Improving research and care for rare diseases in children
Official title: Data Management and Coordinating Center: Rare Diseases Clinical Research Network
Funded at Cincinnati Childrens Hosp Med Ctr · NIH-10664853 · Data updated 2026-11-12
This study is all about helping kids with rare diseases by making it easier to understand, diagnose, and treat these conditions, so we can improve their care and outcomes.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cincinnati Childrens Hosp Med Ctr NIH-funded |
| Lab location | 1 site (Cincinnati, United States) |
| Project start | August 5, 2019 |
| Project end | June 30, 2025 |
| Funding year | 2023 |
| Award (this year) | $5,436,227 |
| NIH project number | 5U2CTR002818-05 |
| Project ID | NIH-10664853 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children aged 0-21 who are diagnosed with rare diseases.
✕Less likely to help
Patients with common diseases or those outside the age range of 0-21 may not benefit from this research.
What this research studies
This research focuses on enhancing the understanding and management of rare diseases that affect children. It aims to address challenges such as insufficient knowledge about these diseases, difficulties in diagnosis, and the need for better treatment options. By coordinating data management and providing statistical and epidemiological expertise, the project seeks to improve clinical trial readiness and facilitate research participation. The goal is to create a more effective framework for studying rare diseases and ultimately improving patient outcomes.
Why it matters
Potential benefit: If successful, this research could lead to better diagnosis, management, and treatment options for children with rare diseases.
How similar studies have gone: Previous research initiatives focused on rare diseases have shown promise in improving patient outcomes and advancing treatment options.
Where this research is happening
-
Cincinnati Childrens Hosp Med Ctr
Cincinnati, United States Active
Researchers
- Principal investigator: Macaluso, Maurizio — Cincinnati Childrens Hosp Med Ctr
- Study coordinator: Macaluso, Maurizio
Related research
Other NIH-funded projects on the same topics.
-
Liver pathobiology from rare liver diseases
A study at UCSF looks at why rare liver conditions cause liver damage, with the aim of finding new ways to diagnose and treat chronic liver disease.
-
Data Management and Coordinating Center support for Rare Diseases Research
A national rare diseases research program is funding a center to manage data and coordinate studies to help improve diagnosis, care, and potential treatments for children with rare conditions.
-
EEG-based drug repurposing for rare CNS diseases
A new approach uses EEG brain signatures to find existing drugs that might help people with rare nervous-system disorders.
-
Ethics of Engaging Patient Groups in Drug Development for Rare Diseases
This grant asks how patient and family groups can ethically help shape rare-disease drug development from idea to market, with input from patients, families, doctors, and researchers.
-
Center for Polyamine Disorders group study of rare metabolic disorders
A research consortium is studying a group of rare metabolic disorders linked to polyamines and aims to understand symptoms, biomarkers, and disease progression to improve care.
-
Encore: speeding up finding new uses for existing drugs to help kids with rare diseases
A big NIH project will test thousands of existing medicines to see if any can help treat rare genetic diseases in children.
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.