Clinical Trials for Marfan Syndrome

Source: ClinicalTrials.gov — U.S. National Library of Medicine — A database of privately and publicly funded clinical studies conducted around the world (U.S. National Library of Medicine, public domain).

This page lists clinical trials related to Marfan Syndrome from the ClinicalTrials.gov database.

Trial Summary

• Total studies: 50
• Recruiting: 9
• Active, not recruiting: 5
• Completed: 21
• Other: 15

Results are refreshed periodically and may not reflect the most current information available from ClinicalTrials.gov.

Recruiting Trials

NCT02050113 — Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices

The purpose of this study is to evaluate the safety and efficacy of custom made devices, Zenith t-Branch devices and physician modification of FDA approved off-the-shelf endovascular grafts in the treatment of patients with complex abdominal aneurysms, aortoiliac aneurysms, thoracoabdominal aneurysms and aortic arch aneurysms who (1) have anatomy not suitable for endovascular repair using graft…

NCT04194619 — Pregnancy in Women With Rare Multisystemic Vascular Diseases: COGRare5 Study

There are no prospective studies of pregnancies for the diseases studied here in (Heredity Hemorrhagic Telangiectasia, Marfan syndrome or related, primary lower limb lymphedema, superficial arteriovenous malformations, and cerebro-spinal arteriovenous malformations) although complications of these can present life-threatening health problems for the mother and her baby.

The purpose of this Nat…

NCT04970459 — Biological Collection for Marfan and Related Syndromes

The present study will establish a collection of biological samples from Marfan patients or with associated diseases to be used for research purposes only, with due respect for confidentiality.

NCT05702476 — Marfan Syndrome (MFS) and Facial Dysmorphism: Non-invasive 3D Assessment

The goal of this study observational prospective study is to define the facial morphological features associated with Marfan syndrome (MFS). The main qustion it aims to answer are:

1. To describe the facial morphological features associated with MFS and their evolution over time;
2. To study the association between facial morphology and the features of reference for the diagnosis of MFS.

NCT05838235 — Adapted Physical Activity Program (APA) for Effort Rehabilitation of Children and Teenagers With Marfan Syndrome

This research study aims to evaluate the effect of a 6-month adapted physical activity program (APA) on the endurance capacities (evaluated as the maximum oxygen consumption [VO2 peak] on a cardiopulmonary exercise test) of children and adolescents with Marfan syndrome or related.

NCT05809323 — Marfan Syndrome Moderate Exercise Trial II

Marfan syndrome (MFS) is a distinctive connective tissue disorder that affects multiple organ systems including the heart, bones, ligaments, and eyes, and is associated with significant risk of aortic dissection. Given limited evidence from in-vitro studies, and theoretical concerns, the majority of patients with MFS are restricted from certain physical activities. The lack of exercise and deco…

NCT06720883 — Robotically Assisted Surgery For Perihilar Cholangiocarcinoma: A Prospective Study

Cholangiocarcinoma (CCA) represents the most common biliary tract malignancy, and the second most common primary hepatic malignancy, accounting for 15% to 20% of primary liver tumours.

Perihilar cholangiocarcinoma (pCCA) involves the biliary confluence with or without involvement of the right and left hepatic ducts. Complete resection with negative histologic margins is the only chance of cure…

NCT06782230 — ScATtEred Rare Disease Biobanks: a Model of Sample/Data Collection With susTainablE and Shared Criteria

Rare diseases (RDs) have been defined by the European Union (EU) as life-threatening or chronically debilitating conditions affecting less than 1 person in 2000. RDs are complex and often need special treatments, thus combined efforts are required to address them to improve diagnosis, care and prevention. To date, over 6.000 RDs are known and most of them are "orphans"…

NCT06546137 — National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil’s Unified Health System Through a Multicenter Registry

The goal of this observational study is to develop a registry of Brazilian patients with hereditary cardiovascular diseases, combining clinical and genomic data. The main questions it aims to answer are:

Which genes are most commonly affected? What is the frequency of these genetic alterations in our population? Participants will be interviewed in routine medical care visits and their DNA will…

Active, Not Recruiting

NCT03440697 — Pathogenetic Basis of Aortopathy and Aortic Valve Disease

The main purpose of this study is to define the complex genetic and pathogenic basis of thoracic aortic aneurysm (TAA) and other forms of aortopathy and/or aortic valve disease by identifying novel disease-causing genes and by identifying important genetic modifiers for aortic and aortic valve disease severity.

