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 was 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. Hamburg specialized 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 was being prepared there. Exactly this genetic defect is causing SMARD in the affected children.
This study is extremely promising as the gene therapy developed in Ohio for the other mentioned gene defect has achieved extraordinary success! This other 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 recently also in the EU 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. For this reason the organization smashsmard.org was founded in the USA by another family with a son affected by SMARD. Jules parents have teamed up with this organization and consequently founded the non-profit SMASHSMARD Deutschland e.V. The initiative SMASHSMARD Deutschland e.V. was able to raise this incredible amount thanks to the extraordinary support of the many donors together with their US partners.
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The pre-clinical study work was successfully submitted and has been approved by all relevant boards so that the clinical study [5] could be started December of last year. This brings much longed-for hope for all affected.
The tremendous effort is even more impressive, as the common time frame is much longer for comparable processes. [6]
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The initiative will continue to raise funds and awareness for this cruel disease in order to push research and decipher SMARD. The goal is creating treatment.
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[1] https://en.wikipedia.org/wiki/Nationwide_Children%27s_Hospital
[2] https://www.nationwidechildrens.org/find-a-doctor/profiles/kathrin-c-meyer
[4] https://www.zolgensma.com/
[5] https://clinicaltrials.gov/ct2/show/study/NCT05152823?draw=2