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NCT Number: NCT06373861

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

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.

Recruiting

Interested in participating?

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Key information

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Genetically-confirmed diagnosis of a sex chromosome aneuploidy condition
  • Any age
  • Any gender
  • 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

Treatment and study plan

No intervention

Other

This study is an observational study without treatment intervention.

Primary outcomes

  1. Health Conditions

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

    Average number of chronic diagnoses per person

Secondary outcomes

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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.

  6. 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.

Study contacts

Contact information is provided by the study sponsor or research team.

Shanlee M Davis, MD, PhD

CONTACT

[email protected]

720-777-6073

Sponsors and collaborators

Lead sponsor

University of Colorado, Denver

Other

Collaborators

  • Children's Hospital Colorado

Registry information

Official study title

Generating Advancements Through Longitudinal Analysis in X and Y Variations

Acronym: GALAXY

Important dates

Study start
2022
Primary completion
2037
Study completion
2037
First posted
Apr 18, 2024
Registry last updated
Apr 18, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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