bims-curels Biomed News
on Leigh syndrome
Issue of 2026–03–29
fourteen papers selected by
Cure Mito Foundation



  1. Int J Mol Sci. 2026 Mar 23. pii: 2890. [Epub ahead of print]27(6):
      Mitochondria play a fundamental role in human reproduction by supplying the energy required for key early reproductive processes. As mitochondrial Deoxyribonucleic acid (mtDNA) is maternally inherited, pathogenic mutations can lead to multisystem disorders that are transmitted to offspring. Mitochondrial replacement therapy (MRT) has emerged as a promising assisted reproductive approach to prevent the transmission of pathogenic mtDNA by replacing defective mitochondria with healthy donor mitochondria. There have been recent reports of successful MRT in humans. However, MRT remains a relatively new procedure and needs further experiments to establish its long-term safety and effectiveness. Overall, mitochondrial replacement therapy holds significant promise in helping families build healthier futures. This review explores the evolution of mitochondrial DNA modification in reproductive cells and addresses the associated ethical considerations, including acceptable clinical indications, reproductive choices, and long-term considerations for affected children.
    Keywords:  DNA modification; assisted reproductive technique; mitochondria; mitochondrial diseases; mitochondrial replacement therapy
    DOI:  https://doi.org/10.3390/ijms27062890
  2. Pharmaceutics. 2026 Mar 13. pii: 356. [Epub ahead of print]18(3):
      Cell and Gene Therapy (CGT) represents a paradigm shift in medicine, offering curative potential for previously intractable diseases. However, the complexity, high cost, and manufacturing challenges inherent in developing, producing, and administering these therapies hinder their widespread accessibility. This review examines the critical and increasingly synergistic role of Artificial Intelligence (AI) and Machine Learning (ML) in overcoming these barriers across the entire CGT lifecycle, from discovery and construct design to smart manufacturing, clinical translation, and regulatory applications. We analyze how AI-driven approaches fundamentally differ from conventional methods, facilitating rapid construct optimization, generating highly predictive translational models, enabling the vision of autonomous, digital-twin-driven manufacturing, and establishing new paradigms for pharmacovigilance and regulatory oversight. The integration of AI is not merely an incremental improvement but a foundational transformation, positioning CGT to move from niche, bespoke treatments to scalable, accessible, and highly personalized medical modalities. We conclude by discussing current gaps, particularly data scarcity and regulatory uncertainty, and outlining a roadmap to realize the full potential of AI-enabled CGT.
    Keywords:  CGT development; CGT manufacturing; artificial intelligence; cell and gene therapy; machine learning
    DOI:  https://doi.org/10.3390/pharmaceutics18030356
  3. J Mark Access Health Policy. 2026 Mar 06. pii: 14. [Epub ahead of print]14(1):
      Population-adjusted indirect comparisons (PAICs), including Matching-Adjusted Indirect Comparison and Simulated Treatment Comparison, are increasingly used to inform health technology assessments. These methods offer a pragmatic approach to generating comparative evidence between treatments when head-to-head trial data are unavailable and standard indirect treatment comparison methods are unfeasible. In rare diseases, however, PAICs often face substantial methodological challenges arising from small sample sizes, limited covariate overlap, and the frequent use of unanchored comparisons that rely on unverifiable assumptions. These limitations can lead to unstable estimates, reduced precision, and bias that may undermine the reliability of findings. Methodological refinements-such as optimized weighting, Bayesian approaches, and doubly robust estimators-provide some improvements but do not resolve these fundamental issues. Current European Joint Clinical Assessment guidance recommends that anchored PAICs be applied with great caution, while unanchored PAICs are considered highly problematic, and other methods should be used instead. We argue that PAICs can play a supportive role within a multidimensional and deliberative HTA process, contributing to comparative assessment alongside other evidence sources when available data are limited. However, their results require careful interpretation and transparent communication of uncertainty. Future research should prioritize the further development of formal frameworks to quantify bias and systematically assess robustness, thereby preventing overstatement of the credibility of PAIC-derived evidence in rare disease contexts.
