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Parents fight for a therapy for their son
Summary of an article by Barbara Haimerl, Salzburger Nachrichten, 12 September 2026, p. 8
At their home in Salzburg-Liefering, the newspaper visits Simon, the nine-year-old son of Edith and Reinhard Pell. Simon cannot sit or walk on his own. He has dystonia, a neurological movement disorder with recurring, painful muscle contractions, and his cognitive development is delayed. He still communicates in his own way: with sounds, by reacting to music and light, and by letting his mother know when he is hungry. According to Edith Pell, a social worker, music and water calm him. Simon goes to an all-day school in Glanbogen for children with physical and complex disabilities. His sister Elena turned two in May. Simon was born with MCOPS12, an extremely rare genetic disorder. As Reinhard Pell puts it, it is so rare that “Simon is the only patient with this disease in all of Austria.” There are about 80 known cases worldwide, and Simon is among the most severely affected. His symptoms have worsened over the years. When Simon was eight months old, the prognosis was bleak and there was no treatment. Reinhard Pell is a chemist who spent many years in pharmaceutical drug development. He contacted researchers in Canada and began connecting affected families. In 2020 the couple founded the non-profit association “Cure MCOPS 12”. Together with two sister organisations in the USA and Australia, it drives research and raises funds. So far the three associations have raised €600,000. The money funds drug development programmes in Canada and France, plus seven research projects on the mechanisms of the disease. Separately, the Pells’ association raised about €300,000 through crowdfunding to develop a therapy tailored to Simon. The breakthrough came last year: it now seems realistic that a custom RNA therapy can correct the effect of the gene defect and significantly improve Simon’s condition. Reinhard Pell calls the moment in June last year, when the team saw in Simon’s cell model that the gene defect could be switched off, “the happiest moment for us.” The scientific work is done. The last two steps now need about €500,000: producing the drug in clinical-grade quality for delivery into the spinal canal, and a toxicology study. The approach could also serve as a “blueprint” for other patients. Pell’s greatest wish is for Simon to one day speak to him in simple sentences. The article also reports that ten affected families from around the world were in Salzburg for an MCOPS12 conference at the Heffterhof that weekend, to meet with researchers. The first such conference took place last year in Montreal.
Donations: www.rarbmutation.org/donate, or Raiffeisenbank Region Braunau (IBAN as printed in the article), reference “Cure MCOPS 12”.
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