Open to recruitment
Autosomal Dominant Optic Atrophy (ADOA) is caused primarily by mutations in the OPA1 gene found on Chromosome 3. The OPA1 gene takes care of the production of the OPA1 protein. The OPA1 protein is found inside mitochondria, a part of the cell involved in making energy available so that the cell can function normally. Problems with vision are sometimes due to mitochondria not working properly. Due to a shortage of energy, the nerve cells in the eye cannot send visual information to the brain.
By collecting information from as many patients with ADOA through a natural history study, the sponsor of this study (Medpace UK (Stoke Therapeutics) hopes to learn and gather more information about your experience with ADOA over several years, increasing our knowledge about the disease.
The primary objective of this study is to evaluate the rate of change in patients with Autosomal Dominant Optic Atrophy (ADOA).
The aim of this natural history study is to evaluate the rate of change for patients with ADOA, by completing eye and vision assessments,, assessing quality of life and exploring factors associated with disease progression.
Who can take part?
– Individuals (aged (≥8 to ≤60 years old) with a diagnosis of Autosomal Dominant Optic Atrophy (ADOA) caused by mutations (changes) in the OPA1 gene.
What is involved?
Participants will be asked to visit Addenbrooke’s Hospital for up to 5 visits over a 24-month period. The study visits will involve:
– Collecting information about medical history and medical conditions
– Undergoing genetic testing (saliva or cheek swab)
– Completing physical examinations and a number of eye and vision assessments
– Completing quality of life (QOL) questionnaires
– Collecting blood samples for analysis