    Keywords:  matching-adjusted indirect comparison; rare diseases; simulated treatment comparison
    DOI:  https://doi.org/10.3390/jmahp14010014
  4. PLOS Digit Health. 2026 Mar;5(3): e0001267
      The identification of phenotypes within complex diseases is a fundamental component of personalized medicine, which aims to adapt healthcare to individual patient characteristics. Postoperative delirium (POD) is a complex neuropsychiatric condition with significant heterogeneity in its clinical manifestations and underlying pathophysiology. We hypothesize that POD comprises several distinct phenotypes, which cannot be directly observed in clinical practice. Identifying these phenotypes could enhance our understanding of POD pathogenesis and facilitate the development of targeted prevention and treatment strategies. In this paper, we propose an approach that combines supervised machine learning for personalized POD risk prediction with unsupervised clustering technique to uncover potential POD phenotypes. We first demonstrate our approach using synthetic data, where we simulate patient cohorts with predefined phenotypes based on distinct sets of informative features. We aim to mimic any clinical disease with our synthetic data generation method. By training a predictive model and computing SHapley Additive exPlanations (SHAP), we show that clustering patients in the SHAP feature scoring space successfully recovers the true underlying phenotypes, outperforming clustering in the raw feature space. We then present a case study using real-world data from a cohort of elderly POD patients. We train machine learning models on heterogeneous electronic health record data covering the preoperative, intraoperative and postoperative stages to predict personalized POD risk. Subsequent clustering of patients based on their SHAP feature scores reveals distinct subgroups with differing clinical characteristics and risk profiles, potentially representing POD phenotypes. These results showcase the utility of our approach in uncovering clinically relevant subtypes of complex disorders like POD, paving the way for more precise and personalized treatment strategies.
    DOI:  https://doi.org/10.1371/journal.pdig.0001267
  5. Cells. 2026 Mar 12. pii: 504. [Epub ahead of print]15(6):
      A rare disease is a condition that affects only a small portion of the population [...].
    DOI:  https://doi.org/10.3390/cells15060504
  6. J Mark Access Health Policy. 2026 Mar 09. pii: 15. [Epub ahead of print]14(1):
      Unmet need is a core component of many Health Technology Assessment (HTA) processes at EU and national level. Most visibly, it is a core selection criterion for Joint Scientific Consultations (JSC) and Joint Clinical Assessment (JCA) for medical devices. This qualitative study explored how Unmet Medical Needs (UMNs) are understood and applied in drug development, with an emphasis on the European regulatory, HTA and access context, and examined their impact on regulatory and clinical development strategies. Twenty semi-structured interviews were conducted with representatives from regulatory authorities, HTA bodies, clinical development, industry, and patient insight roles. Data was analyzed using a thematic content approach combining deductive and inductive coding. Thematic analysis revealed general agreement on the importance of addressing UMNs, but also substantial variation in how they are defined and prioritized. Regulators often stressed disease severity and clinical evidence, while patients and clinicians emphasized quality of life. HTA representatives highlighted comparative benefit and long-term outcomes. These differing perspectives shaped how UMNs were integrated into development strategies, trial design, and regulatory planning. The findings indicate that clearer yet adaptable criteria could support earlier and more consistent alignment. Based on the analysis, a five-part roadmap to guide drug development is proposed, focusing on internal coordination, structured stakeholder engagement, collaboration between regulators and HTA bodies, adaptable definitions, and transparent decision-making. Together, these elements aim to support more systematic and predictable approaches to identifying and addressing unmet needs in drug development.
    Keywords:  drug development; health technology assessment; patient engagement; qualitative research; regulatory science; unmet medical need
    DOI:  https://doi.org/10.3390/jmahp14010015
  7. Acad Pediatr. 2026 Mar 22. pii: S1876-2859(26)00084-7. [Epub ahead of print] 103302
       BACKGROUND AND OBJECTIVES: The 21st Century Cures Act mandates real-time patient access to clinical notes, introducing challenges in medical education, particularly in inpatient pediatrics where issues of confidentiality, proxy access, and sensitive topics are common. Despite this shift in practice, medical students receive little formal preparation in writing notes that patients and caregivers can read, known as Open Notes. The objective of this study was to conduct a stakeholder-informed needs assessment to inform curricula for medical student documentation in inpatient pediatrics in the Open Notes era.
