Oral Levodopa treatment in Improving Visual development in Infants and young children with Albinism-the OLIVIA study

目前，白化病中出现的眼睛问题还没有治疗方法。白化病患者的平均视力为20/80，低于英国的驾驶标准，这对学校、工作和社交生活都有影响。这就是为什么找到一种可以改善白化病视力的治疗方法，在2013年被视力丧失和视力优先设置伙伴关系列为优先事项。我们知道，儿童的大脑具有惊人的改变和适应能力。我们还知道，当我们使用眼镜和补丁改善懒眼的视力时，我们利用了大脑重新连接自身的能力。在白化病中，一种名为L-多巴的化学物质从眼睛中缺失，这会导致眼睛发育问题。这就是白化病视力如此之差的原因。然而，白化病儿童的眼睛仍然能够发生变化和发育。类似于懒眼的治疗，我们可以针对白化病的这种灵活性。潜在地，在年轻时取代L-多巴治疗白化病，将改善眼睛发育和视力。这项研究的主要目的是首次证明，通过替换丢失的L-DOPA，我们可以改变出生后白化病患者的眼睛发育方式，提高视力。我们还将通过测试L多巴在不同年龄、剂量和时间给药对白化小鼠眼睛发育和视力的影响，找出最佳剂量。本研究的第二个目的是进行L多巴治疗白化病儿童的小型试验。L多巴是一种安全的药物，目前正用于治疗出生时四肢运动控制有问题的婴幼儿。我们将与受影响儿童的父母一起探讨作为这项试验的一部分进行的治疗和检查是否合理。如果成功，这项研究将彻底改变白化病儿童的治疗方式。它还将为开发影响儿童的其他眼病的新疗法开创重要先例。

Currently, there are no treatments for the eye problems seen in albinism. The average vision in albinism at 20/80, is below UK driving standards, which has implications for school, work and social life. This is why finding a treatment that can improve eyesight in albinism, was named as a priority by the Sight Loss and Vision Priority Setting Partnership in 2013. We know that the brain has the amazing ability to change and adapt in children. We also know that we make use of the brain's ability to rewire itself, when we improve eyesight in lazy eyes using glasses and patching. In albinism, a chemical called L-DOPA is missing from the eye and this causes problems with eye development. This is why eyesight is so poor in albinism. However, the eye is still able to change and develop in young children with albinism. Similar to the treatment of lazy eyes, we can target this flexibility in albinism. Potentially, replacing L-DOPA in albinism at a young age, will improve eye development and eyesight. The main aim of this study is to prove for the first time that we can change how the eye develops and improve eyesight in albinism after birth, by replacing the missing L-DOPA. We will also figure out what the best dose of L-DOPA is, by testing its effects on eye development and eyesight in mice with albinism, when given at different ages, doses and lengths of time. The second aim of this study is to carry out a small trial of L-DOPA treatment in children with albinism. L-DOPA is a safe medicine that is currently being used to treat infants and young children born with problems in controlling movement of their limbs. We will explore, together with the parents of the affected children, if the treatment and examinations carried out as part of this trial are reasonable. If successful, this study will completely change how children with albinism are treated. It will also set an important precedent for the development of new treatments for other eye diseases that affect children.