Twenty-one children. A rare disease. A real chance.

Sophia Ibrahim (9), Emil (7), Mary (13) and Neveah (10), Jonathan (9), Charnice (4) and Madison (3) – five lovely and joyful kids from Australia, the United States, South Africa, UK and Germany. What do they have in common? A very rare genetic disorder: PGAP1-CDG.

They can’t speak, walking is difficult or impossible for some, and many things are only possible with support. And yet – they laugh, play, cuddle – and their families fight for them every single day.

“Worldwide, only 21 children are known to be affected by this gene defect,” say the geneticists, “with odds of around 1 in 21 million.”

But now, there is hope.

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A Breakthrough in Sight – We Need You!

Researchers at the renowned Children’s Medical Research Institute (CMRI) in Sydney have identified a small molecule that can stimulate the function of the defective PGAP1 gene. "Initial lab tests are promising: It works", says Leszek Lisowski, head of the research Programme. "Now, the molecule is to be tested on disease models built using cells of affected children – a crucial next step towards a therapy." In fact, the last step required to initiate clinical studies.

"We are very close and all kids affected by this ultrarare disease will be able to benefit from the results!"

To make this happen, we parents have built an international cooperation with the Department of Pediatric and Adolescent Medicine of the University Clinic Göttingen - UMG. “We see great potential in this new medical approach”, says Dr. Christin Johnsen, doctor at the UMG.

Everything is ready – we only need a few more funds to finance these last steps on the way to a therapeutic breakthrough.

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Why We Depend on Private Support

Ultra-rare diseases are often “not profitable” for the pharmaceutical industry. That’s why there is no public funding, no support from healthcare companies.

Nevertheless, we have a very realistic chance to substantially improve the lives of our kids and all other affected kids with this breakthrough research, if not cure the disease at all.

Us parents have already invested a lot of our own money – but now we can’t do it alone anymore.

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Help Us Turn Hope Into Reality

We urgently need USD 100,000 to conduct the next tests and bring the therapy into clinical trial for our kids.

Every single cent goes directly to the research at CMRI in Sydney and the implementation of the therapeutic approach.

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How You Can Help – Every Donation Matters!

Whether it’s USD 10, 50, 100, or 500 – every contribution brings us closer to making a therapy possible for our children. Together, we can make it happen!

All gifts will support (gene) therapy research into PGAP1 led by Children’s Medical Research Institute, including ancillary costs – such as salary and salary on-costs, and research and project costs including laboratory materials, samples, consumables and equipment. 100% of the donations will be used for this critical research. No administrative fees are taken by Children’s Medical Research Institute.

We’ve already come a long way – but we can’t move forward without you.

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Our Appeal to You

Help us give Emil, Mary, Jonathan, Charnice and Madison, as well as all other PGAP1 kids a real future.

A future with more possibilities, more inclusion – more life.

Be part of this story. Donate now.

watch our youtube explainer on PGAP1: https://youtu.be/OMOYnh690VU