Inspiring New Science In Guiding Healthcare in Turner Syndrome Registry

Turner Syndrome Clinical Trial

— INSIGHTS  

Official title:

INSIGHTS Registry - Inspiring New Science In Guiding Healthcare in Turner Syndrome

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05052606
• Other study ID #: 19-3027
• Status: Recruiting
• Start date: May 20, 2020
• Est. completion date: October 2025

Study information

• Verified date: April 2024
• Source: University of Colorado, Denver
• Contact: Shanlee M Davis, MD, PhD
• Phone: 720-777-6073
• Email: shanlee.davis[@]childrenscolorado.org
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial Summary

INSIGHTS is a registry research study that collects key information on medical history for girls and women with Turner syndrome and the clinical care they receive. This includes genetic tests, imaging, medications, and more for hundreds of patients seen at a number of clinics across the US. In addition to learning a lot about the current state of health for individuals with TS, INSIGHTS serves as an infrastructure to conduct future studies are meaningful to patients and their families.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 5000
• Est. completion date: October 2025
• Est. primary completion date: October 2025
• Accepts healthy volunteers: No
• Gender: Female
• Age group: N/A and older

Eligibility

Inclusion Criteria:

1. Individuals with TS and TS variants as defined by the TS Clinical Practice Guideline definition (karyotype consistent with TS, phenotypic female, clinical feature(s) of TS)

2. Informed consent/assent as appropriate Exclusion Criteria: a. Lack of a TS diagnosis on file

Related Conditions & MeSH terms

• Gonadal Dysgenesis
• Syndrome
• Turner Syndrome

Intervention

Other:
• No intervention
This study is an observational study without treatment intervention.

Locations

Country	Name	City	State
United States	Children's Hospital Colorado	Aurora	Colorado
United States	UNC Hospitals Children's Specialty Clinic	Chapel Hill	North Carolina
United States	Cincinnati Children's Hospital Medical Center	Cincinnati	Ohio
United States	Lurie Children's	Glenview	Illinois
United States	The University of Texas Health Science Center at Houston	Houston	Texas
United States	University of Kansas	Lawrence	Kansas
United States	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania
United States	Seattle Children's	Seattle	Washington
United States	Children's National	Washington	District of Columbia

Sponsors (1)

Lead Sponsor	Collaborator
University of Colorado, Denver

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Health conditions	Average number of chronic diagnoses per person	From study start until condition observed, up to 15 years
Secondary	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
Secondary	Prevalence of premature ovarian insufficiency	Prevalence of premature ovarian insufficiency is defined as the number of participants in the sample with a diagnosis of premature ovarian insufficiency (or failure) in their medical record clinical encounter, problem list, and/or past medical history or laboratory results in their medical record consistent with this diagnosis (elevated FSH or undetectable AMH) out of the total sample.	From study start until condition observed, up to 15 years
Secondary	Prevalence of hearing loss	Prevalence of hearing loss is defined as the number of participants in the sample formally diagnosed with a hearing loss in their medical record in a clinical encounter, problem list, and/or past medical history or an audiology report consistent with hearing impairment out of the total sample.	From study start until condition observed, up to 15 years
Secondary	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
Secondary	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
Secondary	Cardiometabolic diagnoses - prevalence of fatty liver disease	Prevalence of fatty liver disease is defined as the number of participants in the sample with a formal diagnosis of fatty liver disease in their medical record out of the total sample. Fatty liver disease diagnosis in the medical record in a clinical encounter, problem list, and/or past medical history may also present as: Non-alcoholic fatty liver disease (NAFLD); Hepatic steatosis; Simple fatty liver disease; Non-alcoholic steatohepatitis	From study start until condition observed, up to 15 years
Secondary	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