Supplementation with targeted amino acids in mitochondrial aminoacyl-tRNA synthetase diseases (STARS-mito)
What is this study about?
Researchers at the University of Cambridge and Cambridge University Hospitals NHS Foundation Trust are running a study to find out whether giving amino acids as a supplement to patients with mitochondrial aminoacyl-tRNA synthetase diseases increases the availability of amino acids in the body and therefore improves mitochondrial function.
Who can take part?
Individuals (aged 5-18 years old) with a confirmed genetic diagnosis of a mitochondrial disease caused by changes in one of the genes AARS2, EARS2 or DARS2, and who experience symptoms of their disease.
What drug is being tested?
Participants will receive an amino acid in powder form which corresponds to their disease.
- L-Alanine for AARS2
- L-Glutamine for EARS2
- L-Aspartic acid for DARS2
This amino acid is to be taken as a food supplement alongside regular meals three times a day.
What’s involved in taking part?
- 9 visits (6 onsite & 3 telephone calls), across a period of up to 42 weeks (just under 10 months)
- 24 weeks of an amino acid supplement
- Completion of diaries for the duration of the study, to keep a record of symptoms, dietary intake, seizures and infections
- Physical, neurological and cognitive assessments, and clinical rating scales (used to look at how severe a person’s condition is, their symptoms, and how their condition impacts their daily life)
- Blood and urine samples, physiological assessments, questionnaires about quality of life and short scans using either x-rays or ultrasound
Will there be any costs associated with my participation in the study?
Participants will receive the amino acid and all study-related care at no charge. Reasonable travel and accommodation costs will be reimbursed.
Are there any risks or benefits?
There is no guarantee that participants will benefit directly from taking part in this study. However, this study will enable doctors to gain a better understanding of how supplementation with amino acids may affect mitochondrial function and will help progress research towards potential treatments for people with tRNA synthetase diseases.
Participation in this study involves minimal risks, however some tests and procedures are occasionally associated with side effects:
- Taking blood is a routine clinical test that may cause some bleeding, bruising or discomfort
- Placement of a cannula into a vein (for blood sampling) can cause some discomfort and may lead to infection. Some people can get bruising at the site of insertion
- Bone densitometry (DXA) scans involve ionising radiation to form images of your body. Ionising radiation may cause cancer many years or decades after the exposure. 50% of the population are likely to develop one of the many forms of cancer at some stage during our lifetime. Taking part in this study will add only a very small chance of this happening to you
- Amino acid supplements are generally well tolerated. Some side effects can include gastrointestinal symptoms (such as bloating, flatulence, nausea and diarrhoea), changes in appetite or taste and mild fatigue or headache. You would be asked to contact the study team if you experience any adverse symptoms
How do I find out more?
If you think you/your child might be eligible and are interested in taking part in this research, or would like any further information, please contact the study team directly:
Tel: 01223 331506
Email: [email protected]
