Status: In set-up
Background
Amino acids are the building blocks of proteins. In order for the proteins to be ‘built’ the body needs both the amino acids and a small molecule called transfer RNA (tRNA).
Mitochondrial tRNA synthetases (mt-ARS) are enzymes which are found in the mitochondria in our cells and are involved in making proteins. There are 17 mt-ARS enzymes. Genetic changes in any of the mt-ARS genes are an important cause of mitochondrial disease in children.
tRNA synthetase diseases are complex and rare incurable disorders, which affect those who have them in many different ways and cause a range of symptoms, which can get worse over time. Some people experience more severe symptoms than others.
Research Aims
The main aim of this study is to find out whether or not 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 to 18 years old
- Individuals with a confirmed genetic diagnosis of a mitochondrial disease caused by changes in one of the genes AARS2, EARS2 or DARS2
- Individuals experiencing symptoms of their disease
What is involved?
Participants will be required to take part in the study over a period of up to 42 weeks (just under 10 months) .
We will ask participants to:
- Attend Addenbrookes Hospital, Cambridge for 6 on-site visits (each lasting between 6-8 hours).
- Receive 3 telephone calls.
- 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 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