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  • Home
  • News and Updates
  • Therapeutic Approaches
  • Our Cure CLCN6 Pioneers
  • Media Coverage
  • Fundraising Events
  • Image and Video Gallery
  • About Us
  • Make a Donation

Our Mission: The Story of Cure CLCN6

Cure CLCN6 is committed to raising awareness of CLCN6 gene mutations, providing essential rare disease support and advocacy for affected children and their families, and funding the research and development of gene therapy initiatives and ultimately, a cure.

Meet Paxton

Paxton is the son of the founders of Cure CLCN6, Paul and Kristin.
Paxton was diagnosed with a CLCN6 mutation (F254S/Phe254Ser) variant in 2024, when he was seven years old.
Paxton is happy and loving boy who loves spending time with his family, going on the swings, playing with his stim toys, watching cartoons, and being with his friends at school. 

Paxton has lost speech and mobility over time, which highlights the urgency to develop a gene therapy treatment to stop neurodegeneration, to give him hope and an opportunity for a better future. 

You can follow Paxton's journey on Instagram and Facebook at https://www.instagram.com/paxtons_pioneers/

https://www.facebook.com/profile.php?id=61565863479661

MEET OUR CLCN6 PIONEERS

Paxton

Paxton is a happy and loving nine year old boy, who loves spending time with his family, going to the park to enjoy the swings, playing with his stim toys, and going to school to be with his friends. 

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Mission

Cure CLCN6 is committed to raising awareness of CLCN6 gene mutations, providing essential rare disease support and advocacy for affected children and their families, and funding the research and development of gene therapy initiatives and ultimately, a cure.

Find out more

OUR IMPACT

Families Discovered

Families around the world are contacting us that their children have also been diagnosed with mutations on the CLCN6 gene. 


We have been in contact with 13 other families (as of 6/1/2026).

Countries Served

As the only patient advocacy group for CLCN6 mutations, we serve families all over the world, from seven different countries (as of 6/1/2026).

Variants Identified

From the families that have shared their child's variant, we have identified eight different variants.

Copyright © 2024 Cure CLCN6 - All Rights Reserved.


Cure CLCN6 Inc., is a registered non-profit agency in the state of California. as a Tax Exempt 501(c)3) organization.

EIN: 33-1628589

Donations to cure clcn6, inc., are tax deductible within the guidelines of the U.S. law.

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