Generating Advancements Through Longitudinal Analysis in X and Y Variations (GALAXY) (GALAXY)

Generating Advancements Through Longitudinal Analysis in X and Y Variations

GALAXY is a registry research study that plans to learn more about individuals with X&Y variations (also called sex chromosome aneuploidies) through collecting information from medical records.This includes genetic tests, imaging, medications, and more for hundreds of patients seen at a number of clinics across the US. The purpose of the GALAXY Registry is to collect and store this information with the overall goal to improve health outcomes in individuals with X&Y variations and the care they receive.

Study Overview

• Status: Recruiting
• Conditions: Sex Chromosome Aneuploidy
• Intervention / Treatment: Other: no intervention

• Study Type: Observational
• Enrollment (Estimated): 5000

Contacts and Locations

• Study Contact: Name: Shanlee M Davis, MD, PhD; Phone Number: 720-777-6073; Email: shanlee.davis@childrenscolorado.org

Study Locations

• United States
  • Colorado
    • Aurora, Colorado, United States, 80045
      • Recruiting
      • Children's Hospital Colorado
      • Contact: Shanlee M Davis, MD, PhD; Phone Number: 720-777-6073; Email: shanlee.davis@childrenscolorado.org

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

The study population for this registry is patients diagnosed with sex chromosome aneuploidy (SCA) conditions throughout the lifespan.

Description

Inclusion Criteria:

1. Genetically-confirmed diagnosis of a sex chromosome aneuploidy condition
2. Any age
3. Any gender
4. Informed consent for individuals >18 years of age, parent/guardian permission for individuals <18 or proxy-consent from legally authorized representative if impaired decision making

Exclusion Criteria:

a. Lack of documentation of genetic testing confirming SCA diagnosis

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Health Conditions	Average number of chronic diagnoses per person	From study start until condition observed, up to 15 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Prevalence of mental health diagnoses	Prevalence of mental health diagnoses is defined as the number of participants in the sample diagnosed with a mental health disorder by a clinician according to their medical record out of the total sample. This will be determined by a diagnosis of any of the following in a clinical encounter, problem list, and/or past medical history: Depression; Anxiety; Mood disorder NOS; Psychotic disorder; Attention-deficit/hyperactivity disorder (ADHD); Autistic disorder	From study start until condition observed, up to 15 years
Cardiometabolic diagnoses - prevalence of obesity	Prevalence of obesity is defined as the number of participants in the sample with obesity in their medical record out of the total sample. Obesity in pediatric populations is determined using BMI-for-age and obesity in adult populations is determined using BMI. BMI is calculated as the weight in kilograms divided by the height in meters squared. Participants will be considered to have obesity if: There is a diagnosis of obesity in the medical record in a clinical encounter, problem list, and/or past medical history; For children 17 years and younger: there is an available growth chart/height/weight/other data necessary to calculate the BMI-for-age and the BMI-for-age is at or above the 95th percentile; For adults 18 years and older: there is a BMI at or above 30 kg/m2 or the data necessary to calculate BMI and it is at or above 30 kg/m2	From study start until condition observed, up to 15 years
Cardiometabolic diagnoses - prevalence of dyslipidemia	Prevalence of metabolic syndrome is defined as the number of participants in the sample with dyslipidemia in their medical record out of the total sample. Dyslipidemia will be defined as: Diagnosis of dyslipidemia, hypertriglyceridemia, hypercholesterolemia in a clinical encounter, problem list, and/or past medical history; Laboratory evidence of elevated total cholesterol, LDL, triglycerides, and/or low HDL for sex and age	From study start until condition observed, up to 15 years
Cardiometabolic diagnoses-prevalence of hypertension	Prevalence of hypertension is defined as the number of participants in the sample with evidence of hypertension in their medical record out of the total sample. Evidence of hypertension includes: Formal diagnosis of hypertension in a clinical encounter, problem list, and/or past medical history; For children under 13 years old: a blood pressure reading at or above the 95th percentile for age, height, and sex; For children between 13 and 17 years old: a blood pressure reading at or above 130/80 mmHg; For adults 18 years or older: a blood pressure reading at or above 140/90 mmHg	From study start until condition observed, up to 15 years
Autoimmune diagnoses - prevalence of hypothyroidism and of hyperthyroidism	Prevalence of hypothyroidism is defined as the number of participants in the sample with evidence of hypertension in their medical record out of the total sample.	From study start until condition observed, up to 15 years
Autoimmune diagnoses - prevalence of diabetes	Prevalence of diabetes is defined as the number of participants in the sample with evidence of hypertension in their medical record out of the total sample. Both type 1 and type 2 are included.	From study start until condition observed, up to 15 years

Collaborators and Investigators

• Sponsor: University of Colorado, Denver
• Collaborators: Children's Hospital Colorado
• Investigators: Principal Investigator: Shanlee M Davis, MD, PhD, Children's Hospital Colorado

Study record dates

Study Major Dates

• Study Start (Actual): April 28, 2022
• Primary Completion (Estimated): April 1, 2037
• Study Completion (Estimated): April 1, 2037

Study Registration Dates

• First Submitted: April 15, 2024
• First Submitted That Met QC Criteria: April 15, 2024
• First Posted (Actual): April 18, 2024

Study Record Updates

• Last Update Posted (Actual): April 18, 2024
• Last Update Submitted That Met QC Criteria: April 15, 2024
• Last Verified: April 1, 2024

More Information

Terms related to this study

• Keywords: XXY; Klinefelter; XXX; XYY; trisomy; X&Y variations; chromosome variations; tetrasomy; pentasomy
• Additional Relevant MeSH Terms: Pathologic Processes; Chromosome Aberrations; Aneuploidy
• Other Study ID Numbers: 20-0482

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No