NCT05700175 — Transcriptomic Study of Adult Population With Marfan Syndrome

This project is designed to discover circulating biomarkers for aortic aneurysms in adults affected by Marfan Syndrome (MFS). The first aim is to identify circulating transcripts, protein-coding (mRNA) and not (ncRNAs), which show differential expression between three groups of adult patients affected by MFS, based on: presence or absence of thoracic aortic aneurysms (TAA) and indication of TAA…

NCT05748314 — Marfan Syndrome and Quality of Life of Pediatric Patients

The goal of this observational study is to learn about the impact of Marfan syndrome (MFS) in paediatric affected subjects. the main questions it aims to answer are:

• The assessment of quality of life in MFS Italian patients;
• The impact of phenotypic manifestations on self-image and self-management skills;
• Stratify patients according to the need of psychological support. Participants will…

NCT05720923 — Analysis of Muscular Properties in Patients With MFS and EDS

The goal of this observational study is to learn and assess muscle morphological and electromechanical properties in patients affected with Marfan syndrome (MFS) and Ehlers Danlos syndrome (EDS). the main questions it aims to answer are:

• To assess the ability to develop muscle strength;
• Muscle and tendon morphology involved in muscle contractions/relaxation;
• Neuromuscular functionality. …

NCT05389865 — Proximal Aortopathy in Scotland - Epidemiology and Surgical Outcomes

The aorta is the principal arterial vessel arising from the left heart that transfers blood to the body. Certain genetic and familial disease processes are known to weaken the aortic wall resulting in dilation and potential rupture. These aortic complications carry high mortality (>25%) and current management is orientated towards early detection and preventive treatment. Aortic dilation can a…

Not Yet Recruiting

NCT06592560 — Asprosin in Breast Cancer

To evaluate the clinical utility of Asprosin measurement in breast cancer patients in comparison with healthy controls and patients with benign breast lesions.

To compare between Asprosin and the routine markers (CEA, CA15-3) as biomarkers for breast cancer diagnosis

NCT06735313 — Changes in Salivary Asprosin, IL-39, IL-40 and IL-1β Levels in Diabetic Patients with Periodontitis

The aim of this study is to determine the relationships between asprosin, IL-39, IL-40 and IL-1β in saliva between individuals with and without diabetes and between individuals with periodontitis and healthy individuals and to determine the potential roles of these biomarkers that are multiplied in periodontal disease. The study aims to evaluate whether these biomarkers can be used for periodon…

NCT07169669 — Multicentre Longitudinal Study of Bone Mineralisation Characteristics in Marfan Syndrome and Ehlers-Danlos Syndrome

The general objective of this research is to evaluate the characteristics of bone mineralisation in patients with Marfan syndrome or Ehlers-Danlos syndrome on a large case series.

In particular we intend to obtain data regarding the characteristics of bone mineralisation, as well as their variation over time and the relationships existing with other clinical-anamnestic parameters, in patients …

NCT07419386 — Clinical and Psychosocial Factors Associated With Physical Activity Level in Adults With Marfan Syndrome

Background. Marfan syndrome is a genetic connective tissue disorder with cardiovascular and musculoskeletal involvement. Despite clinical advances, many patients exhibit low levels of physical activity, influenced by clinical and psychosocial factors such as fear of exertion, fatigue, or pain. Physical activity behavior in this population remains insufficiently characterized.

