bims-curels Biomed News
on Leigh syndrome
Issue of 2026–06–07
seven papers selected by
Cure Mito Foundation



  1. Cell Metab. 2026 Jun 02. pii: S1550-4131(26)00152-X. [Epub ahead of print]38(6): 1079-1080
      After decades without approved pharmacotherapies, mitochondrial disease care is shifting. Two FDA approvals emerged in 1 year, elamipretide (Forzinity) for Barth syndrome and deoxynucleoside therapy (Kygevvi) for TK2 deficiency, with another under review. Zink et al.1 suggest sildenafil (Viagra) could treat Leigh syndrome, highlighting drug repurposing for severe pediatric mitochondrial disease.
    DOI:  https://doi.org/10.1016/j.cmet.2026.04.014
  2. Cell Rep Med. 2026 Jun 02. pii: S2666-3791(26)00258-2. [Epub ahead of print] 102841
      Primary mitochondrial diseases (PMDs) are among the most common inherited metabolic disorders, affecting approximately 1 in 4,300 individuals. They result from pathogenic variants in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) that disrupt oxidative phosphorylation and lead to multisystem disease. Although advances in genomic testing have significantly improved diagnostic rates in PMDs, effective disease-modifying therapies remain limited. Therapeutic development increasingly focuses on mtDNA-targeted approaches because mtDNA variants are a major cause of disease and may offer opportunities for targeted intervention. Current strategies include allotopic expression, mitochondria-targeted nucleases, and next-generation base editors, which reduce or correct pathogenic mtDNA variants. Other emerging approaches include pharmacological modulation of heteroplasmy, reproductive techniques such as mitochondrial donation, and therapeutic strategies based on mitochondrial transplantation. This review summarizes advances in gene editing, pharmacological approaches, and reproductive and mitochondrial transplantation strategies for mtDNA-related PMDs, highlighting progress toward more targeted interventions.
    Keywords:  gene therapy; mitochondrial DNA; mitochondrial replacement therapy; primary mitochondrial diseases
    DOI:  https://doi.org/10.1016/j.xcrm.2026.102841
  3. Mitochondrion. 2026 Jun 02. pii: S1567-7249(26)00065-6. [Epub ahead of print]91 102175
      Women carriers of a disease caused by changes in mitochondrial DNA (mtDNA) seeking to achieve motherhood, currently have three options: (i) prenatal testing, via CVS or amniocentesis for women aiming to conceive naturally and test the health of the fetus during development; (ii) preimplantation genetic testing (PGT), which allows for the selection of embryos without mtDNA mutations or with the lowest possible chance of pathogenic mtDNA presence, and (iii) egg donation. The United Kingdom and Australia have approved two methods for replacing mutant mtDNA: maternal spindle transfer (MST) and pronuclear transfer (PNT). In MST, the maternal nuclear DNA is transferred from the patient's oocyte into an enucleated donor oocyte from which the maternal spindle has been removed. The reconstituted egg would then be fertilized by the intended father's sperm and the newly formed embryo implanted in the intended mother. In PNT, first mother's eggs are fertilized using the intended father's sperm, then the pronuclei of the embryo are transferred to a recipient embryo, from which the pronuclei have been removed. This paper will illustrate the basis of mtDNA-related diseases and the approaches to minimize transmission to offspring. Then, it will focus on the main ethical and legal/regulatory complexities as to various types of nuclear transfer to prevent mtDNA diseases, the risks to the child and future generations, and the issues related to germline changing. Our conclusion is that the two main methods developed to replace pathogenic mtDNA variants are morally approvable because they afford the newborn child quality of life.
    Keywords:  Human reproduction; Legal and ethical implications; Mitochondrial disease; Regulatory frameworks; maternal spindle transfer (MST); pronuclear transfer (PNT)
    DOI:  https://doi.org/10.1016/j.mito.2026.102175
  4. BMJ Open. 2026 Jun 03. 16(6): e111771
       BACKGROUND: Patient engagement is the practice of "meaningful and active collaboration [of patient partners] in governance, priority setting, conducting research and knowledge translation." Patient engagement has been implemented in various settings including clinical, research, and quality improvement, with varying levels of patient contributions and decision-making responsibility. However, little is known about the experiences of patient partners who are in leadership roles in patient-led events. For Patients, By Patients (PxP) is an annual, virtual, patient-led conference that focuses on topics important to patient partners in research. Each year's PxP steering committee is comprised of those with patient experiences and consequently, offers an opportunity for our research team to explore patient leadership within a conference setting. Understanding more about the intricacies of patient-led events is necessary if we wish to support patient leadership as a valuable form of patient engagement.
    OBJECTIVES: The aim of this study was to explore (1) the benefits and challenges experienced by PxP steering committee members in a patient-led event and (2) how to better support patient leadership.
    DESIGN: We conducted a qualitative descriptive study of semi-structured virtual interviews with PxP conference steering committee members. Thematic analysis was used to identify core themes that were salient to the data.
    SETTING: The Canadian Institutes of Health Research-Institute of Musculoskeletal Health and Arthritis in Vancouver, Canada, and an international virtual setting via Zoom from January 2025 to April 2025.
    PARTICIPANTS: Purposive sampling was used to conduct interviews with thirteen PxP patient partner steering committee members.
    RESULTS: Four core themes were identified in the data: (1) institutional support: how institutions can support patient leadership, (2) steering committee environmental characteristics: what characteristics are conducive to patient leadership, (3) personal growth: how patient leadership promotes growth among patient partners and (4) new possibilities: how patient-led events foster future expansion and opportunities. Power dynamics, intersectionality, and accessibility were also identified as central to supporting patient leadership and building safe and supportive environments.
