Neurodiagnostic and Omics Study of Down Syndrome Regression Disorder
Official title: Neurodiagnostic, Proteomic, and Metabolomic Investigations into Down Syndrome Regression Disorder
Funded at Children's Hospital of Los Angeles · NIH-11378600 · Data updated 2026-11-12
A five-year study will look at brain signals, proteins, and immune markers to understand why some people with Down syndrome develop sudden neuropsychiatric symptoms.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hospital of Los Angeles NIH-funded |
| Lab location | 1 site (Los Angeles, United States) |
| Project start | August 1, 2025 |
| Project end | May 31, 2030 |
| Funding year | 2026 |
| Award (this year) | $676,953 |
| NIH project number | 5R01HD119010-02 |
| Project ID | NIH-11378600 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with Down syndrome experiencing regression symptoms and individuals with Down syndrome without regression.
✕Less likely to help
Patients without Down syndrome or without regression symptoms may not benefit directly from this study.
What this research studies
This project will collect EEGs, brain MRI, transcranial Doppler, and lumbar punctures from people with Down syndrome who have regression symptoms and compare them to those without regression. It will also analyze blood and cerebrospinal fluid to profile immune and inflammatory signals and identify potential biomarkers. The goal is to see how neuroinflammation and blood-brain barrier changes relate to symptoms and response to immune-based treatments. The findings could guide earlier diagnosis and personalized therapies for Down syndrome regression disorder.
Why it matters
Potential benefit: If successful, results could lead to better diagnosis and targeted treatments for Down syndrome regression disorder.
How similar studies have gone: Preliminary data suggest neuroinflammation and biomarker differences in regression disorder, with some signal that immunotherapy helps some patients.
Where this research is happening
-
Children's Hospital of Los Angeles
Los Angeles, United States Active
Researchers
- Principal investigator: Santoro, Jonathan Douglas — Children's Hospital of Los Angeles
- Study coordinator: Santoro, Jonathan Douglas
Related research
Other NIH-funded projects on the same topics.
-
Exploring how Down syndrome affects optic nerve health in kids
A study using a mouse model to understand why optic nerve problems are common in children with Down syndrome and how to prevent them.
-
Executive Function Enhancement for Young Children with Down Syndrome
A caregiver-guided program for kids with Down syndrome aged up to 11 to strengthen their thinking skills during early childhood.
-
Silencing an Extra Chromosome to Help Down Syndrome and Related Conditions
A patient-friendly plan to use a gene-based approach to quiet an extra chromosome in cells and a mouse model to reduce disease-related effects in Down syndrome and other chromosomal imbalance disorders.
-
Infant Down Syndrome Brain and Behavior Study
A study of infants with Down syndrome to collect brain imaging and developmental data, creating a large, shared resource to understand how autism and other factors relate to development.
-
DS-ARC: Smartphone-based cognitive check for people with Down syndrome at risk for Alzheimer’s
A smartphone-based cognitive test is being developed and tested for people with Down syndrome who may develop Alzheimer’s disease, to track changes quietly in daily life.
-
Immune and NGF factors in Alzheimer’s for adults with Down syndrome
This grant studies why people with Down syndrome develop Alzheimer’s disease by looking at immune signals and nerve growth factor problems.
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.