bims-curels Biomed News
on Leigh syndrome
Issue of 2026–05–24
twelve papers selected by
Cure Mito Foundation
  1. Strengthening the evidence base for precision medicine through the utilization of real-world data and real-world evidence: a narrative review from the U.S. perspective.
  2. Collaboration as a Catalyst for Advancing Rare Disease Research: The Experience of the Rare Diseases Clinical Research Network.
  3. Patients offered genomic testing for rare disease and cancer: a real-world evaluation of impact and processes of care.
  4. Paying for precision: funding approaches for N-of-1 trials of individualized gene targeted therapies.
  5. Mavodelpar in patients with primary mitochondrial myopathy: a phase 1 trial.
  6. The progress of mitochondrial function and transfer in stem cell regulation and therapy.
  7. Harnessing Patient-Generated Data for Rare Disease Knowledge Enrichment: A Pilot Study.
  8. Artificial Intelligence in Medicine: Barriers, Solutions, and Strategies.
  9. Review article: Improving Mitochondrial Function: Current Therapeutic Perspectives in Neurodegenerative Diseases.
  10. "You can only change what you can change": a qualitative study of new-graduate physiotherapists' experiences navigating the care of patients influenced by health misinformation.
  11. Conversational Artificial Intelligence in Medical Education: A Scoping Review.
  12. Navigating uncertainty and resilience: a framework for understanding caregivers' experiences and support needs.
  1. Per Med. 2026 May 23. 1-13
    Strengthening the evidence base for precision medicine through the utilization of real-world data and real-world evidence: a narrative review from the U.S. perspective.
    Emily Nagel, Youssef M Roman.
      The expansion of precision medicine has shifted toward individualized care tailored to a patient's genetic profile. While randomized controlled trials (RCTs) remain the gold standard for establishing efficacy, they often struggle to reflect the phenotypic diversity of patients in routine clinical practice. This paper explores the role of Real-World Data (RWD) and Real-World Evidence (RWE) in bridging this translational gap. A structured literature search identified peer-reviewed articles examining RWE applications in identifying rare genetic targets, informing clinical trial design, and supporting U.S. Food and Drug Administration (FDA) regulatory decisions. This review synthesizes recent regulatory advances through early 2026, including frameworks supporting the use of aggregated RWD that expand large-scale, multi-institutional evidence generation. RWE provides a scalable mechanism for identifying rare genetic variants and validating biomarker-driven therapies across heterogeneous patient populations while enabling longitudinal assessment of natural disease history and treatment safety. Operational successes in oncology, transplant medicine, and rare diseases demonstrate regulatory acceptance of RWE alongside critical challenges in data standardization, interoperability, and bias mitigation through causal inference frameworks, including target trial emulation. RWD and RWE serve as necessary complements to RCTs, providing the hybrid evidentiary framework needed to realize precision medicine's potential.
    Keywords:  Biomarkers; clinical trial design; genomics; rare genetic variants; real-world data; real-world evidence; regulatory affairs; targeted therapy
    DOI:  https://doi.org/10.1080/17410541.2026.2678223
  2. Clin Transl Sci. 2026 Jun;19(6): e70585
    Collaboration as a Catalyst for Advancing Rare Disease Research: The Experience of the Rare Diseases Clinical Research Network.
    Mirna Chehade, Sheridan Meyers, Talaya McCright-Gill, Rogerwene Gifford, Mustafa Sahin, Michael E Shy, Michele Manion, Dakota Campbell, Marc E Rothenberg, Maurizio Macaluso.
