NCT06325618

Brief Summary

100 women with karyotype verified TS, previously examined at 4 study visits during a 19-year period will be asked to participate in a 5th study visit. Healthy age-matched females will be included as controls in a ratio 2:1. The aim is to examine and quantify the cardiovascular and lymphatic system in women with TS. The investigators will study a possible causal mechanism between the known pathologic phenotype and alterations in these systems to understand, prevent or treat the life-threatening complications in TS.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
150

participants targeted

Target at P50-P75 for all trials

Timeline
15mo left

Started Jan 2024

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress65%
Jan 2024Aug 2027

Study Start

First participant enrolled

January 8, 2024

Completed
1 month until next milestone

First Submitted

Initial submission to the registry

February 20, 2024

Completed
1 month until next milestone

First Posted

Study publicly available on registry

March 22, 2024

Completed
3.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

August 1, 2027

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

August 1, 2027

Last Updated

March 22, 2024

Status Verified

January 1, 2024

Enrollment Period

3.6 years

First QC Date

February 20, 2024

Last Update Submit

March 15, 2024

Conditions

Turner SyndromeCardiovascular DiseasesLymphedemaInflammation

Outcome Measures

Primary Outcomes (3)

  • Grade dysfunction of clinical and subclinical lymphedema using Indocyanine Green Lymphography and Magnetic Resonance Lymphangiography.

    Lymphedema will be graded in a total score according to the International Society of Lymphology. The stages are: Stage 0: Subclinical lymphedema. • Stage 1: Early, reversible pitting edema. Stage 2: Irreversible lymphedema. Stage 3: End-stage lymphedema.

    3 year

  • Detecting low-grade inflammation in Turner Syndrome preforming FDG-PET/CT-scans to locate low grade inflammation.

    3 years

  • Heat maps of the distribution of wall shear stress in the aorta

    Using 4D-flow analyses heat maps of the aorta will be made to illustrate the distribution of wall shear stress.

    3 years

Secondary Outcomes (5)

  • MRI evaluation and description of vascular abnormalities in Turner Syndrome

    3 years

  • Cardiac MRI to evaluate function

    3 years

  • Cardiac MRI to evaluate fibrosis of the myocardium

    3 years

  • Mapping DNA-methylations patterns in multiple tissues

    3 years

  • Immunologic changes in Turner Syndrome

    3 years

Study Arms (2)

Turner Syndrome

Women with karyotype verified Turner Syndrome n=100

Other: No intervention other than obtaining biopsiesDrug: Indocyanine green (ICG)

Female controls

Healthy, age-matched controls n=50

Other: No intervention other than obtaining biopsiesDrug: Indocyanine green (ICG)

Interventions

No intervention other than obtaining biopsiesOTHER

Skin, fat, and muscle biopsies will be obtained

Female controlsTurner Syndrome
Indocyanine green (ICG)DRUG

Indocyanine green will be injected to evaluate the lymphatic system.

Female controlsTurner Syndrome

Eligibility Criteria

Age18 Years - 100 Years
Sexfemale
Healthy VolunteersYes
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

Danish women.

You may qualify if:

  • Turner Syndrome

You may not qualify if:

  • pregnancy
  • contraindications for MRI

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Aarhus University Hospital

Aarhus N, 8200, Denmark

RECRUITING

Related Publications (6)

  • Mortensen KH, Andersen NH, Gravholt CH. Cardiovascular phenotype in Turner syndrome--integrating cardiology, genetics, and endocrinology. Endocr Rev. 2012 Oct;33(5):677-714. doi: 10.1210/er.2011-1059. Epub 2012 Jun 15.

    PMID: 22707402BACKGROUND

  • Hjerrild BE, Mortensen KH, Sorensen KE, Pedersen EM, Andersen NH, Lundorf E, Hansen KW, Horlyck A, Hager A, Christiansen JS, Gravholt CH. Thoracic aortopathy in Turner syndrome and the influence of bicuspid aortic valves and blood pressure: a CMR study. J Cardiovasc Magn Reson. 2010 Mar 11;12(1):12. doi: 10.1186/1532-429X-12-12.

    PMID: 20222980BACKGROUND

  • Executive Committee. The Diagnosis and Treatment of Peripheral Lymphedema: 2016 Consensus Document of the International Society of Lymphology. Lymphology. 2016 Dec;49(4):170-84.

    PMID: 29908550BACKGROUND

  • Yu DX, Ma XX, Zhang XM, Wang Q, Li CF. Morphological features and clinical feasibility of thoracic duct: detection with nonenhanced magnetic resonance imaging at 3.0 T. J Magn Reson Imaging. 2010 Jul;32(1):94-100. doi: 10.1002/jmri.22128.

    PMID: 20578016BACKGROUND

  • Unno N, Nishiyama M, Suzuki M, Yamamoto N, Inuzuka K, Sagara D, Tanaka H, Konno H. Quantitative lymph imaging for assessment of lymph function using indocyanine green fluorescence lymphography. Eur J Vasc Endovasc Surg. 2008 Aug;36(2):230-236. doi: 10.1016/j.ejvs.2008.04.013. Epub 2008 Jun 4.

    PMID: 18534875BACKGROUND

  • Mohanakumar S, Telinius N, Kelly B, Lauridsen H, Boedtkjer D, Pedersen M, de Leval M, Hjortdal V. Morphology and Function of the Lymphatic Vasculature in Patients With a Fontan Circulation. Circ Cardiovasc Imaging. 2019 Apr;12(4):e008074. doi: 10.1161/CIRCIMAGING.118.008074.

    PMID: 30943769BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Biopsies from skin, muscle, fat, urine, buccal swaps and blood will be analysed for DNA and RNA

MeSH Terms

Conditions

Turner SyndromeCardiovascular DiseasesLymphedemaInflammation

Interventions

Indocyanine Green

Condition Hierarchy (Ancestors)

Gonadal DysgenesisDisorders of Sex DevelopmentUrogenital AbnormalitiesFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesSex Chromosome Disorders of Sex DevelopmentMale Urogenital DiseasesHeart Defects, CongenitalCardiovascular AbnormalitiesHeart DiseasesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSex Chromosome DisordersChromosome DisordersGenetic Diseases, InbornGonadal DisordersEndocrine System DiseasesLymphatic DiseasesHemic and Lymphatic DiseasesPathologic ProcessesPathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

IndolesHeterocyclic Compounds, 2-RingHeterocyclic Compounds, Fused-RingHeterocyclic Compounds

Central Study Contacts

Line Balsby, MD

CONTACT

+4520461203libals@clin.au.dk

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

February 20, 2024

First Posted

March 22, 2024

Study Start

January 8, 2024

Primary Completion (Estimated)

August 1, 2027

Study Completion (Estimated)

August 1, 2027

Last Updated

March 22, 2024

Record last verified: 2024-01

Data Sharing

IPD Sharing
Will not share

Locations

DK(1)