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Maggie’s Pearl is improving a snowball’s chances

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“Not a snowball’s chance in hell. 
It’s a midwestern colloquialism for it’s not going to happen. Not in her lifetime anyways”.

Holly Carmichael

Founder and COO

Maggie’s Pearl

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Maggie’s Cure partners with Perlara, and a treatment candidate emerges. 

 

In 2017 Maggie’s Cure began work with Ethan Perlstein, founder of Perlara, the first biotech public benefit corporation focused on partnering with families to find treatments for rare genetic diseases. Perlara’s approach was to gather insights from under-used yeast, worm and fruit fly models as well as skin cells from rare disease patients to point researchers toward repurposed drugs that would treat and improve the lives of Maggie and other PMM2-CDG patients. The models were built and used for high-throughput screening of known drugs. We landed a “hit” in a Japanese drug called epalrestat – a drug used to treat diabetic peripheral neuropathy in geriatric patients with diabetes for decades in Asia. We tested this “hit” in Maggie’s fibroblasts (cells taken from a tissue sample from her forearm) and it boosted her PMM2 enzymatic activity.

 

N-of-1 trial has positive outcomes.

 

We received approval from the FDA to start a single-patient compassionate use investigational new drug (IND) trial and Maggie’s first dose of the drug started January 29th, 2020. We started to notice some changes only a few weeks. After several weeks and months the impacts became obvious and the lab results supported the progress and gains we saw. 

 

Her gross motor, stability, and strength have improved steadily. She stopped face-planting when she would crawl around the house, she’s able to use her walker when we travel instead of her wheelchair and can steer it and navigate it significantly better. 

Maggie’s Pearl origins

 

That’s what Maggie’s parents were told when doctors were asked about a possible treatment for their then 9-month old daughter who was diagnosed with a rare genetic disease called PMM2-CDG or Congenital Disorder of Glycosylation Type 1a that roughly 1,000 people in the world are known to have. It’s got a 20% mortality rate and is likely under diagnosed because it turns out to get good diagnostics (like newborn screening) you need therapeutics, which again, not a snowball’s chance in hell. Maggie’s parents stepped up and started Maggie’s Cure LLC with a commitment to improving the quality of life of children like Maggie.

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Our company is born, Phase III trial gets FDA approval.

 

In August 2020 Maggie's Pearl LLC (MP) was formed as a joint venture between Perlara and Maggie’s Cure and the Mayo Clinic. MP got the green light in December 2021 from the Food and Drug Administration to begin a Phase III clinical trial with 40 patients. Based on very positive results from the IND trial for Maggie and a few other children, we are excited to begin this next important step.

Phase III epalrestat trial begins soon…

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Families

Want to learn more about the PMM2-CDG clinical trial or our ongoing CDG research?

Partners

 

Would you like to become one of our research or clinical collaborators?

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