      The Rare Diseases Clinical Research Network (RDCRN) was established to improve diagnosis, treatment, and research collaboration across rare diseases through collaborative, multi-site, translational, and clinical research. Its governance framework promotes efficient data sharing and collaboration among research consortia, NIH representatives, and patient advocacy groups (PAGs). This infrastructure facilitates coordinated efforts to advance rare disease research through shared resources and communication. Prompted by the COVID-19 pandemic's impact on rare disease patients, the RDCRN recognized cross-consortia collaboration as a priority. Its policies promote data sharing while protecting participant confidentiality. PAGs participate in governance, study design, and regulatory discussions, helping to identify patient-relevant priorities, improve recruitment and retention, and strengthen trust between researchers and patients. Cross-consortia efforts have addressed challenges like biomarker identification and harmonization of clinical measures, leading to new methods and standardized data collection that benefit multiple rare diseases. Studies by teams focusing on different diseases have led to improved diagnostic tools by addressing overlapping disease presentations. The RDCRN offers scholars cross-consortia opportunities for presentations, competitions, and NIH training collaborations, fostering growth and networking. Network meetings promote exchange and process standardization; pilot projects facilitate independent grant submissions, forming a pipeline of skilled investigators. The RDCRN fosters trust, shared vision, and open communication by cultivating a culture of mutual respect, shared learning, and collective problem solving. By engaging a wide range of stakeholders, it has aligned its research with patient needs, advancing innovation. Its high-impact publications, effective mentoring programs, and pioneering cross-consortia initiatives underscore the value of collaboration in rare disease research.
    Keywords:  collaboration; committee; consortium; network; rare disease
    DOI:  https://doi.org/10.1111/cts.70585
  3. Eur J Hum Genet. 2026 May 19.
    Patients offered genomic testing for rare disease and cancer: a real-world evaluation of impact and processes of care.
    Melissa Martyn, Ling Lee, Emily Forbes, Anaita Kanga-Parabia, Callum McEwan, Rigan Tytherleigh, Alli Jan, Ella Lynch, Ivan Macciocca, Clara Gaff.
      Robust evidence is required to support decision-making about incorporating genomics into healthcare; patient perspectives are crucial. Prior studies centre on people giving research consent for testing, yet significant differences between research and clinical cohorts are well established. We investigated 1690 patients offered genomic testing during clinical care by a range of medical specialists, for rare diseases and cancer. Ninety per cent (1515) accepted testing. Of 74 decliners providing their reasons, 20 gave genomic-specific concerns. Impact and experiences of care were captured using surveys after consent (S1:RR 73%) and return of results (S2:RR 53%). We actively included those often missing from research, e.g. 8% of S2 respondents accepted telephone assistance - typically with interpreters - to complete surveys. Those who spoke English as an additional language were less likely to have received enough information at pre-test counselling (88% v 96%) and less likely to correctly answer questions about potential genomic test results. After receiving results, 10% (52/534) of respondents had moderate-high decision regret; predictors included English as an additional language and not receiving enough information at consent. Value from testing was quantified and compared: those with informative results valued their medical and personal utility; those with uninformative results derived social utility. Perceived personal control increased post-result for those with diagnostic results and decreased for those with uninformative results. Our results expand the evidence base available for genomic health technology assessment. On balance, genomic test results provide more value than harm, but equity issues need to be addressed to ensure all patients can benefit.
    DOI:  https://doi.org/10.1038/s41431-026-02138-2
  4. Orphanet J Rare Dis. 2026 May 21.
    Paying for precision: funding approaches for N-of-1 trials of individualized gene targeted therapies.
    Nicole Nolen, Annemieke Aartsma-Rus, Christine Caneva, Curtis R Coughlin Ii, Margot A Cousin, Catherine Douthwright, Holm Graessner, Olivia Kim-McManus, Ashley Kuniholm, Stefanie Leonard, Andrea Martinsen, Margaret Meserve, Matthis Synofzik, Booma Yandava, Timothy W Yu, Scott Demarest, Roger J Paxton.
