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Optimizing rare disorder trials: a phase 1a/1b randomized study of KL1333 in adults with mitochondrial disease

• Authors : Pizzamiglio, Chiara; J. Stefanetti, Renae; McFarland, Robert ...

Subjects: Medical and Health Sciences; Medical Biotechnology; Medicin och hälsovetenskap

• Source: Brain. 148(1):39-46

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Qualitative study of fatigue in adults with primary mitochondrial disease: Development of the PROMIS Fatigue Mitochondrial Disease Short Form

• Authors : Clifford, Sarah; Stefanetti, Renae J.; Bahar, Roxana ...

Subjects: Medical and Health Sciences; Other Medical and Health Sciences; Other Medical and Health Sciences not elsewhere specified

• Source: Molecular Genetics and Metabolism. 145(4)

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De novo serine biosynthesis is protective in mitochondrial disease

• Authors : Wang, Liya; Sveriges lantbruksuniversitet, Originator

Subjects: Cell Biology; Cellbiologi

• Source: Cell Reports. 44

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PDK4 and nutrient responses explain muscle specific manifestation in mitochondrial disease

• Authors : Zhaivoron Aleksandra; Suomalainen Anu; Khan Nahid A. ...

Subjects: Medicine (General); Progressive external ophthalmoplegia; mitochondrial myopathy

• Source: Clin Transl MedClinical and Translational Medicine, Vol 15, Iss 7, Pp n/a-n/a (2025)

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Efficacy of KL1333 in Adult Patients With Primary Mitochondrial Disease (FALCON)

• Source: An Interventional, Randomised, Double-blind, Parallel-group, Placebo-controlled, Flexible-dose, Adaptive Study of the Efficacy of KL1333 in Adult Patients With Primary

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A Safety Study for Previously Treated Vatiquinone (PTC743) Participants With Inherited Mitochondrial Disease

• Source: An Open-Label, Safety Study for Previously Treated Vatiquinone (PTC743) Subjects With Inherited Mitochondrial Disease

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Study to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease From Nuclear DNA Mutations (nPMD) (NuPower)

• Source: A Phase 3 Randomized, Double-Blind, Parallel-Group, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Subjects With Primary

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A novel c.59 C > T variant of the HSD17B10 gene as a possible cause of the neonatal form of HSD10 mitochondrial disease with hepatic dysfunction: a case report and review of the literature

• Authors : Tao Jiang; Wenxian Ouyang; Haiyan Yang

Subjects: Male; Mitochondrial Diseases; 17-Hydroxysteroid Dehydrogenases

• Source: Orphanet J Rare DisOrphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-10 (2025)

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From stroke workup to mitochondrial disease: A case report of MELAS

• Authors : Yusuf Sevencan; Siddharth Rode, MD; Ashley Park, MD

Subjects: MELAS syndrome; Mitochondrial disease; Stroke mimic

• Source: Radiology Case Reports, Vol 20, Iss 12, Pp 6248-6252 (2025)

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Preliminary investigation on the economic cost of mitochondrial disease in Chinese children

• Authors : Chaolong Xu; Dan Zhao; Xin Duan

Subjects: Male; China; Mitochondrial Diseases

• Source: Orphanet J Rare DisOrphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-9 (2025)

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