Investigating JAK inhibition for skin diseases in individuals with Down syndrome
Official title: Use of specific JAK inhibition on inflammatory skin and scalp diseases in Down syndrome
Funded at Icahn School of Medicine at Mount Sinai · NIH-11131253 · Data updated 2026-11-12
This study is looking at how a new type of medicine called JAK inhibitors can help people with Down syndrome who have skin issues like eczema and hair loss, aiming to find a safer and more effective treatment than what’s usually available.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | July 3, 2024 |
| Project end | April 30, 2026 |
| Funding year | 2025 |
| Award (this year) | $409,397 |
| NIH project number | 5R61AR084210-02 |
| Project ID | NIH-11131253 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with Down syndrome who are experiencing inflammatory skin conditions.
✕Less likely to help
Patients without Down syndrome or those not suffering from inflammatory skin diseases may not benefit from this research.
What this research studies
This research focuses on the use of JAK inhibitors to treat inflammatory skin conditions commonly seen in individuals with Down syndrome, such as atopic dermatitis and alopecia areata. The study aims to explore how these medications can reduce inflammation caused by the overactive JAK/STAT signaling pathway, which is prevalent in this population. By utilizing a targeted approach, the research seeks to provide a safer and more effective treatment option compared to traditional immunosuppressive therapies, which often come with significant side effects. Patients will be monitored for safety and efficacy throughout the treatment period.
Why it matters
Potential benefit: If successful, this research could lead to improved management of inflammatory skin diseases in individuals with Down syndrome, enhancing their quality of life.
How similar studies have gone: Previous studies have shown promising results with JAK inhibitors in treating similar inflammatory conditions, indicating a potential for success in this novel application.
Where this research is happening
-
Icahn School of Medicine at Mount Sinai
New York, United States Active
Researchers
- Principal investigator: Guttman, Emma — Icahn School of Medicine at Mount Sinai
- Study coordinator: Guttman, Emma
Related research
Other NIH-funded projects on the same topics.
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Executive Function Enhancement for Young Children with Down Syndrome
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-
Silencing an Extra Chromosome to Help Down Syndrome and Related Conditions
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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.