      Individualized medicine has the potential to be a transformative approach to healthcare that tailors medical treatments to the unique makeup of each patient. This report explores the potential of individualized genetic medicines to meet the pressing need for effective treatments for individuals with rare genetic diseases, and funding models to support these treatments. Although recent successes have been achieved, significant administrative and financial challenges remain in implementing individualized treatment trials. This report investigates funding associated with such therapeutics. Funding challenges, key strategic operational factors, potential payor support, historic funding models, and ethical elements ultimately leading to financial support of patient treatment are considered. By addressing these questions, this report aims to provide an overview of the complex issues surrounding individualized medicine, offering insights into balancing its promises with practical and ethical considerations as the field and associated funding models continue to evolve.
    Keywords:  Finance; Funding; Individualized medicine; Personalized healthcare; Precision medicine; Rare disease; Ultra-rare disease
    DOI:  https://doi.org/10.1186/s13023-026-04388-1
  5. Sci Rep. 2026 May 18.
    Mavodelpar in patients with primary mitochondrial myopathy: a phase 1 trial.
    Renae J Stefanetti, Chiara Pizzamiglio, Alasdair P Blain, Oliver M Russell, Lisa Alcock, Gavin Hudson, Jane Newman, Naomi Thomas, Charlotte Warren, Huizhong Su, Helen A L Tuppen, Philip Brown, David Houghton, Heather Hunter, Albert Z Lim, Yi Shiau Ng, Catherine Feeney, Iwona Skorupinska, Louise Germain, Enrico Bugiardini, Michael G Hanna, Robert McFarland, Robert D S Pitceathly, Gráinne S Gorman.
      Primary mitochondrial myopathies (PMM) are rare, genetically-defined disorders characterised by defects of oxidative phosphorylation, predominantly affecting skeletal muscle. This Phase 1b open-label trial evaluated mavodelpar, a selective peroxisome proliferator-activated receptor delta (PPARδ) agonist, over 12 weeks (Part A), with an optional 36 week extension (Part B) in adults with PMM. The primary objective was to assess safety and tolerability, with secondary assessments of pharmacokinetics, pharmacodynamics, and exploratory performance, patient-reported, and muscle biopsy outcomes. Of the 23 participants who received mavodelpar, 17 completed Part A; none completed Part B due to premature study termination during the COVID-19 pandemic. Adverse events were mild-moderate severity, with headache and constipation most common (4/23 participants; 17.4% each). Exploratory measures showed a mean increase of 104 m in the twelve minute walk test (95% CI: 53 to 156) and a mean reduction of -10.5 points in patient-reported fatigue (95% CI: -16.3 to -4.6). No consistent changes in mitochondrial function were detected in muscle biopsies (n = 10), while transcriptomic profiling (n = 6) revealed modest upregulation of fatty acid-metabolism pathways. Although findings from this Phase 1b trial supported progression to later-phase evaluation, the subsequent Phase 2b trial did not demonstrate clinical efficacy for mavodelpar. The results reported here should be interpreted as exploratory and not indicative of therapeutic benefit. Nevertheless, this Phase 1b trial provides important methodological insights to inform future PMM clinical trial design and outcome measure development.
    Keywords:  Mitochondrial disease; Mitochondrial myopathy; Outcome measures; Peroxisome proliferator-activated receptor delta (PPARδ) agonist; Phase 1 trial; Rare disease
    DOI:  https://doi.org/10.1038/s41598-026-43287-0
  6. J Physiol Biochem. 2026 May 21. pii: 53. [Epub ahead of print]82(1):
    The progress of mitochondrial function and transfer in stem cell regulation and therapy.
    Yubing Zhang, Zhuojian Qu, Zhiliang Guo, Lijuan Zhang, Hong Li, Xiaoyun Zhang, Xiumei Guan, Xiaodong Cui, Wenxu Wang, Min Cheng.