    CONCLUSIONS: Patient partners are capable of leading events which promote interpersonal relationships and advance patient engagement practices and governance. Important facilitators include institutional support and governance that considers power dynamics, accessibility and intersectionality.
    Keywords:  Patient Participation; Patients; QUALITATIVE RESEARCH
    DOI:  https://doi.org/10.1136/bmjopen-2025-111771
  5. J Genet Couns. 2026 Jun;35(3): e70232
      The duration of genetic counseling (GC) sessions can vary significantly. However, which factors contribute to sessions being abbreviated or extended and how that affects quality of care has not been well studied. This study explored variability in long versus short GC patient care time, defined as time spent in the session with the patient, across various specialties and settings. Sessions from the Genetic Counseling Processes Result in Outcomes (GC-PRO) study were purposively sampled based on session time to include nine short (<25 min) and nine long (>45 min) sessions. Audio recordings of these 18 sessions were transcribed and then analyzed using a reflexive thematic coding approach according to Braun and Clarke, involving the study team familiarizing themselves with the data, coding and recoding, developing themes, revising and refining in relation to the coded data and then the full dataset. Four themes were generated: (1) genetic counselor behaviors influence session content and patient involvement, (2) patient behaviors vary based on levels of patient engagement and impact session direction, (3) patient characteristics are an opportunity for customized communication strategies, and (4) contextual factors impact patient care time and can be moderated via alternative information gathering approaches. This research suggests that GC sessions often involve substantial time spent gathering medical information and providing extensive information to patients (e.g., background information on genetics, genetic testing technologies) and genetic counselors engage patients variably with regard to questions and psychosocial prompts. Findings uncovered potentially modifiable factors-including the quantity of information provided, the extent of history collected, and unintentionally inhibiting patient questions-that may improve efficiency and, consequently, patient-centered care quality by providing more space for patients to engage, ask questions, and express emotions.
    Keywords:  encounter duration; genetic counseling; patient care time; patient–provider communication; time tracking
    DOI:  https://doi.org/10.1002/jgc4.70232
  6. Curr Comput Aided Drug Des. 2026 May 25.
       INTRODUCTION: Drug repositioning identifies new therapeutic applications for existing drugs, particularly for diseases lacking effective treatments. This approach can significantly reduce the time and cost of drug discovery. Recently, Machine Learning (ML) and Deep Learning (DL) have become pivotal tools in this field, facilitating the analysis of large-scale datasets and enhancing the accuracy, efficiency, and speed of identifying novel drug indications.
    METHODS: This systematic review examines recent advances in machine learning and deep learning approaches for drug repositioning. A comprehensive search of multiple databases yielded 24 relevant studies published between 2015 and 2025. The review analyzes model architectures, methodologies, and evaluation metrics, while also investigating data types and key findings related to the repositioned drugs.
    RESULTS: Results show that deep learning architectures, such as Graph Convolutional Networks (GCN), Deep Neural Networks (DNN), alongside machine learning models like Random Forest (RF), and Support Vector Machines (SVM), are highly prevalent. Across all reviewed studies, predictive models consistently demonstrate strong performance, with most accuracy-based studies reporting values above 90%, while studies using other evaluation metrics also show competitive results. DrugBank, PubChem, and ChEMBL emerged as the primary benchmarked databases, particularly in studies aimed at predicting Drug-Target Interactions (DTIs). While research remains concentrated on oncology and neurodegenerative diseases, the field is rapidly expanding toward other conditions.
    DISCUSSION: Our analysis demonstrates a clear move toward advanced deep learning frameworks, which have become the modern pillars for drug repurposing. However, a critical translational gap remains between successful in silico predictions and actual clinical outcomes, primarily due to challenges in model interpretability and data integrity.
    CONCLUSION: AI-driven drug repositioning offers a cost-effective strategy to accelerate drug discovery. To achieve real-world medical impact, future research must prioritize interpretable architectures, advanced deep learning frameworks, and robust hybrid models, particularly for treating rare diseases, to bridge the gap between computational success and clinical implementation effectively.
    Keywords:  Drug repurposing; computational drug repositioning; convolutional neural networks (CNN); deep learning; drug-target interaction (DTI).; machine learning; systematic review
    DOI:  https://doi.org/10.2174/0115734099434707260517095301
  7. Med. 2026 Jun 04. pii: S2666-6340(26)00154-6. [Epub ahead of print] 101151
      Gene therapies represent a paradigm shift in healthcare, offering the potential for one-time treatment of genetic diseases that require chronic, burdensome management. However, these transformative therapies pose distinctive challenges for traditional cost-effectiveness analysis (CEA). This review examines how CEA of gene therapies is complicated by five distinguishing attributes: rarity, one-time administration, high durable efficacy, substantial upfront costs, and potential financing challenges. We analyze approved gene therapies, ranging in price from $60,000 to over $4 million per treatment, and review US CEAs that assess long-term value, which often find list prices above thresholds but are comparable to other recent therapies. Key methodological challenges include limited data on rare diseases, inappropriate health utility sources, uncertainty about treatment durability, and potential undervaluation of transformative health improvements. Emerging solutions include innovative financing mechanisms, methodological advances, and evolving value frameworks. Developing appropriate economic assessment methods for gene therapies is crucial for ensuring patient access while maintaining innovation incentives.
    DOI:  https://doi.org/10.1016/j.medj.2026.101151