Clinical Trials Logo

Clinical Trial Summary

This study's investigators previously demonstrated the potential utility of non-invasive carotid ultrasonography to calculate carotid intima media thickness (cIMT) and stiffness (as measured by the three parameters, carotid cross-sectional distensibility [cCSD], carotid cross-sectional compliance [cCSC], and carotid incremental elastic modulus [cIEM]) in people with mucopolysaccharidoses (MPS). Investigators also studied arterial gene expression in animal models of MPS, and identified upregulation of a number of markers potentially tied to atherosclerosis and inflammation. These include the atherosclerotic marker known as Clusterin (CLU), Cathepsin S, Elastin, and the inflammatory cytokines interleukin 1-α, interleukin 1-β, interleukin 2, and interleukin 6. Other studies have identified elevation in circulating tumor necrosis factor-α correlating with pain and physical disability in certain mucopolysaccharidoses. Since these studies are cross sectional, and not longitudinal, this study aims to annually measure these previously studied biomarkers (carotid measurements, circulating cytokines, cathepsin S, elastin, and CLU) in a large cohort of MPS patients. This study is a 3-year, prospective, anonymized, longitudinal assessment of cardiovascular structure, function, and circulating biomarkers in patients with mucopolysaccharidoses.


Clinical Trial Description

Specific Aims 1. Annually assess cardiac and carotid structure and function utilizing ultrasonography, in patients with mucopolysaccharidoses 2. Annually measure circulating levels of clusterin, elastin, cathepsin S, lipids, and cytokines in patients with mucopolysaccharidoses Target enrollment 30 subjects at CHOC Children's Hospital Study Protocol Screening 1. Study Investigators will identify eligible patients to participate in the study from their current patient population and future referrals. 2. Eligible patients will be provided with study information on the study during their standard of care metabolic clinic visit. Informed Consent 1. Informed consent will be obtained following the requirements set forth by 21 CFR 50.25. 2. Patients interested in the study will be provided the informed consent document. The document will be reviewed in a private quiet room and ample time for questions will be provided. The patient can keep a copy of the consent if they wish to discuss the study with friends and family. Consent will only be obtained once the patient has had time to ask questions and is aware that the study is completely voluntary. Initial entry 1. Information regarding age, sex, MPS diagnosis (including genetic mutation and enzymatic levels, if possible) will be obtained 2. Height and weight will be obtained. If patient has had a recent (within 3 months) evaluation at CHOC Children's with height and weight, those parameters may be used 3. Medical records will be obtained specifically focusing upon 1. the genetic and/or enzymatic testing used to confirm the MPS diagnosis 2. the treatment status (treated or not) and duration of treatment (calculated by the difference between date of first carotid imaging and date of first treatment) 4. Carotid ultrasonography will be obtained 1. Study takes 10 - 15 minutes to complete 2. Subject will be asked to lay still and quietly during procedure 3. Blood pressure and heart rate will be obtained during the study 4. Results will be digitized and stored on CD 5. Echocardiography will be obtained 1. Study takes 15 - 20 minutes to complete 2. Subject will be asked to lay still and quietly during procedure 3. Results will be digitized and stored on CD 6. Venipuncture / phlebotomy 1. 10 mL of blood total will be drawn (5 mL in a blue top citrate tube, 5 mL in a purple top EDTA tube). Measurements of cytokines, clusterin, lipidomics, cathepsin S protease, and elastin (previously identified potential biomarker candidates) will be performed. 2. Blood will preferably be drawn via venipuncture, but if patient has a port-a-cath already implanted and is having blood drawn via port-a-cath for clinically required reasons, then study-related blood draw via port-a-cath can take place concurrently with clinically required blood draws. Annual studies Procedures 2), 4), 5), and 6) will be repeated on an annual basis for a total of three years ;


Study Design


Related Conditions & MeSH terms


NCT number NCT05063435
Study type Observational
Source Children's Hospital of Orange County
Contact Nina Movsesyan, Ph.D.
Phone (714) 509-3008
Email [email protected]
Status Recruiting
Phase
Start date November 1, 2021
Completion date March 31, 2025

See also
  Status Clinical Trial Phase
Recruiting NCT03995979 - Inflammation and Protein Restriction N/A
Completed NCT03255187 - Effect of Dietary Supplemental Fish Oil in Alleviating Health Hazards Associated With Air Pollution N/A
Completed NCT04507867 - Effect of a NSS to Reduce Complications in Patients With Covid-19 and Comorbidities in Stage III N/A
Completed NCT03577223 - Egg Effects on the Immunomodulatory Properties of HDL N/A
Recruiting NCT05034159 - CBT-I for Sleep, Pain, and Inflammation in Crohn's Disease N/A
Completed NCT04383561 - Relationship Between LRG and Periodontal Disease N/A
Active, not recruiting NCT03622632 - Pilot Study to Measure Uric Acid in Traumatized Patients: Determinants and Prognostic Association
Recruiting NCT04856748 - Nomogram to Diagnose Prostatic Inflammation (PIN) in Men With Lower Urinary Tract Symptoms
Completed NCT03859934 - Metabolic Effects of Melatonin Treatment Phase 1
Completed NCT03429920 - Effect of Fermented Soy Based Product on Cardiometabolic Risk Factors N/A
Completed NCT03318731 - Efficacy and Safety of Fenugreek Extract on Markers of Muscle Damage and Inflammation in Untrained Males N/A
Recruiting NCT03753204 - Salt-Sensitivity and Immunity Cell Activation Phase 1/Phase 2
Not yet recruiting NCT04857931 - Colchicine in HFpEF Phase 3
Not yet recruiting NCT04041765 - IgM-Enriched Immunoglobulin for Neonatal Sepsis Phase 3
Not yet recruiting NCT04110925 - Mutational Analysis as a Prognostic and Predictive Marker of Cardiovascular (CVD) Disease in Patients With Myelodysplasia N/A
Recruiting NCT03682640 - Azithromycin Insulin Diet Intervention Trial in Type 1 Diabetes Phase 2
Recruiting NCT02870764 - The Effect of Dan-shen Extract On Lipoprotein Associated PHospholipase A2 Levels IN Patients With Stable Angina Pectoris Phase 4
Recruiting NCT02998918 - Effects of Short-term Curcumin and Multi-polyphenol Supplementation on the Anti-inflammatory Properties of HDL Phase 2
Active, not recruiting NCT02856269 - Zinc Supplementation and Cardiovascular Risk in HIV N/A
Active, not recruiting NCT03502993 - Personalised Risk Assessment in Febrile Illness to Optimise Real-life Management Across the European Union (PERFORM)