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Medical Background

About SMARD (Spinal Muscular Atrophy with Respiratory Distress)

    

SMARD is caused by a very rare and congenital defect in the IGHMBP2 gene. This genetic defect causes an important protein to be formed incorrectly. Therefore nerve cells are not nourished properly. Impulses from the brain do not sufficiently reach the muscles in the body. As a result, the patients’ muscles retract, which also affects their diaphragm and their ability to breathe. Many affected patients do not even reach the stage of infancy.

There is no research around treatment options for this fatal disease, either in Germany or in the rest of Europe. However, as genetic research is further evolving, a therapy for a defect on a very similar gene has already been successfully developed in the USA. This was lead by the center for gene therapy at the Nationwide Children's Hospital in Columbus, Ohio. [1] This institute has a worldwide recognition as a leading institution in the research of gene therapies. Jule's supervising physician, PD Dr. J. Denecke of the UKE (Universitätsklinikum Hamburg-Eppendorf) also confirms that the Center for Gene Therapy in Ohio has developed the most promising approaches for a SMARD therapy.

Jules' parents have contacted Kathrin C. Meyer, PhD, head of the research laboratory in Ohio,[2] as a clinical study on the gene defect IGHMBP2 is currently being prepared there. Since Jule was diagnosed with exactly this genetic defect, she is earmarked for this study. Jule   met the research and medical team  in August 2019 and first test results have shown that she would be viable to enter the trial.

 

This study is extremely promising as the gene therapy developed in Ohio for the other mentioned gene defect has achieved extraordinary success! This genetic defect can now be treated. [3] The clinical trial resulted in the successful development of the drug Zolgensma. [4] Zolgensma has been approved in the USA since May 2019 and is marketed by the pharmaceutical company Novartis.

This therapy method uses a so-called vector that is equipped with a healthy copy of the defective gene. It is than placed in the bloodstream with a single syringe, through which the healthy copy reaches the cells. Where the defective gene is relevant, the healthy copy of the gene takes over the disturbed functions.

It is very obvious that the results of this research might have a huge impact on the treatment of other genetic diseases worldwide. Obviously, funding is required. To realize the new clinical trial, approximately 2.1 million USD are needed. Over 700,000 USD have already been raised together with another  family with a son that has SMARD in the United States. The initiative SMASHSMARD Deutschland e.V. is aiming to raise further funds through donations and foundation funds over the next months.

 

    

Hamburg, 15 August 2019

[1] https://en.wikipedia.org/wiki/Nationwide_Children%27s_Hospital

[2] https://www.nationwidechildrens.org/find-a-doctor/profiles/kathrin-c-meyer

[3] https://www.aerzteblatt.de/nachrichten/83238/Gentherapie-verlaengert-Leben-bei-spinaler-Muskelatrophie-Typ-1

[4] https://www.zolgensma.com/