About LCA

What is Leber’s Congenital Amaurosis?
Leber’s Congenital Amaurosis (LCA) is the most common genetic cause of childhood blindness and affects about 15,000 patients in the Western world. LCA leads to poor vision and blindness for which there is currently no treatment. The disease usually appears in the first year of life and is characterized by progressive loss of vision. Depending on the genetic mutation patients usually become completely blind during the time between birth and the age of 8.

A process called photo transduction is disrupted in the light detecting cells (rods and cones) in the retina. Because these cells cannot perform their function properly patients experience nystagmus (involuntary eye movement), poor vision and blindness.



What causes Leber’s Congenital Amaurosis?
LCA is caused by mutations (or defects) in certain genes present in the DNA. There are over 19 known genes that can cause LCA when they are mutated. The most prevalent mutation is the p.Cys998X mutation, also known as c.2991+1655A>G mutation in the CEP290 gene causing Leber's congenital amaurosis Type 10 (LCA 10). The CEP290 gene is responsible for expression of the CEP290 protein (centrosome- and cilicum-associated gene centrosomal protein 290). LCA Type 10 accounts for the most severe form of LCA. Although diagnosis rates vary, we believe approximately 2,000 patients in the Western world have LCA 10 due to this mutation.

Amongst other functions the CEP290 protein helps the development of cilia in the photoreceptor cells (rods and cones) in the retina. A non functioning CEP290 protein causes subsequent retinal degeneration in LCA 10 patients.
Treatment
There are currently no approved treatments that treat the underlying mutation for any form of LCA.

About QR-110

ProQR is developing a novel drug, called QR-110, for Leber’s congenital amaurosis Type 10 patients that suffer from the p.Cys998X mutation, also known as c.2991+1655A>G mutation in the CEP290 gene. This mutation is the most common mutation in LCA 10 and although diagnosis rates vary we believe it affects approximately 2,000 patients in the Western world.

QR-110 is designed to work in a unique way. It aims to repair the genetic defect in the RNA, such that it leads to a normal “wild-type” mRNA. The RNA is the "blueprint" for protein synthesis. By repairing this "blueprint" a normal healthy CEP290 protein will be formed that is expected to have normal function. The goal of QR-110 is to repair the underlying defect in the RNA and with that stop the progression of or potentially even reverse some effects of LCA 10 caused by the p.Cys998X mutation.

Clinical trials
QR-110 is in the pre-clinical phase of testing the medicine. In 2017 we are moving this program towards a first clinical trial in humans. We will provide more information on this website as soon as these plans materialize.

Information for patients

QR-110 is an experimental medicine that we are developing for LCA 10 patients with the p.Cys998X mutation in the CEP290 gene. We are making good progress in the early stages of the development of the medicine, but we have yet to start the first clinical trial in people and therefore QR-110 is not yet available for patients. During 2017 we are moving this program towards the first clinical trial in people. For more information about the program please visit this page since we will post regular updates here first. If you have any other questions please read the FAQ below or contact us through the contact form and we will be happy to answer any question you have.

FAQ

Who is ProQR?
ProQR Therapeutics is a European company, founded in 2012 to develop a life changing therapy for patients suffering from severe genetic disorders like cystic fibrosis and LCA-CEP290.
What is QR-110?
QR-110 is an experimental medicine that is designed to treat LCA patients with the p.Cys998X mutation in the CEP290 gene. QR-110 aims to restore a normal mRNA in patients resulting in normal CEP290 protein with the goal of stopping the progression or potentially even reversing the effects of the disease. QR-110 has shown promising results in the lab but has not been tested in humans yet.
When and where will QR-110 be tested?
ProQR is moving this program towards first clinical trials in 2017. Updates will be posted to this website so please check back regularly.

Ask a question

You are now leaving ProQR Therapeutics

ProQR Therapeutics provides links to web sites of other organizations in order to provide visitors with certain information. A link does not constitute an endorsement of content, viewpoint, policies, products or services of that web site. Once you link to another web site not maintained by ProQR Therapeutics, you are subject to the terms and conditions of that web site, including but not limited to its privacy policy.

You will be redirected to

Click the link above to continue or CANCEL