Glial signaling and breathing in Rett syndrome
Official title: Glial chemosensitivity and control of breathing in Rett syndrome
Funded at University of Connecticut Storrs · NIH-11389898 · Data updated 2026-11-12
Aims to understand how brain support cells (glia) in Rett syndrome affect breathing and whether IGF-1 related signals can improve it.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Connecticut Storrs NIH-funded |
| Lab location | 1 site (Storrs-Mansfield, United States) |
| Project start | September 15, 2026 |
| Project end | August 31, 2030 |
| Funding year | 2026 |
| Award (this year) | $775,807 |
| NIH project number | 1R01HL186713-01 |
| Project ID | NIH-11389898 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with Rett syndrome or Rett-like features where MECP2 mutations are implicated.
✕Less likely to help
Patients without Rett syndrome or with non-MECP2 related breathing disorders may not benefit.
What this research studies
This study looks at how astrocytes in a brainstem breathing center respond to CO2 changes in Rett syndrome and whether Trofinetide or IGF signaling can normalize breathing by influencing Kir4.1/5.1 channels. Researchers will build on prior findings that RTN astrocytes are involved in CO2 sensing and that Rett mice show altered this sensing, exploring if IGF-1 pathways can restore it. The project combines laboratory experiments with translational angles to connect cellular mechanisms to breathing patterns seen in patients, aiming to pinpoint how Trofinetide helps disordered breathing.
Why it matters
Potential benefit: If successful, the work could clarify why a Rett treatment helps breathing and inform better therapies.
How similar studies have gone: Prior work links IGF signaling and astrocyte function to breathing control, with some evidence of Trofinetide improving RTT breathing.
Where this research is happening
-
University of Connecticut Storrs
Storrs-Mansfield, United States Active
Researchers
- Principal investigator: Mulkey, Daniel K — University of Connecticut Storrs
- Study coordinator: Mulkey, Daniel K
Related research
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MeCP2 reactivation on the inactive X to treat Rett syndrome
This project explores turning on the silent MECP2 gene on the inactive X chromosome to help people with Rett syndrome feel better.
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Molecular Pathways Behind Rett Syndrome in Humans
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Understanding Rett Syndrome: How MECP2 Mutations Drive Brain Disease
This grant explores how mutations in MECP2 cause Rett syndrome and aims to uncover the brain changes that lead to intellectual disability in affected individuals.
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.