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Trial record 2 of 2 for:    New Insights | Turner Syndrome | United States
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Inspiring New Science In Guiding Healthcare in Turner Syndrome Registry (INSIGHTS)

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ClinicalTrials.gov Identifier: NCT05052606
Recruitment Status : Recruiting
First Posted : September 22, 2021
Last Update Posted : April 5, 2024
Sponsor:
Information provided by (Responsible Party):
University of Colorado, Denver

Study Description
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Brief 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.

Condition or disease Intervention/treatment
Turner Syndrome Other: No intervention

Study Design
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Study Type : Observational [Patient Registry]
Estimated Enrollment : 5000 participants
Observational Model: Other
Time Perspective: Prospective
Target Follow-Up Duration: 20 Years
Official Title: INSIGHTS Registry - Inspiring New Science In Guiding Healthcare in Turner Syndrome
Actual Study Start Date : May 20, 2020
Estimated Primary Completion Date : October 2025
Estimated Study Completion Date : October 2025

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Turner Syndrome

Groups and Cohorts
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Intervention Details:
  • Other: No intervention
    This study is an observational study without treatment intervention.

Outcome Measures
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Primary Outcome Measures :
  1. Health conditions [ Time Frame: From study start until condition observed, up to 15 years ]
    Average number of chronic diagnoses per person


Secondary Outcome Measures :
  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. 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.

  3. 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.

  4. 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

  5. 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

  6. 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

  7. 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


Biospecimen Retention:   Samples With DNA
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.

Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   Female
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.
Criteria

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

Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05052606


Contacts
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Contact: Shanlee M Davis, MD, PhD 720-777-6073 shanlee.davis@childrenscolorado.org

Locations
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United States, Colorado
Children's Hospital Colorado Recruiting
Aurora, Colorado, United States, 80045
Contact: Shanle M Davis, MD, PhD    720-777-6073    shanlee.davis@childrenscolorado.org   
United States, District of Columbia
Children's National Recruiting
Washington, District of Columbia, United States, 20010
Contact: Roopa Shankar, MD       roopakshankar@gwu.edu   
United States, Illinois
Lurie Children's Recruiting
Glenview, Illinois, United States, 60026
Contact: Wendy J Brickman, MD       wbrickman@luriechildrens.org   
United States, Kansas
University of Kansas Recruiting
Lawrence, Kansas, United States, 66045
Contact: Kelsie Kelly, MD       kkelly3@kumc.edu   
United States, North Carolina
UNC Hospitals Children's Specialty Clinic Recruiting
Chapel Hill, North Carolina, United States, 27514
Contact: Jennifer Law, MD, MSCR       lawj@med.unc.edu   
United States, Ohio
Cincinnati Children's Hospital Medical Center Recruiting
Cincinnati, Ohio, United States, 45229
Contact: Iris Gutmark-Little, MD       iris.little@cchmc.org   
United States, Pennsylvania
Children's Hospital of Philadelphia Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Vaneeta Bamba, MD       bamba@email.chop.edu   
United States, Texas
The University of Texas Health Science Center at Houston Recruiting
Houston, Texas, United States, 77030
Contact: Siddharth K Prakash, MD       siddharth.k.prakash@uth.tmc.edu   
United States, Washington
Seattle Children's Recruiting
Seattle, Washington, United States, 98105
Contact: Luciana T Young, MD       luciana.young@seattlechildrens.org   
Sponsors and Collaborators
University of Colorado, Denver
Investigators
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Principal Investigator: Shanlee M Davis, MD, PhD Children's Hospital Colorado
More Information
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Responsible Party: University of Colorado, Denver
ClinicalTrials.gov Identifier: NCT05052606    
Other Study ID Numbers: 19-3027
First Posted: September 22, 2021    Key Record Dates
Last Update Posted: April 5, 2024
Last Verified: April 2024

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Turner Syndrome
Gonadal Dysgenesis
Syndrome
Disease
Pathologic Processes
Disorders of Sex Development
Urogenital Abnormalities
Female Urogenital Diseases
Female Urogenital Diseases and Pregnancy Complications
Urogenital Diseases
Sex Chromosome Disorders of Sex Development
 Male Urogenital Diseases
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Congenital Abnormalities
Sex Chromosome Disorders
Chromosome Disorders
Genetic Diseases, Inborn
Gonadal Disorders
Endocrine System Diseases