    METHODS: We conducted a multi-site qualitative study using focus groups with key stakeholders involved in medical student documentation and supervision; third- and fourth-year medical students, Pediatrics residents, and pediatric hospital medicine fellows and faculty, across four U.S. academic institutions. Transcripts were analyzed using inductive thematic analysis by a research team representing multiple levels of medical training.
    RESULTS: Seventy-six participants across twelve focus groups identified four core content domains for Open Notes curricula: (1) adapting documentation for diverse audiences; (2) using respectful, patient-centered language; (3) documenting diagnostic uncertainty and differing perspectives among stakeholders; and (4) managing confidentiality and proxy access. Participants supported a longitudinal curriculum beginning prior to clerkships that is reinforced throughout clinical training, with low-stakes practice opportunities, structured feedback, institutional guidance, and use of electronic health record tools to support learning.
    CONCLUSIONS: Medical students require intentional training to document effectively in the Open Notes era. This study provides a stakeholder-informed framework to guide development of undergraduate medical education curricula for inpatient pediatrics documentation.
    Keywords:  Curriculum; Education; Inpatient Pediatrics; Medical; Patient Access to Records; Qualitative Research; Undergraduate
    DOI:  https://doi.org/10.1016/j.acap.2026.103302
  8. Handb Clin Neurol. 2026 ;pii: B978-0-443-15736-3.00017-2. [Epub ahead of print]216 201-212
      The brainstem, despite its modest size relative to the cerebral cortex, is critically involved in the pathology and clinical manifestations of numerous neurodegenerative diseases (NDDs). Historically, research on NDDs such as Alzheimer disease, Lewy body disease, and frontotemporal lobar degeneration predominantly adopted a cortico-centric perspective. However, emerging neuropathologic evidence underscores the brainstem's essential role, with early pathologic changes often predating cortical involvement. This chapter highlights salient points regarding the pathology and clinicopathologic correlations of brainstem involvement across major NDDs, emphasizing the chronology of disease progression. Key mechanisms, including protein misfolding and aggregation, selective neuronal vulnerability, and neurotransmitter dysfunction, are explored. Clinical correlations illustrate how early brainstem pathology significantly contributes to prodromal symptoms and helps define distinct clinical phenotypes, such as autonomic dysfunction, sleep disturbances, and mood disorders. Recognizing the chronologic order and specific nuclei affected in the brainstem broadens our understanding of disease progression, highlighting opportunities for targeted interventions at earlier disease stages.
    Keywords:  Brainstem; Clinicopathologic correlations; Neurodegenerative diseases; Neuropathology; Protein aggregation
    DOI:  https://doi.org/10.1016/B978-0-443-15736-3.00017-2
  9. Clin Ther. 2026 Mar 23. pii: S0149-2918(26)00048-2. [Epub ahead of print]
      
    Keywords:  Best pharmaceuticals for children act; Copper histidinate; Menkes disease; Orphan drug act; Pharmaceutical research equity act; Rare childhood diseases
    DOI:  https://doi.org/10.1016/j.clinthera.2026.02.014
  10. Rev Recent Clin Trials. 2026 Mar 23.
      Virtual clinical trials (VCTs) represent an innovative approach to clinical research, using computer simulations and digital modeling rather than traditional human participants. These trials harness computational power and artificial intelligence to model the effects of medical treatments, drastically reducing costs, time, and logistical complexities. As this technology advances, VCTs offer the potential to streamline drug development, enhance precision, and make clinical research more accessible and efficient. However, the shift away from traditional human-based trials raises significant ethical concerns, particularly regarding the validity of results, regulatory oversight, and the potential reduction of human involvement in the research process. This paper explores the economic, ethical, and practical aspects of VCTs in clinical medicine, with a focus on their potential to revolutionize clinical trials and the challenges they present. Future lines of research will also be proposed to address these issues.
    Keywords:  Clinical trials; artificial intelligence; computer simulation; drug development; ethical considerations; regulatory challenges.
