Inspiring New Science In Guiding Healthcare in Turner Syndrome Registry (INSIGHTS)

April 4, 2024 updated by: University of Colorado, Denver

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

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.

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

  • United States
    • Colorado
      • Aurora, Colorado, United States, 80045
    • District of Columbia
      • Washington, District of Columbia, United States, 20010
    • Illinois
    • Kansas
      • Lawrence, Kansas, United States, 66045
        • Recruiting
        • University of Kansas
        • Contact:
    • North Carolina
      • Chapel Hill, North Carolina, United States, 27514
        • Recruiting
        • UNC Hospitals Children's Specialty Clinic
        • Contact:
    • Ohio
      • Cincinnati, Ohio, United States, 45229
        • Recruiting
        • Cincinnati Children's Hospital Medical Center
        • Contact:
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Recruiting
        • Children's Hospital of Philadelphia
        • Contact:
    • Texas
      • Houston, Texas, United States, 77030
    • Washington

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

No

Sampling Method

Non-Probability Sample

Study Population

The study population for this registry is patients diagnosed with Turner syndrome who are seen at a participating clinic.

Description

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

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

  • Observational Models: Other
  • Time Perspectives: Prospective

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
Prevalence of premature ovarian insufficiency
Time Frame: From study start until condition observed, up to 15 years
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
Prevalence of hearing loss
Time Frame: From study start until condition observed, up to 15 years
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
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 fatty liver disease
Time Frame: From study start until condition observed, up to 15 years

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
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

Collaborators and Investigators

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

Sponsor

University of Colorado, Denver

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)

May 20, 2020

Primary Completion (Estimated)

October 1, 2025

Study Completion (Estimated)

October 1, 2025

Study Registration Dates

First Submitted

August 20, 2021

First Submitted That Met QC Criteria

September 13, 2021

First Posted (Actual)

September 22, 2021

Study Record Updates

Last Update Posted (Actual)

April 5, 2024

Last Update Submitted That Met QC Criteria

April 4, 2024

Last Verified

April 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 19-3027

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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