USIDNET patient registry for inherited immune disorders
USIDNET: A resource for clinical immunologists
['FUNDING_OTHER'] · CHILDREN'S HOSP OF PHILADELPHIA · NIH-11175399
This project builds and improves a national registry that collects medical and genetic information from people with inherited immune disorders to help patients and clinicians.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | CHILDREN'S HOSP OF PHILADELPHIA (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-11175399 on ClinicalTrials.gov |
What this research studies
As a patient with an immune disorder, this registry gathers my clinical history, lab results, quality-of-life information, and genetic data into one standardized database. The program links over 5,000 patient records (with genetic data for more than 2,000 people), stores patient cell lines, and provides educational resources for patients and doctors. Data are converted to common medical coding (SNOMED and LOINC) and pulled from participating clinics using semi-automated extraction to keep records consistent and up to date. The registry is guided by community input and aims to improve long-term tracking and genotype–phenotype connections that can support better care and research.
Who could benefit from this research
Good fit: Ideal participants are people with known or suspected inborn errors of immunity (primary immunodeficiencies) who can share clinical records and, where available, genetic test results or biospecimens.
Not a fit: People without immune disorders or those unwilling to share clinical or genetic information are unlikely to gain direct benefit from participating.
Why it matters
Potential benefit: If successful, the registry could speed more accurate diagnoses, guide personalized care, and expand research opportunities for people with inherited immune problems.
How similar studies have performed: Long-running disease registries, including USIDNET itself since 1992, have successfully helped improve diagnosis and research, and this project builds on that established work.
Where this research is happening
PHILADELPHIA, UNITED STATES
- CHILDREN'S HOSP OF PHILADELPHIA — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SULLIVAN, KATHLEEN E — CHILDREN'S HOSP OF PHILADELPHIA
- Study coordinator: SULLIVAN, KATHLEEN E
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.