bims-tyki2d Biomed News
on Thymidine kinase 2 deficiency
Issue of 2025–12–07
two papers selected by
Zoya Panahloo, UCB
  1. Elamipretide: First Approval.
  2. [Developmental of a Support System for the Genetic Diagnosis and Counseling of Rare Disease].
  1. Drugs. 2025 Dec 03.
    Elamipretide: First Approval.
    Matt Shirley.
      Elamipretide (Forzinity™) is a mitochondrial cardiolipin binder being developed by Stealth BioTherapeutics for the treatment of a range of disorders featuring mitochondrial dysfunction. In September 2025, elamipretide was granted accelerated approval in the USA for use to improve muscle strength in adult and pediatric patients with Barth syndrome weighing ≥ 30 kg. With this accelerated approval, elamipretide became the first disease-specific treatment approved for Barth syndrome, an ultra-rare X-linked recessive genetic disorder. Elamipretide is also under phase III clinical development for use in the treatment of dry age-related macular degeneration and mitochondrial myopathies. This article summarizes the milestones in the development of elamipretide leading to this first approval for Barth syndrome.
    DOI:  https://doi.org/10.1007/s40265-025-02269-8
  2. Jugan Geongang Gwa Jilbyeong. 2024 Mar 07. 17(9): 351-366
    [Developmental of a Support System for the Genetic Diagnosis and Counseling of Rare Disease].
    Gu-Hwan Kim, In-Hee Choi, Beom Hee Lee, Jiwon M.
      There are difficulties in diagnosis and counseling after genetic testing, due to the increase in the rate of diagnostic results arising from the development of genetic testing techniques and the discovery of mutations with unclear pathogenicity derived from next-generation sequencing. By presenting examples of additional support provided for the interpretation of results after genetic testing and subsequent genetic counseling support, we attempted to present a system that seeks to resolve difficulties that may generally be experienced in the post-genetic testing process. Fifteen cases of interpretation support were provided through the post-genetic-testing result-interpretation support project under the support of the Korea Disease Control and Prevention Agency, and effective genetic counseling support was provided accordingly. Diagnostic support through the interpretation of results after genetic testing was aimed at resolving the diagnostic odyssey of rare genetic diseases. Moreover, support for appropriate diagnoses can reduce the social and economic burdens. We propose a national-level management system for medical genetics team services covering treatment, testing, and counseling.
    Keywords:  Genetic counseling; Genetic testing; Rare diseases
    DOI:  https://doi.org/10.56786/PHWR.2024.17.9.1
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