti RJ, Charman SJ, Parikh JD, He L, Viscomi C, Jakovljevic DG, Hollingsworth KG, Robinson AJ, Taylor RW, Bottolo L, Horvath R, Chinnery PF. Metabolic effects of bezafibrate in mitochondrial disease. EMBO Molecular Medicine 2020, 12(3), e11589.
  • Feeney C, Gorman G, Stefanetti R, McFarland R, Turnbull D, Harding C, Sachdeva A. Lower urinary tract dysfunction in adult patients with mitochondrial disease. Neurourology and Urodynamics 2020, 39(8), 2253-2263.
  • Khanna A, Jopson L, Howel D, Bryant A, Blamire A, Newton JL, Wilkinson J, Steel AJ, Bainbridge J, Stefanetti R, Cassidy S, Houghton D, Jones DE. Rituximab for the Treatment of Fatigue in Primary Biliary Cholangitis (formerly Primary Biliary Cirrhosis) A Randomised Controlled Trial. Efficacy and Mechanism Evaluation 2018, 5(2), 1-78.
  • Lean MEJ, Leslie WS, Barnes AC, Brosnahan N, Thom G, McCombie L, Peters C, Zhyzhneuskaya S, Al-Mrabeh A, Hollingsworth KG, Rodrigues AM, Rehackova L, Adamson AJ, Sniehotta FF, Mathers JC, Ross HM, McIlvenna Y, Stefanetti R, Trenell MI, Welsh P, Kean S, Ford I, McConnachie A, Sattar N, Taylor R. Primary care-led weight management for remission of type 2 diabetes (DiRECT): an open-label, cluster-randomised trial. The Lancet 2018, 391(10120), 541-551.
  • Okkersen K, Jimenez-Moreno C, Wenninger S, Daidj F, Glennon J, Cumming S, Littleford R, Monckton DG, Lochmuller H, Catt M, Faber CG, Hapca A, Donnan PT, Gorman G, Bassez G, Schoser B, Knoop H, Treweek S, van Engelen BGM, Kierkegaard M, Okkersen K, Jimenez-Moreno C, Wenninger S, Daidj F, Glennon J, Cumming S, Littleford R, Monckton D, Lochmuller H, Catt M, Faber C, Hapca A, Donnan P, Gorman G, Bassez G, Schoser B, Knoop H, Treweek S, van Engelen B, Nikolaus S, Cornelissen Y, van Nimwegen M, Klerks E, Bouman S, Heskamp L, Heerschap A, Rahmadi R, Groot P, Heskes T, Kapusta K, Abghari S, Aschrafi A, Poelmans G, Raaphorst J, Trenell M, van Laar S, Wood L, Cassidy S, Newman J, Charman S, Steffaneti R, Taylor L, Brownrigg A, Day S, Atalaya A, Schuller A, Stahl K, Kunzel H, Wolf M, Jelinek A, Lignier B, Couppey F, Delmas S, Deux J-F, Hankiewicz K, Dogan C, Minier L, Chevalier P, Hamadouche A, Adam B, Hannah M, McKenzie E, Rauchhaus P, Van Hees V, Catt S, Schwalber A, Merkies I, Dittrich J. Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial. The Lancet Neurology 2018, 17(8), 671-680.
  • Charman SJ, Okwose NC, Stefanetti RJ, Bailey K, Skinner J, Ristic A, Seferovic PM, Scott M, Turley S, Fuat A, Mant J, Hobbs FDR, MacGowan GA, Jakovljevic DG. A novel cardiac output response to stress test developed to improve diagnosis and monitoring of heart failure in primary care. ESC Heart Failure 2018, 5(4), 703-712.
  • Stefanetti RJ, Lamon S, Wallace M, Vendelbo MH, Russell AP, Vissing K. Regulation of ubiquitin proteasome pathway molecular markers in response to endurance and resistance exercise and training. Pflügers Archiv - European Journal of Physiology 2015, 467(7), 1523–1537.
  • Stefanetti RJ, Lamon S, Rahbek SK, Farup J, Zacharewicz E, Wallace MA, Vendelbo MH, Russell AP, Vissing K. Influence of divergent exercise contraction mode and whey protein supplementation on atrogin-1, MuRF1, and FOXO1/3A in human skeletal muscle. Journal of Applied Physiology 2014, 116(11), 1491-502.
  • Stefanetti RJ, Zacharewicz E, Della Gatta P, Garnham A, Russell AP, Lamon S. Ageing has no effect on the regulation of the ubiquitin proteasome-related genes and proteins following resistance exercise. Frontiers in Physiology 2014, 5, 30.
  • Michailidis Y, Karagounis LG, Terzis G, Jamurtas AZ, Spengos K, Tsoukas D, Chatzinikolaou A, Mandalidis D, Stefanetti RJ, Papassotiriou I, Athanasopoulos S, Hawley JA, Russell AP, Fatouros IG. Thiol-based antioxidant supplementation alters human skeletal muscle signaling and attenuates its inflammatory response and recovery after intense eccentric exercise. The American Journal of Clinical Nutrition 2013, 98(1), 233–245.
  • Lamon S, Wallace MA, Stefanetti RJ, Rahbek SK, Vendelbo MH, Russell AP, Vissing K. Regulation of the STARS signaling pathway in response to endurance and resistance exercise and training. Pflügers Archiv - European Journal of Physiology 2013, 465(9), 1317–1325.
  • Vissing K, Rahbek SK, Lamon S, Farup J, Stefanetti RJ, Wallace MA, Vendelbo MH, Russell A. Effect of resistance exercise contraction mode and protein supplementation on members of the STARS signalling pathway. The Journal of Physiology 2013, 591(15), 3749–3763.

• Conference Proceedings (inc. Abstract)

  • Djordje J, Charman SJ, Okwose NC, Stefanetti RJ, Bailey K, Skinner J, Scott M, Mant J, Hobbs FDR, MacGowan GA. Reproducibility of a simple cardiac output response to stress test to diagnose and monitor heart failure in a primary care setting. In: BJGP Research Conference. 2018, London, UK: British Journal of General Practice.

• Reviews

  • Stefanetti RJ, Ng YS, Errington L, Blain AP, McFarland R, Gorman GS. l-Arginine in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes. Neurology 2022, 98(23), E2318-E2328.
  • Stefanetti RJ, Blain A, Jimenez-Moreno C, Errington L, Ng YS, McFarland R, Turnbull DM, Newman J, Gorman GS. Measuring the effects of exercise in neuromuscular disorders: A systematic review and meta-analyses [version 1; peer review: 2 approved]. Wellcome Open Research 2020, 5(84).
  • Stefanetti RJ, Voisin S, Russell A, Lamon S. Recent advances in understanding the role of FOXO3 [version 1; referees: 4 approved]. F1000Research 2018, 7, 1372.