
About KrabbeConnect
Founders, Stacy Pike-Langenfeld and Anne Rugari, formed KrabbeConnect, a 501 (c)(3) in 2017, to bridge the gap between Krabbe disease science and patient knowledge.
The idea for KrabbeConnect originated from the 2015 Family Centered-Krabbe Translational Research Network meeting (FC-KTRN), a collaborative meeting between researchers and families to aid in solving the uncertainties of Krabbe disease. Through KrabbeConnect, the foundation provides a platform to amplify the voice of patients, aiding researchers and drug developers in accelerating research for better treatments for Krabbe disease.
Learn More about KrabbeConnect
KrabbeConnect’s dedication and efforts will advance research, provide family support, enhance education, and raise awareness, one step at a time. The organization will encourage patients, caregivers, medical scientists, clinicians, industry, and the government to work together quickly to assure a better life for patients. KrabbeConnect believes advances are made when we align ourselves with the same goal, improving the quality of life of those diagnosed with Krabbe disease.
We encourage you to learn more about us by understanding our Mission, Vision, and Multi-Center Approach here. If you have questions or want to connect with us, please Contact Us. We would love to hear from you!
🧬 Understanding “Variants of Unknown Significance” (VUS) in Krabbe Disease
Sometimes, genetic testing finds a change (variant) in the GALC geneThe GALC gene is located on chromosome 14. This gene provides instructions for making the enzyme galactocerebrosidase. This enzyme breaks down certain fats called galactolipids. Galactocerebrosidase More — the gene linked to Krabbe disease — but doctors and scientists aren’t yet sure what that change means. That’s called a Variant of Unknown Significance, or VUS.
It simply means:
➡️ The change might cause Krabbe disease — or it might not.
➡️ More research and data are needed to know for sure.
➡️ Over time, as more people are tested and more information is shared, these variants can be reclassified as either disease-causing or benign.
If you ever see “VUS” on a genetic report, know that it doesn’t give a clear answer yet — but it’s a starting point, and ongoing research helps us get closer to understanding what these results truly mean. 💙
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We are deeply grateful to those who have dedicated their lives to improving outcomes for individuals affected by rare diseases. While the community of researchers and clinicians in this space may be small, their impact is immeasurable. To those who stand with us—thank you will never be enough. Congratulations to these two incredible individuals, Michael H. Gelb and Joe Orisni, who continue to push for progress especially in #KrabbeDisease
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💙 Every step counts toward a cure! 💙
Join us for the 2nd Annual Anywhere Strides to #CureKrabbe, happening October 17–26, 2025. Walk, run, or roll—wherever you are—to honor those affected by Krabbe disease and help drive research forward.
It only takes 4 easy steps to sign up—scan the code, click “Join Now,” complete brief registration, download app - you are ready to start moving on October 17th for a cause that matters.
Together, we can make strides toward a future without Krabbe disease. 💪
#curekrabbe #RareDisease #WalkForHope #KrabbeConnect #virtualrun #krabbeconnect ... See MoreSee Less
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Encouraging news for the Krabbe community — GemmaBio has announced the launch of Rare Therapeutics Inc., a new company focused on developing and delivering gene therapies for ultra-rare diseases, including Krabbe disease.
At this time, no additional details have been released about the timeline or specific plans for Krabbe. As always, KrabbeConnect will continue to share accurate, timely updates with our community as more information becomes available.
This announcement brings hope, but details about when work will begin for Krabbe disease have not yet been shared.
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GEMMABio Launches Rare Therapeutics, Inc. to Develop and Deliver Gene Therapies for Ultra‑Orphan Diseases
www.prnewswire.com
/PRNewswire/ -- Gemma Biotherapeutics ("GEMMABio") – a leading global genetic medicines company today announced the launch of Rare Therapeutics, Inc....3 CommentsComment on Facebook
Stacy Pike-Langenfeld presented at the Association of Public Health Laboratories (APHL) Newborn Screening Conference - Characterizing Irritability in #KrabbeDisease: Implications for Early Diagnosis and Treatment Decisions
What we found:
-Krabbe irritability differs from colic in tone, associated behaviors, frequency, and prevelance
-Collaboration with experts and AI tools to analyze cries may help detect distinct patterns
-These patterns could help serve as a biomarker, supporting faster diagnosis
-This approach is especially valuable in regions without NBS for Krabbe disease
*We are immensely grateful to the families that participated - KrabbeConnect will work to publish this data.
* This work wouldn’t be possible without the funding of Rosenau Family Research Foundation
* We are thankful for the recruitment help from United Leukodystrophy Foundation and Partners for Krabbe Research
#curekrabbe #aphlnewbornscreening #krabbeconnect ... See MoreSee Less
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The APHL Newborn Screening Conference kicked off yesterday and Avery Coupe’s story was shared by her mom, Lindsey Coupe. Avery was diagnosed with Krabbe disease and some of the powerful statements made by Lindsey were as follows:
“Avery was born with this silent disease until symptoms and then our options were gone for treatment - our only choice was to give her the best quality of life we could until she passed.”
“Avery had lots of adventures - as much as we could squeeze in- however lots of doctors appointments, medical equipment, OT, PT, early intervention - and then we went from a 2 income family to a 1 income family.”
”I hope Avery’s story is the last one I see, it might be the only Krabbe story in Rhode Island, but I hope it’s the last story without access to treatment.”
#curekrabbe #newbornscreeningsaveslives #krabbeconnect ... See MoreSee Less
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