Therapeutic potential of rescuing mis-splicing in Fragile X Syndrome
Official title: Therapeutic Potential of Rescued FMR1 Mis-Splicing in Fragile X Syndrome
Funded at Univ of Massachusetts Med Sch Worcester · NIH-11369805 · Data updated 2026-11-12
A patient-centered look at using antisense therapy to fix mis-spliced FMR1 RNA in Fragile X Syndrome.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of Massachusetts Med Sch Worcester NIH-funded |
| Lab location | 1 site (Worcester, United States) |
| Project start | June 1, 2023 |
| Project end | May 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $418,750 |
| NIH project number | 5R01NS132935-04 |
| Project ID | NIH-11369805 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are individuals with Fragile X Syndrome, particularly those with biomarker signatures related to FMR1 mis-splicing and methylation.
✕Less likely to help
Patients without Fragile X or those whose disease biology does not involve the studied mis-splicing events may not benefit.
What this research studies
This grant explores using antisense oligonucleotides to correct mis-spliced FMR1 RNA in people with Fragile X Syndrome, aiming to restore normal FMRP production. Researchers studied RNA from individuals with Fragile X and matched controls to identify mis-splicing events and potential biomarkers. In lab models, specific ASOs were designed to block faulty splicing and are being tested for safety and effectiveness in cells derived from patients. The project moves toward translating these findings into a therapeutic approach that could reduce symptoms linked to Fragile X.
Why it matters
Potential benefit: If successful, this approach could lead to a new ASO therapy that improves brain function and developmental outcomes for people with Fragile X Syndrome.
How similar studies have gone: Prior research shows that ASOs can modulate splicing in human cells, with early findings supporting feasibility in Fragile X-related targets.
Where this research is happening
-
Univ of Massachusetts Med Sch Worcester
Worcester, United States Active
Researchers
- Principal investigator: Richter, Joel D — Univ of Massachusetts Med Sch Worcester
- Study coordinator: Richter, Joel D
Related research
Other NIH-funded projects on the same topics.
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Understanding Fragile X Syndrome: How it progresses and affects daily life
A long-term study using existing Fragile X data to map how the condition changes over time in children and young adults, including how autism, race, and location influence outcomes.
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Sleep and mood links in Fragile X Syndrome
A short, patient-friendly study to understand how sleep problems relate to mood and depressive symptoms in people with Fragile X–linked autism.
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Connecting 3D genome misfolding to gene silencing in Fragile X syndrome
A study in people with Fragile X syndrome focuses on how 3D genome folding errors may turn off important genes, contributing to the condition’s features.
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Cortical circuit problems in Fragile X mice and people
Researchers are studying how brain circuits go awry in Fragile X syndrome by comparing mice and people to understand why certain brain rhythms and responses are altered.
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Brain biology in fragile X syndrome: how brain signals unfold and vary in patients
This grant supports research to understand brain signals and why symptoms vary in people with fragile X syndrome, aiming to translate findings into better care.
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Brain research on Fragile X Syndrome to improve therapies
A multi-year program studies brain function and differences in Fragile X Syndrome to help develop better treatments for people with FXS.
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.