This is a prospective observational study of clinical and patient-provided outcomes for individuals with sex chromosome aneuploidy (SCA) conditions throughout the lifespan: the GALAXY Registry.

The overarching aim of the GALAXY Registry is to establish a multicenter, longitudinal, data and biospecimen repository that will ultimately lead to improved outcomes in individuals with SCAs, including Klinefelter (XXY), Trisomy X (XXX), and XYY, as well as rarer tetrasomy and pentasomy conditions. These conditions are also known as X&Y chromosome variations or simply X&Y variations. Historically, SCAs have been underdiagnosed and understudied. Most research to date is conducted in single centers, is focused on a limited age and/or specialty and has minimal longitudinal follow up.

To address these limitations, advance care, and improve outcomes for SCAs, this project will establish a large, nationally representative, diverse cohort of individuals with SCA utilizing the infrastructure of a collaborative network of centers (AXYS Clinical and Research Consortium) and a unified, sustainable, and centralized data and biospecimen repository.

In the first five years of the project the aims will be to: Aim 1 (a) Establish a multicenter clinical research registry database utilizing common data elements and a centralized, HIPAA-compliant platform for individuals with SCAs and (b) Establish a specimen biorepository (biobank) with plasma, serum, DNA, RNA and tissue samples for individuals with SCAs with corresponding clinical phenotyping. Aim 2 (a) Quantify global morbidity outcomes (number of chronic illnesses, number of medications) and healthcare utilization (number of outpatient visits/year, emergency room visits, hospitalizations, surgeries) in a large cohort of individuals with SCAs across the lifespan and in specific SCA conditions (b) Quantify the prevalence of medical and psychological comorbidities in this cohort and identify explanatory variables. In addition to these aims, the GALAXY Registry will support quality improvement initiatives and future research proposals by establishing baseline outcome statistics, generating preliminary data, maintaining a coordinated biobank, and serving as a resource pool of potential participants.

Beyond the five-year timeframe, aims will focus on practices and interventions that will improve the baseline findings identified in Aims 1 and 2 above. New aims will be developed as the project advances.