Grant number: U54 HD121580-01

Principal Investigator: Nicole Tartaglia, MD

Lead Institution: Children's Hospital Colorado Anschutz Medical Campus

Diseases Studied

• Non-mosaic Turner syndrome (TS)
• TS due to structural X chromosome abnormalities (rings, deletions, isochromosomes, translocations) with or without 45,X mosaicism
• Mosaic TS 45,X/46,XX;6
• Monosomy X with Y mosaicism; Mixed gonadal dysgenesis; TS with Y material (structurally normal or abnormal Y)
• Trisomy X; Triple X; XXX; Triplo-X syndrome
• Non-mosaic Klinefelter syndrome
• Mosaic Klinefelter syndrome 46,XY/47,XXY 1 in 5,000 males11 33,000 11,500 NA
• XXYY syndrome
• XXXY syndrome
• XYY syndrome
• XYYY syndrome, Triple Y syndrome
• Tetrasomy X; Tetra-X 54
• Pentasomy X; Penta-X
• XXXXY syndrome; 49’ers
• XXXYY syndrome
• XYYYY syndrome
• XXYYY syndrome
• Other SCA mosaicism

Funding Opportunity

The Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR) Pilot-Feasibility Core is excited to announce its inaugural call for pilot grant proposals to address unmet needs in sex chromosome aneuploidy (SCA) clinical research.

NASCARR is a national clinical research consortium dedicated to advancing medical research and clinical trial readiness in SCA conditions through collaboration, study enrollment and data sharing. The Pilot-Feasibility Core is designed to catalyze innovative, translational research with clear potential to inform and enable future clinical trials for one or more SCA populations.

This funding opportunity seeks proposals that generate novel data and approaches to accelerate SCA clinical trial readiness, including but not limited to:

• Biomarker discovery for phenotypes associated with morbidity/mortality in SCA conditions
• Development or validation of data collection tools and salient outcome measures for SCA conditions
• Evaluation of diagnostic or therapeutic approaches in SCA, including novel interventions, applications validated in other populations, and repurposed drugs

Funding Statement

The Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR) is part of the Rare Diseases Clinical Research Network (RDCRN), which is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Division of Rare Diseases Research Innovation (DRDRI). NASCARR is funded under grant number U54HD121580 as a collaboration between NCATS, the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and the National Human Genome Research Institute (NHGRI). This website is hosted by the network’s Data Management and Coordinating Center at Cincinnati Children’s Hospital Medical Center, which is funded by NCATS and the National Institute of Neurological Disorders and Stroke (NINDS) under grant number TR002818.