Research into the natural development of Usher Syndrome is essential in the phase of therapeutic scientific developments. Many and detailed eyesight and hearing measurements are to be recorded in order to be able to measure the effectiveness of a future therapy. Only after studies have demonstrated the effectiveness of a therapy, this will be made available to patients on a large scale.
18% of the 400,000 patients suffering from Usher Syndrome around the world has mutations in the USH1 gene. Due to the mutations (changes) in the USH1B gene the myosin protein is not or hardly produced. Due to a shortage of the myosin protein the cochlea in the ear of the unborn child is not properly built up during pregnancy. Consequently, children suffering from USH1B are born deaf and have balance problems. The first signs of reduced eyesight will show during childhood. This starts with night-blindness to be followed by an ever narrowing field of vision. Children born with USH1B are given cochlear implants on two sides in their early childhood, which make them hear well and enable them to properly develop speech and language, if necessary supported by sign language.
For patients suffering from USH1B there is little information available about the natural development of the eyesight. After the start of the RUSH2a and the CRUSH studies in the Radboud UMC in Nijmegen, the Netherlands, a study into the natural development of USH1B was started in the Oogziekenhuis Rotterdam, the Netherlands. The first patients have already been included, but more participants are required. In this study researchers want to follow 15 – 20 participants with 3 eye tests in 2 years.
Read the call of the Oogziekenhuis Rotterdam below.
Usher type 1B: call for participation in the natural development study.
A study into the natural development with patients suffering from the Usher Syndrome type 1B was started in the Oogziekenhuis Rotterdam, the Netherlands. This type of Usher is characterised by serious deadness and balance problems from birth, followed by a development of retinitis pigmentosa (RP) during childhood. The Usher Syndrome type 1B is much more uncommon than, for instance, Usher Syndrome type 2A. Therefore less is known about the seriousness and the progression of this type of retinitis pigmentosa. Usher type 1B is caused by changes (mutations) in the MYO7A gene. This gene determines the code for the myosin protein. The function of myosin is, among others, to take care of transport in the retina cells. Professor Alberto Auricchio of the TIGEM institute in Naples, Italy, has studied gene therapy as a treatment of RP caused by MYO7A mutations for many years. He has received a major grant from the European Union to continue his research (www.ushther.eu)).
A part of this large project is the natural development study, in which not Only the University of Naples but the Oogziekenhuis Rotterdam and an institute in Madrid participate as well. The information gained from this study will eventually be very important to be able to compare the effect of gene therapy with ‘doing nothing’.
This study includes 3 extensive eye tests in the Oogziekenhuis Rotterdam: there is a baseline measurement which will be repeated after 1 en 2 years. It is important to mention that no treatment will be tested in this part of the study.
We would like to come in contact with patients who want additional information about the study and who may want to participate. It is important that you carry MYO7A mutations. Another restriction is that children younger than 8 years cannot participate. If you want additional information about this study, you are heartily invited to contract Dr Ingeborgh van den Born of Ms Annemiek Krijnen (tel.: 0031-(0)10 -4023449, e-mail firstname.lastname@example.org.
Do you suffer from Usher Syndrome type 2? Register for the CRUSH study in Nijmegen, the Netherlands. Participants are needed for this study as well! Read more about the CRUSH study and how to register