South Africa celebrates Rare Diseases Day by announcing first ever clinical trial.
The first ever clinical trial for a rare genetic eye disease – Stargardt Disease has just begun in South Africa. This condition affects the retina that lies at the back of the eye and converts light into a neural impulse which is sent via the optic nerve to the brain where vision occurs.
In Stargardt Disease [STGD] a genetic mutation [ mistake] in the ABCA4 gene, causes the death of cells in the central retina – the cone photoreceptors, which are responsible for fine focus vision like reading, writing, face recognition and using electronic screens.
The condition affects one in 10 000 in the population and is found in all racial groups. It is most commonly inherited from unaffected parents who are unwitting carriers of a single faulty gene. There is a 25% chance on each pregnancy that the child will inherit a copy of the faulty gene from both parents and thus the condition.
STGD is as yet untreatable but this new ground breaking clinical trial hopes to reverse the situation. The drug being tested is Emixustat, which blocks the accumulation of a toxic waste product called lipofuscin in the retina, caused by the gene mutation.
The trial is being conducted in South Africa, by Dr Liesl van Der Merwe for Acucela, the trial organiser. The recruitment of patients for the trial was done by the Division of Genetics at the University of Cape Town amongst patients who were part of the research programme aimed at identifying the genetic basis of Stargardt disease, (headed by Prof Raj Ramesar), and Retina South Africa.
This is an international multi-centre study that could lead to a registered treatment within the next few years. Dr Jeffrey Gregory, Vice President of Clinical Development and Medical Affairs at Acucela Inc. USA, who is visiting South Africa stated “We are extremely impressed with the South African arm of this study. The clinical facility is world class and the professionalism with which the study was recruited and is being conducted is exemplary. South Africa is the leading trial site in the number of patients that finally fulfilled all the clinical and genetic criteria for inclusion in the trial”.
Retina South Africa is the only NPO in South Africa dedicated to finding treatments for genetic retinal vision loss. They have been approached by another international company to recruit patients for a second genetic retinal condition. They can be contacted via their website www.retinasa.org.za.