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We run an active translational research programme.
If you are a doctor interested in making a referral, or someone with mitochondrial disease with questions concerning research or clinical trials, please email our research nurses, Louise or Iwona, at l.germain@nhs.net or iwona.skorupinska@nhs.net.
- Stride study
- Recruitment: active.
- Description: This is a trial testing the effectiveness and safety of a new medication (REN001) for mitochondrial muscle disease.
- Eligibility: patients with muscle symptoms and a mutation in mitochondrial DNA or in nuclear DNA.
- Contact: l.germain@nhs.net
- MRI for mitochondrial myopathy
- Recruitment: active.
- Description: This is a study looking at the effectiveness of new MRI techniques to monitor disease progression in mitochondrial disease.
- Eligibility: patients with mitochondrial disease due to mutations in the mitochondrial DNA.
- Contact: l.germain@nhs.net
- Falcon study
- Recruitment: completed.
- Description: This is a trial testing the effectiveness and safety of a new medication (KL1333) for mitochondrial muscle disease.
- Eligibility: patients with muscle symptoms and a mutation in mitochondrial DNA.
- Contact: l.germain@nhs.net
- SPIMD
- Recruitment: completed.
- Description: This is a trial testing the effectiveness and safety of a new medication (elamipretide) for mitochondrial muscle disease.
- Eligibility: patients with muscle symptoms and a mutation in nuclear mitochondrial genes (e.g., POLG) or mitochondrial DNA.
- Contact: l.germain@nhs.net
- Lily Precision Diagnostics Study
- Recruitment: accepting expressions of interest.
- Description: This study will offer access to the latest technologies for patients who do not have a genetic diagnosis for their mitochondrial disease.
- Eligibility: Patients referred from their consultant who have had NHS testing but still lack a diagnosis.
- Contact: mitostudy@nhs.net