Gene Therapy

2020: a new decade for the world … and for the CdLS Federation! We are finding now that more children with CdLS are having testing for the genetic variation causing CdLS. Currently, we are aware of seven genes that can lead to CdLS when a variant or mutation is present in the gene. These genes are responsible for making some of the proteins involved in the cohesin complex. The cohesin complex is an important part of cell function and regulating many other genes, starting soon after conception and continuing throughout life. When a CdLS gene is unable to make the correct protein because of a specific mutation, the cohesin complex is impacted in some way. Since the cohesin complex is an important part of the health of cells within all parts of the body, and begins working so early in life, the range of symptoms with CdLS is broad and can start during pregnancy. Gene testing for CdLS is more complicated than in many other conditions.

The topics of genetic research and gene therapy in CdLS have been raised periodically. This area is much more clear-cut in conditions in which there is a single gene, having a specific effect on everyone with the condition. All the resources for those conditions can be put towards addressing this and looking for ways to reverse, improve or go around the mutations’ effects. For example, in spinal muscular atrophy (SMA), the abnormal gene does not make the protein which directly affects the muscle. Replacing the missing protein directly through gene therapy improves that muscle’s function, the main issue in SMA. But, the genes involved in CdLS have an impact on the formation and function of many body systems from the time of the earliest embryo through until at least the first year after birth. Thus, with CdLS, because the genes are many, the mutations are diverse, and our population of individuals with CdLS has a broad spectrum of involvement, the way forward is less clear.

Since the late 90’s, researchers have been investigating CdLS and cohesin, both in human samples and in animal models. Progress was made in identifying the genes, but it has been much slower in finding ways to change the effects of the mutations. Once the effects of the mutations on cohesin are known, then the researchers can turn to ways to reverse, improve or turn back those effects. They often look at medications, enzymes, vitamins, or other cofactors that are already in use in the general population. But each substance has to be vetted and challenged in animals long before trials in humans. This is the stage that the research is in at this moment. Once the research reaches the point of human trials, every child participating will need to have confirmed genetic testing.

We also have reached out to find out what families are interested in, in terms of future treatment. The majority of families are interested in treatments that could help with developmental and communication skills, and improve organ system functioning. They would also be interested in medications that are FDA approved and used in treatment for other reasons. Almost half would be interested in potential trials of new medications or substances that are not currently in use or aren’t approved by the FDA yet. Although it may take many years yet before treatment trials and/or gene therapy are available for CdLS, we are working towards this slowly.

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Tonie Kline

Dr. Kline has provided an overview on Opportunities for Gene Therapy in CdLS . Although there is no cure for CdLS at this moment, our understanding of the mechanism that creates the syndrome has greatly improved. Researchers are taking deliberate steps to prepare for the day when clinical trials become a reality

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Last modified by Gerritjan Koekkoek on 2020/03/07 13:05
Created by Gerritjan Koekkoek on 2020/03/07 12:54

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