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| Name | Class |
|---|---|
| Children's Hospital Colorado | OTHER |
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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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| no intervention | Other | This study is an observational study without treatment intervention. |
| Measure | Description | Time Frame |
|---|---|---|
| Health Conditions | Average number of chronic diagnoses per person | From study start until condition observed, up to 15 years |
| 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:
|
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Inclusion Criteria:
Exclusion Criteria:
a. Lack of documentation of genetic testing confirming SCA diagnosis
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The study population for this registry is patients diagnosed with sex chromosome aneuploidy (SCA) conditions throughout the lifespan.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Shanlee M Davis, MD, PhD | Contact | 720-777-6073 | shanlee.davis@childrenscolorado.org |
| Name | Affiliation | Role |
|---|---|---|
| Shanlee M Davis, MD, PhD | Children's Hospital Colorado | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Children's Hospital Colorado | Recruiting | Aurora | Colorado | 80045 | United States |
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| ID | Term |
|---|---|
| D007713 | Klinefelter Syndrome |
| D058670 | Tetrasomy |
| D014314 | Trisomy |
| ID | Term |
|---|---|
| D058533 | Sex Chromosome Disorders of Sex Development |
| D012734 | Disorders of Sex Development |
| D014564 | Urogenital Abnormalities |
| D052776 | Female Urogenital Diseases |
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If resources are available and optional consent is provided, a 5-10mL blood sample will be obtained in 1 gold top and 1 purple top (EDTA) tube and processed for storage of plasma, serum, and buffy coat. These specimens will be stored in a biobank with a barcode to link the sample with the patient for future studies involving the assessment of hormones, proteins, metabolites, DNA, RNA, and other studies. Phlebotomy will be combined with clinical phlebotomy whenever possible.
| 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:
| 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:
| 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:
| 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 |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D025064 | Sex Chromosome Disorders |
| D025063 | Chromosome Disorders |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D006058 | Gonadal Disorders |
| D004700 | Endocrine System Diseases |
| D007006 | Hypogonadism |
| D000782 | Aneuploidy |
| D002869 | Chromosome Aberrations |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D058674 | Chromosome Duplication |