Objective. To ass…

NCT07495267 — Nutritional Ketosis Marfan

In this pilot clinical trial, the investigators will test whether a carefully supervised ketogenic diet can safely help people with Marfan syndrome who already have a chronic or residual aortic dissection. Fifteen participants will work with a study coordinator and dietitian to learn how to follow the diet and will have regular guidance and check-ins. The participants will measure their blood k…

NCT07591844 — Effect of Periodontal Therapy on Asprosin in Stable Angina

This study aims to evaluate the effect of non-surgical periodontal therapy on serum asprosin levels in patients with stable angina and periodontitis. Asprosin is a novel metabolic biomarker reported to have potential protective roles in cardiovascular diseases and inflammatory processes. The study also investigates the relationship between periodontal parameters and serum asprosin levels before…

NCT07358533 — Metabolic Obesity in Normal Weight (MONW): Diagnostic Markers Stud

Metabolically Obese Normal Weight (MONW) represents a phenotype affecting individuals with a normal Body Mass Index (BMI) but characterized by excessive adipose tissue accumulation. This condition is associated with increased cardiovascular risk, insulin resistance, and endothelial dysfunction, yet remains underdiagnosed.

This observational longitudinal study aims to comprehensively evaluate t…

Enrolling by Invitation

NCT07206888 — Advanced Ultrasound Signal Processing of Suspicious Breast Images

This study aims to investigate recent developments in ultrasound signal processing to determine if these new techniques can enhance the visibility of important features of interest in breast ultrasound images. Ultrasound signals obtained from both standard ultrasound imaging and ultrasound imaging combined with light (also known as photoacoustic imaging) will be investigated.

NCT06786754 — Fibroblasts and Thoracic Aortic Aneurysms: in Vitro Characterization in With Marfan Syndrome and Genetic Aortic Diseases

The aim of the present study is to characterise the phenotype of fibroblasts and to classify different mechanisms involved in the onset and progression of TAAD in syndromic and non-syndromic subjects in order to evaluate potential markers related to TAAD.

NCT07672210 — PregnAncy-Related Aortic DISsEction in China

A multicenter observational study on pregnancy-related aortic dissection

Completed Trials

NCT00429364 — Comparison of Two Medications Aimed at Slowing Aortic Root Enlargement in Individuals With Marfan Syndrome

Marfan syndrome is a hereditary connective tissue disorder. Many individuals with this condition die because of the associated heart and blood vessel abnormalities. This study will compare the effectiveness of two medications, losartan and atenolol, at slowing aortic root enlargement in individuals with Marfan syndrome.

NCT07360704 — Genotypes and Craniofacial Phenotypes in Orthodontic Patients With Marfan and Loeys-Dietz Syndromes

The aim of this retrospective observational study is to investigate the association between genotype and craniofacial phenotype in orthodontic patients affected by Marfan and Loeys-Dietz syndromes. A total of 39 patients aged between 4 and 18 years were enrolled and stratified into four groups according to the underlying pathogenic genetic variants. Lateral cephalometric radiographs were analyz…

NCT04863443 — Nonlinear Elasticity Mapping of Breast Masses

This proposed technique, called “Nonlinear Elasticity Mapping (NEM)”, is an innovative approach to estimate (i.e., linear and nonlinear) elasticity to provide complementary and relevant information for identification and characterization of breast masses.

The proposed technique includes imaging the (nonlinear) elasticity parameter in a quantitative manner and measuring two new and relevant par…

NCT03236571 — Cardiorespiratory and Muscular Rehabilitation of Children and Young Adults With Marfan Syndrome.

Marfan syndrome (MFS) is a rare genetic disease (1/5000) characterized by the association of ocular impairment, cardiovascular disease and musculoskeletal disease.

In some chronic conditions, physical activity and training have been shown to be effective in improving muscle strength and functional abilities but also fatigue and quality of life. We hypothesize that the implementation of a perso…

NCT06250764 — Asprosin, Adropin, Irisin Levels in Periodontitis

The recently discovered association of the hormones ‘asprosin, adropin and irisin’ with obesity and metabolic status, as well as the fact that periodontal diseases are affected by obesity and nutrition bilaterally, have led us to investigate the relationship between selected target markers and periodontal disease. The primary aim and main objective of this study is to increase the knowledge and…

NCT04641325 — Marfan Syndrome Moderate Exercise Pilot

Marfan syndrome (MFS) affects multiple organ systems including the heart, bones, ligaments, and eyes, and is associated with significant risk of aortic dissection. Given limited evidence from in-vitro studies, and theoretical concerns, the majority of patients with MFS are restricted from certain physical activities. The lack of exercise and deconditioning have detrimental effects including inc…

