How actin gene changes cause bowel, bladder, and uterine muscle weakness
Biochemical and cellular mechanisms linking actin mutations to visceral myopathy
['FUNDING_R01'] · CHILDREN'S HOSP OF PHILADELPHIA · NIH-11168800
This project looks at how specific changes in the ACTG2 gene affect smooth muscles in people with visceral myopathy, including CIPO and MMIHS.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | CHILDREN'S HOSP OF PHILADELPHIA (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-11168800 on ClinicalTrials.gov |
What this research studies
As someone affected by visceral myopathy, I would know the team plans to make human ACTG2 proteins carrying different patient mutations and study them with biochemical and high-resolution structural methods to see how the proteins behave. They will test how mutant actin interacts with other actin-binding proteins and with actin filaments inside cells. They will also grow patient-derived stem cells into smooth muscle cells to observe how individual mutations change muscle cell form and function. Together these lab and cell approaches aim to reveal mutation-specific mechanisms that could point to targeted treatments.
Who could benefit from this research
Good fit: Ideal participants are people (or parents of children) with visceral myopathy such as CIPO or MMIHS, especially those with a known ACTG2 mutation who can provide clinical information or biological samples.
Not a fit: Patients whose symptoms are caused by non-ACTG2 genes or by non-smooth-muscle conditions may not directly benefit from findings focused on ACTG2 mechanisms.
Why it matters
Potential benefit: If successful, this work could enable therapies tailored to specific ACTG2 mutations to improve bowel, bladder, or uterine smooth muscle function.
How similar studies have performed: Genetic studies have already linked ACTG2 mutations to visceral myopathy, but this combined biochemical-to-stem-cell approach to define variant-specific mechanisms is relatively novel.
Where this research is happening
PHILADELPHIA, UNITED STATES
- CHILDREN'S HOSP OF PHILADELPHIA — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: HEUCKEROTH, ROBERT O — CHILDREN'S HOSP OF PHILADELPHIA
- Study coordinator: HEUCKEROTH, ROBERT O
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 below.