RNF213 and Moyamoya Disease in Children

Who could benefit from this research

What this research studies

This project focuses on Moyamoya disease, a condition where brain arteries narrow and can cause stroke in kids. Researchers will look at how a specific RNF213 variant seen in Asian families changes cell behavior, especially smooth muscle cells, and whether this leads to blocked vessels. They will connect laboratory findings to how the disease develops in very young patients and test strategies that may boost cell energy production to restore normal differentiation. The work builds on earlier findings that altering mitochondrial function can help prevent lesion formation in mouse models. The study combines genetic analysis with cell and animal experiments to map the steps from RNF213 mutation to vessel occlusion in early life.

Why it matters

Where this research is happening

• University of Texas Hlth Sci Ctr Houston
  Houston, United States Active

Researchers

• Principal investigator: Milewicz, Dianna M — University of Texas Hlth Sci Ctr Houston
• Study coordinator: Milewicz, Dianna M

Related research

Other NIH-funded projects on the same topics.

• Personalized vascular and metabolic signs after revascularization in moyamoya disease

  A multi-site study will look at brain imaging and blood/CSF signals in adults with moyamoya disease to understand which biomarkers relate to stroke risk and how patients respond to treatment.

  NIH research Vanderbilt University Medical Center · Nashville, United States · NIH-11327640

• Understanding how blood flow and brain health relate to treatment in moyamoya disease

  This study is looking at how blood flow and certain markers can help us understand the risk of strokes in people with moyamoya disease, so we can better identify who might benefit from surgery to improve their condition.

  NIH research Vanderbilt University Medical Center · Nashville, United States · NIH-11074611

• Investigating the role of a gene in the development of Moyamoya disease

  This study is looking at how a specific gene called SETD5 affects Moyamoya disease, which causes blood vessels in the brain to narrow and can lead to strokes, especially in kids, with the goal of finding new ways to help improve treatment for patients.

  NIH research University of Texas Hlth Sci Ctr Houston · Houston, United States · NIH-10724796

• Risk prediction for stroke and cognitive decline in Moyamoya disease and Moyamoya syndrome

  A large multicenter study tests whether combining clinical data, imaging, lab and genetic information can predict who will have stroke or cognitive decline among people with Moyamoya.

  Recruiting Beijing Tiantan Hospital · Beijing, Beijing Municipality and 12 other locations · NCT07894107

• 5T MRI and Metabolomics to Predict Hemorrhage Risk in Moyamoya Disease

  This study tests whether advanced 5T MRI imaging and metabolomics can help predict which moyamoya patients are at higher risk of intracranial hemorrhage.

  Recruiting Beijing Hospital · Beijing, Beijing Municipality · NCT07781579

• XR-assisted CT-guided localization for EC-IC bypass in Moyamoya and chronic cerebral ischemia

  The study tests whether a metaverse-based surgical simulation with extended reality helps localize vessels during EC-IC bypass for moyamoya disease or chronic cerebral ischemia.

  Recruiting National Taiwan University Hospital · Taipei · NCT07711457

About this research

1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
3. For full project details, budget, and progress reports, visit the official NIH RePORTER page.