      Mitochondria, serving as central organelles for energy metabolism, play a critical regulatory role in stem cell self-renewal and differentiation-a function increasingly supported by accumulating evidence and closely linked to various aging-related diseases. Central to their function in stem cell pluripotency are several key mechanisms, such as the control of reactive oxygen species, mitophagy, and mitochondrial-endoplasmic reticulum communication. Mitochondrial transfer, as an emerging intercellular communication mechanism, can enhance stem cell pluripotency and function by replacing damaged mitochondria or activating mitophagy in recipient cells. However, different transfer mechanisms can induce distinct effects on recipient cells. The development of artificial mitochondrial transfer technology, compared to traditional cell transplantation, reduces immune rejection and offers new strategies for stem cell therapy. This review examines the interplay between mitochondrial function and stem cell fate determination, discusses the therapeutic potential of mitochondrial transfer in stem cell-based regenerative strategies, and establishes a theoretical framework for understanding and treating mitochondrial dysfunctions and aging-associated pathologies.
    Keywords:  Mitochondrial function; Mitochondrial transfer; Mitophagy; Reactive oxygen species; Stem cell regulation
    DOI:  https://doi.org/10.1007/s13105-026-01192-0
  7. Stud Health Technol Inform. 2026 May 21. 336 2415-2419
    Harnessing Patient-Generated Data for Rare Disease Knowledge Enrichment: A Pilot Study.
    Selina Wai Yan Hui, Fangyi Chen, Kai Wang, Chunhua Weng.
      Patients with rare diseases often endure a 4-5-year diagnostic odyssey. Patient-generated data on social media remains an untapped resource for understanding rare diseases. This study characterizes patient descriptions of rare disease from social media and systematically compares patient-reported symptoms to literature-documented ones. 166 unique rare diseases were identified from 229 patient posts. A hybrid human-AI framework using GPT-4 with full manual verification was used to extract and standardize patient-reported symptoms, which were then compared against symptoms documented in PubMed. The most frequent patient-reported symptoms were motor impairment, ataxia, pain, and fatigue. A low average overlap was observed between patient-reported symptoms and clinical literature. Patient narratives emphasized quality-of-life impacts (e.g., fatigue, anxiety), whereas clinical literature focused on diagnostic markers (e.g., dysarthria, dysphagia). Patient-generated data reveals underreported symptoms that are particularly meaningful to patients and complement clinical findings. Harnessing these real-world insights holds immense potential to shorten the diagnostic odyssey, inform patient-centered care, and guide future research priorities for rare diseases.
    Keywords:  Large Language Models; Patient-Generated Health Data; Rare Diseases
    DOI:  https://doi.org/10.3233/SHTI260703
  8. HCA Healthc J Med. 2026 ;7(2): 247-254
    Artificial Intelligence in Medicine: Barriers, Solutions, and Strategies.
    Anil Harrison, Melissa Stradley Moreno, Caroline E Williams, Munevver Mine Subasi, Ersoy Subasi.
      Description The integration of artificial intelligence (AI) and machine learning (ML) into health care holds the potential to revolutionize patient care by enhancing clinical decision-making, improving diagnostic accuracy, and reducing costs. Despite this promise, adoption remains limited due to a range of technical, regulatory, educational, and cultural barriers. This paper examines these challenges and proposes strategies to support safe and effective implementation of AI in clinical practice. Key barriers include the lack of model interpretability, often referred to as the "black box" problem, which undermines clinician trust and accountability in clinical settings, evolving regulatory frameworks and unresolved questions surrounding liability, and persistent concerns regarding data quality, access, and privacy. In addition, bias in AI models remains a critical issue with implications for health equity. Beyond these established challenges, emerging barriers include a disconnect between academically developed models and real-world clinical development, as well as the need for substantial transformation in medical education to address AI assisted clinical workflows. The increasing use of AI in core clinical tasks, such as documentation and diagnostic support, also raises concerns regarding the potential erosion of fundamental clinical skills. Without deliberate training strategies, reliance on AI may compromise the development and maintenance of independent clinical reasoning. To address these challenges, this paper emphasizes the importance of interdisciplinary collaboration, transparent and interpretable model development, modernization of medical education, and the establishment of adaptive regulatory and ethical frameworks. Ultimately, the successful integration of AI in health care will depend on aligning technological innovation with clinical trust, education, and patient centered care.