NCT07008274 — Laparoscopic Sleeve Gastrectomy-Induced Decline in Plasma Asprosin and Its Association With Metabolic Recovery

the present study aimed to systematically assess the changes in plasma asprosin levels at 3, 6, and 12 months after LSG, to explore the relationships between asprosin dynamics and key metabolic parameters, including body mass index (BMI), fasting glucose, insulin resistance assessed by the homeostasis model (HOMA-IR), and lipid profiles, and to compare asprosin concentrations between bariatric …

NCT04776681 — Living With Marfans and Your Aorta: Surgical Outcomes Study

Marfan Syndrome (MFS) is a genetic disease affecting the eyes, skeleton, heart and arteries. Despite MFS affecting multiple organ systems, cardiovascular manifestations are the most serious and life threatening. Approximately 80% of adult MFS patients will have a dilated aortic root by age 40 years with aortic aneurysm and dissection the leading causes of morbidity and mortality. Living with a …

NCT04776668 — Living With Marfan Syndrome and Your Aorta

Marfan Syndrome (MFS) is a genetic disease affecting the eyes, skeleton, heart and arteries. Despite MFS affecting multiple organ systems, cardiovascular manifestations are the most serious and life threatening. Approximately 80% of adult MFS patients will have a dilated aortic root by age 40 years with aortic aneurysm and dissection the leading causes of morbidity and mortality. Thus, MFS pati…

NCT06627972 — Asprosin Level in Individuals With Periodontal Disease

The aim of this study was to investigate the levels of asprosin hormone and tumour necrosis factor alpha (TNF-α) in gingival crevicular fluids and to compare its level with those in saliva and serum in patients with gingivitis and periodontitis.

NCT05123339 — Clinical Signs and Activity Limitations Associated With Dural Ectasia in Patients With Marfan Disease

Primary outcome is to compare the frequency and clinical features of spinal symptoms between Marfan patients with dural ectasia (cases) and those without (controls).

1. / Frequency of orthostatic headaches
2. / Frequency of low back pain due to orthostasis
3. / Frequency of low back pain during Vasalva maneuvers
4. / Frequency of lumbar claudication
5. / Frequency of root claudication

Seconda…

NCT05712564 — Fatigue, Depressive Disorders and Insomnia in Adult Patients with Marfan Syndrome and Ehlers-Danlos Syndrome: Survey

The goal of this observational study is to describe and assess the presence of perceived fatigue in subjects with MFS and EDS. the main question it aims to answer through the FSS instrument is:

• The relationship of fatigue with physical and psychological characteristics, the presence of depressive disorders and insomnia.

NCT05944614 — Towards Optimal Treatment of Marfan Syndrome

The purpose of this study is to determine whether new magnetic resonance imaging techniques can be used as a biomarker of aortic disease severity in patients with Marfan syndrome.

NCT05711693 — Measurement of Heart-carotid Pulse Wave Velocity (hcPWV) by Laser Doppler Vibrometry (LDV)

Aortic stiffness is an important imaging biomarker of vascular aging. The ascending aorta is the most elastic segment, and it is excluded by reference non-invasive method carotid to femoral pulse wave velocity (PWV). We propose to use laser-doppler vibrometry (LDV) to record superficial vibrations generated by cardiac activity and arterial pulses for measuring heart carotid PWV, a surrogate for…

NCT06879951 — EVALUATION of GINGIVAL CREVICULAR FLUID and SERUM ASPROSIN LEVELS in OBESE and NORMAL-WEIGHT INDIVIDUALS with PERIODONTITIS

Obesity and periodontitis are chronic inflammatory diseases that share common pathological mechanisms. Asprosin, a novel adipokine discovered in 2016, has not been extensively studied in relation to periodontal tissues. In our study, we investigate the levels of asprosin in both serum and gingival crevicular fluid of patients with obesity and those of normal weight who have periodontitis. Addit…

NCT04774172 — Mortality and Morbidity Outcomes in Marfans

Marfan Syndrome (MFS) is a genetic disease affecting the eyes, skeleton, heart and arteries. Despite MFS affecting multiple organ systems, cardiovascular manifestations are the most serious and life threatening. Approximately 80% of adult MFS patients will have a dilated aortic root by age 40 years with aortic aneurysm and dissection the leading causes of morbidity and mortality. Improvement in…

