The CHAMP1 Foundation is an organization created for parents of children with developmental delay, hypotonia, cerebral palsy, autism, and epilepsy among others diagnosed as a result of a change in the CHAMP1 gene.
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Undefeated CHAMP1 Podcast: the third episode is live!


This month on Undefeated: A CHAMP1 Podcast hosts Troy and Stephanie give a “News Update”, get “Into the Weeds” on research efforts by Dr. Richard Kelley, and introduce, Lily, our “Chattin’ CHAMPS” of the month. We also announce an exciting professional athlete that will be on air with us next month!

This monthly podcast aims to bring light to this genetic disease while sharing stories, experiences and updates regarding research efforts within our community. Grab a coffee and stick around!

You can listen on your phone or computer for free at Spotify, Apple podcastsAmazon music Audible and Podbean.

Listen to the third episode now »

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Meet our Champion Lily: she is 4 years old and was diagnosed with CHAMP1 gene mutation at 22 months

She loves listening to music and dancing. Lily recently learned how to video chat and is working hard on her therapies. 

More about this CHAMP1ON »

Support a CHAMP1ON today

Simons Searchlight has shared a new CHAMP1 Report

The goal of the report is to share up-to-date data contributed by families. The new report features information from the Child Behavior Checklist (CBCL). 

Download the report here 


Call for families: Dr Richard Kelley is using plasma amino acid profiles of several children with CHAMP1 to look for a treatable metabolic abnormality.

There are structural abnormalities outside the nucleus in CHAMP1 that could affect the distribution of mitochondria within cells. Dr Kelley has been recommending that laboratory studies be done to determine if there is evidence of mitochondrial dysfunction or other obvious metabolic disturbance. The amino acid abnormalities currently found in CHAMP1 patients suggest that there could be a common CHAMP1 metabolic disturbance that warrants further study and possible treatment.
We are currently recruiting 3 families to participate.
This test is common and may have already been given to your child.

For more information on how to participate please contact:

Fundraise website - CHAMP1 families 

CHAMP1 families are using this platform to fundraise, check now which team you would like to support. 

If you are a researcher 

Please contact our Foundation and we'll connect you with all research groups involved with CHAMP1 initiatives. 

Contact us >>
If you're a CHAMP1's parent

There are loads of ways to support the Foundation and its initiatives, from participating in studies to engaging with fundraising. 

Chat with a CHAMP1 parent >>
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CHAMP1 Research Foundation
Our mission is to improve the lives of those affected by CHAMP1 disorders through clinical research, effective treatments, public awareness, early detection, family support and patient advocacy.

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CHAMP1 Research Foundation · 1367 Whitewood Ave · Spring Hill, FL 34609-6165 · USA

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