    Keywords:  algorithms; artificial intelligence; clinical competence; digital health; machine learning; medical education; medicine
    DOI:  https://doi.org/10.36518/2689-0216.2311
  9. Pharmacol Res. 2026 May 18. pii: S1043-6618(26)00142-8. [Epub ahead of print] 108227
    Review article: Improving Mitochondrial Function: Current Therapeutic Perspectives in Neurodegenerative Diseases.
    Julia Brechtel, Christine Lietz, Selin Akpinar Adscheid, Kristina Friedland.
      Mitochondrial dysfunction is considered one of the key drivers of neurodegeneration and pathological aging, characterized by impaired energy production, oxidative stress, disrupted mitophagy, and biogenesis. Because mitochondria regulate bioenergetics, redox balance, and neuronal survival, therapeutic strategies that restore mitochondrial integrity are of growing interest. This review outlines mechanisms of mitochondrial function and failure, links them to Alzheimer's and Parkinson's disease, and summarizes evidence on phytochemicals and mitochondria-targeted small molecules, which enhance biogenesis, mitophagy, respiratory efficiency, and antioxidant defence in preclinical models together with life-style interventions. Although many compounds demonstrate preventive rather than restorative benefit and clinical evidence remains limited, next-generation approaches, including nanoparticles for mitochondrial delivery, mtDNA editing, and mitochondrial transfer, suggest increasing therapeutic potential. We underline that future success will rely on improved delivery, synergistic combinations, and rigorous clinical trials. Mitochondria-directed therapies may ultimately provide disease-modifying or preventive strategies for neurodegenerative disorders.
    Keywords:  Alzheimer’s Disease; Mitochondria-Targeted Therapies; Mitochondrial Dynamics; Mitochondrial Dysfunction; Parkinson’s Disease; Phytochemicals; Small Molecule
    DOI:  https://doi.org/10.1016/j.phrs.2026.108227
  10. Physiother Theory Pract. 2026 May 22. 1-13
    "You can only change what you can change": a qualitative study of new-graduate physiotherapists' experiences navigating the care of patients influenced by health misinformation.
    Alice Schumacher, Allison Mandrusiak, Elaine McGivern, Xiaowen Zhuo, Roma Forbes.
       BACKGROUND: Health misinformation is prevalent in healthcare, posing unique challenges for physiotherapists. Current literature highlights healthcare professionals' concerns toward the impact of health misinformation on patient care, yet the perceptions of new-graduate physiotherapists in this area remain unknown.
    PURPOSE: To understand Australian new-graduate physiotherapists' experiences navigating the care of patients influenced by health misinformation in clinical practice and their perspectives on training and support needs.
    METHOD: A qualitative general inductive approach was undertaken. Sixteen new-graduate physiotherapists participated in semi-structured interviews. Interview data were subject to reflexive thematic analysis.
    RESULTS: Four themes were generated: 1) Misinformation is ubiquitous and entrenched; 2) Balancing professional responsibility with patient autonomy; 3) Knowing versus implementing a biopsychosocial approach; and 4) The help or hindrance of the healthcare system.
    CONCLUSION: New-graduate physiotherapists encounter patients influenced by health misinformation and recognize its impact on physiotherapy and healthcare more broadly. Patient education emerged as a key strategy to mitigate misinformed beliefs, requiring clinical knowledge and development of therapeutic relationships. New-graduates report challenges navigating these biopsychosocial interactions and emphasize the value of pre-clinical and workplace training. Findings highlight the importance of multi-disciplinary collaboration for a coordinated response to misinformation in healthcare.
