Gene therapy

Gene therapy

The origin of Duchenne is known to researchers. A minor defect in the gene prevents the production of an essential protein – dystrophin. There are various mutations to the disease, i.e. the defect in each patient can be in another form or letter in the gene. Some patients have multiple mutations (in the gene there is one or more exon multiples), Some patients have a missing/deleted mutation (one or more exons are absent in the gene) and some patients have what is being referred to as a point mutation.

In all cases the result is the same – the protein production is stopped, and the muscles of the patients are exposed and vulnerable. The hope of all Duchenne patients is developing a technology that will know how to repair the defective gene by transplanting or repairing the gene. There are already developments in various stages all over the world and in Israel, which are based on the technology of inserting a normal gene for the implantation of the genetic code that will lead to renewal of the production of the protein.

Some gene therapy technologies are already in a very advanced stage of clinical trials.
In the United States, three companies (Sarepta, Solid and Pfizer) have already begun clinical trials in 2018 to demonstrate the effectiveness of an identical technology that attempts to introduce a micro dystrophin antibody gene to the microorganism gene (AAV). The complex challenges in proving the effectiveness of the technology are adapting the genetic code, which is very large in relation to the virus that should contain it, dealing with the immune system of the body that does not always recognize the virus and can attack it, as well as the ability to cause the virus to spread and reach all muscle cells in the body.

Our leading projects in this field focus on initiating research, providing resources and supporting ongoing research in Israel – in order to get as soon as possible treatment for our boys. At the same time, we are promoting cooperation with international companies in order to bring existing trials to Israel.

Our main projects in gene therapy:

1.Supporting Art Bioscience company, who develops technology aiming to create dystrophin protein from mRNA.

This Israeli company is working on developing a revolutionary technology for gene therapy without intervention in the gene itself. In a normal healthy body the protein is produced by the mRNA produced from the DNA. In Duchenne patients, since the DNA is damaged, the MRNA is also damaged and the protein is not produced. The company is working on technology to create proper MRNA in the laboratory.

The goal is use particles in order to inject normal MRNA into the body and to ensure that despite the defect in the DNA, a production of the protein will still exist and consequently the disease will be stopped. This development is currently under advanced laboratory trials but has not yet matured into a clinical trial in kids.

  1. Cooperation with the French company Genethon, in order to make available to children in Israel a clinical trial of mini-dystrophin gene therapy.

A technology based on the introduction of a shortened micro-dystrophin gene by the AAV virus is very advanced and there are already three companies that have started clinical trials, currently underway in the U.S only. Our goal is to make the trials available to children in Israel as soon as possible. Technology used by the companies mentioned above, has already begun clinical trials and the results are expected to be published during 2020.

In order to promote cooperation and bring this clinical trial to Israel, we are examining the results of clinical trials in France, with emphasis on examining the safety of treatment. At the same time, the procedures for obtaining permits for a clinical trial by the Israeli authorities have already begun. We are working to ensure that our boys in Israel will be among the first children in the world to receive this experimental and revolutionary treatment.

  1. Cooperation is taking place with the pharmaceutical giant Pfizer for the accessibility of experimental gene therapy for Israeli boys.

    In 2018, the pharmaceutical giant Pfizer began trial treatment as part of a clinical trial in genetic therapy. The technology is based on the introduction of a normal mini-dystrophin gene for the body through the AAV virus. With the introduction of the normal gene, partial production of the dystrophin protein is expected, with the hope that the the disease progression will slow significantly. Pfizer expressed their willingness to cooperate with A.D.I and to include Israel in a clinical trial – in the third stage. The negotiations between Pfizer and us are currently ongoing in order to bring the trial to Israel as soon as possible.

4.Initiating and supporting research by Prof. Rotem Karni (Hebrew University) to change the base sequence in RNA molecules for patients with deficits or duplications (doubles)

The research group headed by Prof. Karni is working on the development of new molecules that will be able to change the base sequence in RNA molecules in patients with DNA deletions or duplications. The logic, which is very similar to the developments already in clinical trials, is to allow a shorter, but still normal, translation of the dystrophin protein. The study is still at the examining cells stage; However, there are new discoveries and impressive progress that has been made. Nevertheless, the road is still long…

  1. Initiation and support of research, headed by Prof. Karni ,to stabilize RNA in Duchenne patients with the aim of optimizing existing drugs


Duchenne patients have a mutation in the gene encoding the dystrophin protein. The DNA, which is the hereditary material, is transcribed into RNA and from the reading sequence, it is translated into the dystrophin protein. Due to the defect in the gene, RNA is improperly reproduced and therefore decomposed, and protein is not produced. The study is working on new molecules that can delay the dissolution of existing RNA molecules for patients with point mutations.

We interpret the experimental results for the research group. The first trial ended successfully. An additional one, which will include a combination of approved drugs, is expected to begin. Our goal is to proceed as quickly as possible to pediatric clinical trials.

  1. Initiating and supporting the research of Prof. Miguel Weil (Tel Aviv University) focusing on personalized medicine for Duchenne patients

The study aims to identify several chemical molecules that represent active substances taken from the patients themselves, in order to quantify the protein level, to characterize the pharmacological effect of the molecule, and to locate biologically active substances that are specifically directed to the patients’ cells. We hope that positive outcomes will guide us toward an era of effective treatment for every single patient.