# BRITTLE BONE DISORDERS CONSORTIUM OF THE RARE DISEASE CLINICAL RESEARCH NETWORK

> **NIH NIH U54** · BAYLOR COLLEGE OF MEDICINE · 2022 · $323,774

## Abstract

PROJECT SUMMARY (OVERALL)
This is a renewal application to continue the Brittle Bone Disorders Consortium of the Rare Diseases
Clinical Research Network (BBDC RDCRN) for years 6-10. The BBDC is focused on rare bone diseases
that are caused by defects in osteoblast differentiation and/or function which leads to qualitative and/or
quantitative defects of bone, altered biomaterial properties such as mineralization, and/or downstream cellular
changes in osteocytes and osteoclasts. These are represented by the different types of Osteogenesis
Imperfecta (OI). While OI is often used interchangeably with BBD, the phenotypic spectrum is rapidly
expanding. Moreover, there is a significant unmet need to understand the natural history of these phenotypes
stratified by their molecular genetic etiologies. How these different mutations ultimately lead to brittle bone
remains unknown and what are appropriate interventions and biomarkers of various disease morbidities are
open questions. In years 1-5 of the BBDC, we met or exceeded accrual targets in 6 out of 7 protocols. We
have published or have under review 12 manuscripts describing our cross sectional data. Importantly, our
findings in the previous longitudinal study, pregnancy study, craniofacial study, pilot collagen crosslink
biomarker study, and the PROMIS pilot study have empowered the design and inclusion of new elements in
the current longitudinal study (Project 1), orthodontic clinical trial to treat malocclusion in OI (Project 2), and
longitudinal biomarker study of growth (Project 3). This BBDC will be composed of 12 clinical sites covering
the U.S. and Canada. The Specific Aims of the BBDC are: i) To perform collaborative clinical research in
brittle bone disorders including the three clinical projects listed above; ii) To train and attract a cohort of
investigators in clinical bone research who will be recruited from undergraduate, post-baccalaureate, graduate,
medical student, resident/fellow, and junior faculty ranks; and iii) to collaborate with the Osteogenesis
Imperfecta Foundation (OIF) to expand a tool box of training materials that can be used to broadly educate
patients, families, and healthcare provider across a broad spectrum of expertise.

## Key facts

- **NIH application ID:** 10515367
- **Project number:** 3U54AR068069-08S2
- **Recipient organization:** BAYLOR COLLEGE OF MEDICINE
- **Principal Investigator:** Brendan Lee
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $323,774
- **Award type:** 3
- **Project period:** 2014-08-06 → 2024-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10515367

## Citation

> US National Institutes of Health, RePORTER application 10515367, BRITTLE BONE DISORDERS CONSORTIUM OF THE RARE DISEASE CLINICAL RESEARCH NETWORK (3U54AR068069-08S2). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10515367. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*