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  2. ORION: Outcomes Research in Inherited Optic Neuropathies - Cambridge…

    https://mitocamb.medschl.cam.ac.uk/our-research/research-studies/understanding-studies/orion-outcomes-research-in-inherited-optic-neuropathies/
    23 Feb 2024: Loading. Menu. Menu. Search. ORION: Outcomes Research in Inherited Optic Neuropathies. ORION: Outcomes Research in Inherited Optic Neuropathies. Status: Open to recruitment. Background. Inherited optic neuropathies (IONs) are a group of heritable
  3. A retrospective study of subjects with a mutation in the…

    https://mitocamb.medschl.cam.ac.uk/our-research/research-studies/understanding-studies/a-retrospective-study-of-subjects-with-a-mutation-in-the-c12orf65-gene-causing-complex-charcot-marie-tooth-disease-type-6-cmt6/
    23 Feb 2024: C12orf65 genotype and phenotype, and to develop new clinical trials, observational studies, and eventually treatments. ... participants. This will help us to guide the design of innovative new clinical trials, with the long-term goal of developing
  4. The role of Nicotinamide Riboside in mitochondrial biogenesis (NR) -…

    https://mitocamb.medschl.cam.ac.uk/our-research/research-studies/treatment-studies/the-role-of-nicotinamide-riboside-in-mitochondrial-biogenesis-nr/
    23 Feb 2024: Loading. Menu. Menu. Search. The role of Nicotinamide Riboside in mitochondrial biogenesis (NR). The role of Nicotinamide Riboside in mitochondrial biogenesis (NR). Status: Closed to recruitment. In analysis. Background. Mitochondria are important
  5. Genotype and Phenotype in Inherited Neurodegenerative Disease -…

    https://mitocamb.medschl.cam.ac.uk/our-research/research-studies/understanding-studies/genotype-and-phenotype-in-inherited-neurodegenerative-disease/
    23 Feb 2024: A genetic diagnosis is extremely important because it allows doctors to provide accurate genetic counselling to patients and their families and opens up opportunities to develop new treatments. ... Tissue Sample Sub-study. Objectives. We hope to develop
  6. FALCON study: Efficacy of KL1333 in adult patients with primary…

    https://mitocamb.medschl.cam.ac.uk/our-research/clinical-trials/falcon-study-efficacy-of-kl1333-in-adult-patients-with-primary-mitochondrial-disease/
    23 Feb 2024: Loading. Menu. Menu. Search. FALCON study: Efficacy of KL1333 in adult patients with primary mitochondrial disease. FALCON study: Efficacy of KL1333 in adult patients with primary mitochondrial disease. Status: Closed to recruitment, treatment-phase
  7. The effects of oxygen in the context of mitochondrial dysfunction…

    https://mitocamb.medschl.cam.ac.uk/our-research/research-studies/treatment-studies/the-effects-of-oxygen-in-the-context-of-mitochondrial-dysfunction-mitox/
    23 Feb 2024: Loading. Menu. Menu. Search. The effects of oxygen in the context of mitochondrial dysfunction (Mitox). The effects of oxygen in the context of mitochondrial dysfunction (Mitox). Status: Closed to recruitment. In analysis. Background. Oxygen is
  8. A prospective natural history study of patients with autosomal…

    https://mitocamb.medschl.cam.ac.uk/our-research/research-studies/understanding-studies/a-prospective-natural-history-study-of-patients-with-autosomal-dominant-optic-atrophy-falcon/
    23 Feb 2024: Status: Closed to new recruitment. Active for enrolled patients. Background. Autosomal Dominant Optic Atrophy (ADOA) is caused primarily by mutations in the OPA1 gene found on Chromosome 3.
  9. BioResource: Genes and Cognition - Establishing a stratified…

    https://mitocamb.medschl.cam.ac.uk/our-research/research-studies/understanding-studies/bioresource-genes-and-cognition-establishing-a-stratified-population-cohort-of-40000-people-recallable-for-pre-clinical-studies-of-neurodegeneration-and-dementia/
    23 Feb 2024: Loading. Menu. Menu. Search. BioResource: Genes and Cognition – Establishing a stratified population cohort of 40,000 people recallable for pre-clinical studies of neurodegeneration and dementia. BioResource: Genes and Cognition – Establishing a
  10. Development of a patient reported outcome measure (PROM) for patients …

    https://mitocamb.medschl.cam.ac.uk/our-research/research-studies/survey-studies/development-of-a-patient-reported-outcome-measure-prom-for-patients-with-inherited-optic-neuropathy-ion/
    23 Feb 2024: What is involved? We will ask participants to help us develop and test a new questionnaire. ... We may also ask participants to provide feedback on the questions that we have developed for the new questionnaire.
  11. SPIMD-301: Efficacy and Safety of Elamipretide in Subjects with…

    https://mitocamb.medschl.cam.ac.uk/our-research/clinical-trials/spimd-301-efficacy-and-safety-of-elamipretide-in-subjects-with-primary-mitochondrial-disease/
    23 Feb 2024: Loading. Menu. Menu. Search. SPIMD-301: Efficacy and Safety of Elamipretide in Subjects with Primary Mitochondrial Disease. SPIMD-301: Efficacy and Safety of Elamipretide in Subjects with Primary Mitochondrial Disease. Status: Closed to recruitment,

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