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

April 15, 2024 updated by: University of Colorado, Denver

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

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

5000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

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

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Health Conditions
Time Frame: From study start until condition observed, up to 15 years
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
Time Frame: From study start until condition observed, up to 15 years

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
Time Frame: From study start until condition observed, up to 15 years

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
Time Frame: From study start until condition observed, up to 15 years

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
Time Frame: From study start until condition observed, up to 15 years

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
Time Frame: From study start until condition observed, up to 15 years
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
Time Frame: From study start until condition observed, up to 15 years
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

This is where you will find people and organizations involved with this study.

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

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

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

Additional Relevant MeSH Terms

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

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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