NCT05980104 — Single-Session “Empowered Relief” Class for Marfan Syndrome and Related Conditions

Empowered Relief (ER) is a 1-session pain relief skills intervention that is delivered in-person or online by certified clinicians to groups of patients with acute or chronic pain. Prior work in has shown ER efficacy for reducing chronic pain, pain-related distress, and other symptoms 6 months post-treatment. The purpose of this study is to conduct the first feasibility and early efficacy test …

NCT06872268 — APPLICATION OF THERAPEUTIC PHOTOGRAPHY AND EXPRESSIVE WRITING IN THE MANAGEMENT OF PATIENTS WITH MARFAN SYNDROME

This study explores the efficacy of therapeutic photography and expressive writing as interventions in routine practice for patients with Marfan syndrome.

NCT06993818 — Asprosın And Tumor Necrosıs Factor-α Levels In Type 2 Dıabetıc Chronıc Periodontitis

Periodontal disease is a chronic, multifactorial inflammatory disease in which biochemical and cellular events trigger each other, leading to the destruction of the tissues supporting the teeth . The pathogenesis of the disease is a dynamic process that develops as a result of complex interactions between pathogenic bacteria and the host response . There is a bidirectional relationship between …

NCT07691060 — Asprosin and Total Antioxidant/Oxidant Status in Diabetes and Periodontal Disease

The goal of this observational study is to learn about how different periodontal health status affects the levels of asprosin (a hormone) and total oxidant/antioxidant status in the gingival crevicular fluid and blood serum of individuals with Type 2 diabetes.

The main questions it aims to answer are:

Do individuals with Type 2 diabetes and periodontal disease have different levels of asprosi…

NCT07616570 — Serum Adipokines and Metabolic Parameters With Hormone Replacement in Newly Diagnosed Hypothyroidism

Primary hypothyroidism is associated with significant metabolic disturbances, including dyslipidemia, insulin resistance, adipose tissue dysfunction, and altered adipokine secretion. Although levothyroxine replacement therapy effectively restores thyroid hormone levels, the extent to which biochemical recovery reflects metabolic improvement remains unclear.

This prospective observational study…

Other (Suspended)

NCT01547442 — Artisan Aphakia Lens for the Correction of Aphakia in Children

The purpose of this study is to determine the safety and effectiveness of the Artisan Aphakia Lens in the treatment of aphakia in children.

Other (Unknown)

NCT06257004 — Genome-wide Epistasis for Cardiovascular Severity in Marfan Study

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with pleiotropic manifestations in the ocular, skeletal and cardiovascular systems. Morbidity and mortality are mostly determined by aortic root aneurysm dissection and rupture. Although mutations in FBN1, the gene coding for the extracellular matrix protein fibrillin-1, are the well-established genetic cause of this cond…

NCT05012228 — Molecular Mechanisms of Fibrillin/LTBP Superfamily in Renal Fibrosis and Cardiorenal Syndrome

This project is to understand the LTBP4 expression in human renal fibrotic tissues. The investigators will exam major location of LTBP4 expression and check any similar or discrepancy in renal fibrosis with different etiologies.

NCT05712577 — Psychological Support in Adult Patients With Marfan Syndrome

The goal of this observational study is to identify key factors leading to psychotherapy or psychological support in adult subjects with Marfan syndrome (MSF). the main questions it aims to answer are:

• Understand and define which internal variables of the individual drive this request for psychological support;
• To learn about verify the impact that the clinical manifestations of MSF have o…

NCT06304246 — The Relationship Between Preoperative Serum Asprosin Level and Postoperative Analgesic Consumption in Patients Undergoing Caesarean Section

Adipokines are bioactive substances secreted from adipose tissue and have various functions on appetite, energy, lipid, carbohydrate metabolism, regulation of blood pressure, and inflammation. One of these is asprosin, discovered in 2016, which is secreted from white adipose tissue. It has been shown that the level of asprosin encoded by the Fibrillin 1 gene can vary in metabolic syndrome assoc…