    DOI:  https://doi.org/10.2174/0115748871436258260114105507
  11. Ther Adv Rare Dis. 2026 Jan-Dec;7:7 26330040261427023
      The International Rare Diseases Research Consortium (IRDiRC) Telehealth (TH) Task Force explored the use of TH for improving diagnosis, care, research, and education for rare diseases (RDs) worldwide. The Task Force members interviewed 23 key opinion leaders (KOLs), providing perspectives from experts in the use of TH for the diagnosis, treatment, and prevention of RDs (10 KOLs); for research and evaluation in RDs (7); and for the continuing education of health care providers (HCPs) in RDs (6). The KOLs represented a broad array of diverse perspectives with regard to both geographic regions, including Europe, United States, Sub-Saharan Africa, and Asia, and professional expertise, including rare disease patients and family members, RD association spokespersons, TH association representatives, physicians, researchers, and regulatory authorities. The Task Force solicited KOL opinions to identify factors that influence TH in improving access to diagnosis, care, prevention, and research experiences for RD patients and providers as well as continuing education and peer mentoring for HCPs. This manuscript represents a synthesis of those interviews and some common themes that emerged, along with identification of evidence and knowledge gaps that will benefit from future research efforts to help advance and expand the use of TH for RD care, research, and education. KOLs agreed on the unique elements of RD medical care that could benefit from TH approaches and recognized the increasing role that remote assessments can play in supporting RD research. They identified models for health care provider education afforded by TH that can enhance care for RD patients and broaden the pool of experts in these conditions. While recognizing that barriers to broad implementation exist, they agreed that TH provides a unique tool to provide greater access to care for RD patients worldwide.
    Keywords:  IRDiRC; decentralized clinical trial; eHealth; key opinion leader; peer mentoring; rare disease; rare disease care; rare disease education; rare disease research; teleconsultation; telehealth; telemedicine
    DOI:  https://doi.org/10.1177/26330040261427023
  12. Front Pharmacol. 2026 ;17 1786017
      The integration of clinical and real-world evidence represents one of the most critical transformations in modern drug development and health technology assessment (HTA). Despite increasing regulatory openness, however, clinical trial evidence and real-world data (RWD) still operate largely as parallel rather than fully complementary systems. This commentary argues that experimental and observational research are not competing paradigms but two interdependent components of a unified evidence ecosystem, each capturing distinct yet equally essential dimensions of patient reality. Randomized controlled trials (RCTs) typically enrol highly selected populations and are optimised for internal validity, whereas RWD reflect the heterogeneity, comorbidities, and lived experiences of patients in routine clinical practice. Integrating these two evidence streams is therefore fundamental for personalised medicine, where the objective is to generate evidence that is both scientifically rigorous and meaningfully reflective of individual patient needs. This narrative Policy & Practice Commentary synthesises regulatory guidance, methodological literature, and applied case examples to examine how leading regulatorsand HTA agencies, including the U.S. Food and Drug Administration (FDA), European Medicines Agency (EMA), Medicines and Healthcare products Regulatory Agency (MHRA), Pharmaceuticals and Medical Devices Agency (PMDA), and National Institute for Health and Care Excellence (NICE), are developing frameworks to support the use of RWD and real-world evidence (RWE) in regulatory approval and reimbursement decision-making. Areas of convergence and divergence are explored, with particular emphasis on methodological transparency, data provenance, causal inference, and reproducibility as shared quality anchors across jurisdictions. Illustrative case examples from oncology and ophthalmology are used to demonstrate both the opportunities and challenges of hybrid evidence generation. In oncology, RWD are increasingly applied in external and hybrid control arms, pragmatic designs, and post-authorisation safety and effectiveness studies. In ophthalmology, advances in artificial intelligence-enabled image analytics and disease registries illustrate how routinely collected clinical data and patient-reported outcomes can be integrated to inform real-world value assessment. The commentary concludes by proposing actionable policy and practice recommendations to operationalise integrated evidence models, focusing on harmonised governance and methodological standards, transparent reporting and cross-sector collaboration, systematic incorporation of patient-generated data, and incentives for early and lifecycle-oriented RWD generation. By aligning regulatory policy, analytical methodology, and patient-centred design, integrated RWE frameworks can support decisions that are both scientifically robust and genuinely reflective of real-world patient experience.
    Keywords:  health technology assessment; oncology; ophthalmology; personalized medicine; policy integration; real-world evidence; regulatory science
    DOI:  https://doi.org/10.3389/fphar.2026.1786017