    Keywords:  New-graduate; misinformation; physiotherapy; training
    DOI:  https://doi.org/10.1080/09593985.2026.2676998
  11. Cureus. 2026 Apr;18(4): e107391
    Conversational Artificial Intelligence in Medical Education: A Scoping Review.
    Tasniya Aktar, Robert J Farquhar, Chris Jacobs.
      Conversational artificial intelligence (AI), encompassing chatbots and large language models (LLMs), is rapidly emerging in the sphere of medical education as a dynamic tool for interactive learning. By generating realistic dialogue, simulating patient encounters, and providing adaptive feedback, these systems create new possibilities for learners to practise communication, clinical reasoning, and decision-making in a flexible and accessible way. Yet, despite increasing enthusiasm, evidence regarding their educational value remains fragmented. This scoping review examines the existing literature on conversational AI in undergraduate medical education, focusing on three key domains: educational utility, technology usability, and fidelity. A comprehensive search was conducted across PubMed, Scopus, and Web of Science in August 2025. After deduplication, 496 unique studies were screened, and 20 met the inclusion criteria. These studies employed diverse methodologies and evaluation approaches. Methodological rigour was assessed using a validated framework designed for medical education research.  Across the literature, conversational AI demonstrates considerable potential to enhance engagement, support self-directed learning, and expand access to experiential practice. Learners generally view these systems as intuitive and motivating, and many studies suggest benefits for clinical reasoning and communication training. However, limitations in reliability, realism, and technical accuracy persist, and outcome measures remain inconsistent. Few studies assess the impact of response latency or the long-term transfer of skills to clinical settings, and methodological rigour is often modest. Overall, conversational AI appears to be a promising adjunct to traditional medical teaching rather than a replacement. Its value lies in scalability, interactivity, and adaptability, but effective integration requires thoughtful design, validated evaluation frameworks, and ongoing human oversight. As technology advances, further research should focus on standardising assessment methods, exploring learning outcomes beyond user satisfaction, and addressing fidelity and responsiveness to ensure meaningful, safe, and sustainable implementation within modern medical curricula.
    Keywords:  artificial intelligence in medicine; chatbots; conversational artificial intelligence; medical education curriculum; medical education technology
    DOI:  https://doi.org/10.7759/cureus.107391
  12. Disabil Rehabil. 2026 May 20. 1-16
    Navigating uncertainty and resilience: a framework for understanding caregivers' experiences and support needs.
    Cecilia Berntsson, Julia Milner, Yasmin D Hailer.
       PURPOSE: The number of children with chronic conditions is increasing, affecting a growing number of caregivers. Informal caregiving adversely impacts health, social contacts, and the economy, highlighting the importance of improved caregiver well-being.
    MATERIALS AND METHODS: Semi-structured interviews were conducted with caregivers identified through a patient database at a Swedish hospital. Using a phenomenological approach with a thematic analysis, we explored the experiences of caregivers of children with the example of the condition Legg-Calvé-Perthes disease.
    RESULTS: The caregivers were highly worried and feared the unknown. Every uncertainty was experienced as consuming. By gathering information, they tried to regain control. Lacking information and communication from health care professionals created frustration. Half of the caregivers described that it negatively affected their mental health. Counselors and physiotherapists became crucial by taking on a coordinative and holistic role. Despite hardships, most caregivers found meaning in life and adapted to the new reality. The disease often had no negative effects on career or finances, and sometimes improved family relationships.
    CONCLUSION: Numerous parallels with our findings are evident across a broader caregiver population, indicating similar support requirements regardless of disease. Our 'Care for Caregivers Framework' illustrates caregivers' experiences and highlights possible areas for future research.
    Keywords:  Care for caregivers framework; Legg-Calvé-Perthes disease; Sweden; caregivers’ health; chronic disease; mental well-being; qualitative phenomenological research
    DOI:  https://doi.org/10.1080/09638288.2026.2672861
This page is being maintained by Thomas Krichel. It was last updated on 2026‒05‒24 at 16:08.