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Marfan Syndrome clinical trials

View clinical trials related to Marfan Syndrome.

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NCT ID: NCT06257004 Recruiting - Marfan Syndrome Clinical Trials

Genome-wide Epistasis for Cardiovascular Severity in Marfan Study

GEMS
Start date: November 30, 2020
Phase:
Study type: Observational

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 condition, there is a very poor correlation between the nature or location of the causal FBN1 mutation and the phenotypical outcome. Indeed, wide intra- and interfamilial phenotypical variability is observed. So, even with an identical primary mutation in all family members, the clinical spectrum varies widely, from completely asymptomatic to sudden death due to aortic dissection at a young age. The precise mechanisms underlying this variability remain largely elusive. Consequently, a better understanding of the functional effects of the primary mutation is highly needed and the identification of genetic variation that modifies these effects is becoming increasingly important. In this project, we have carefully selected different innovative strategies to discover mother nature's own modifying capabilities with respect to Marfan syndrome aortopathy.

NCT ID: NCT06250764 Completed - Obesity Clinical Trials

Asprosin, Adropin, Irisin Levels in Periodontitis

Start date: February 12, 2020
Phase:
Study type: Observational [Patient Registry]

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 to direct future researches as a result of the lack of adequate research in the past and the very limited investigations with these hormones in dentistry and periodontology. Our study was conducted on 122 patients who applied to Adıyaman University Faculty of Dentistry and were referred to the Department of Periodontology for routine periodontal controls. Participants' gender, age, height, weight, BMI, education level, tooth brushing and flossing habits as well as clinical parameters PI, GI, SCD, CAS and SDI were noted. Participants were divided into 4 groups as healthy, gingivitis, initial periodontitis and advanced periodontitis and grouped according to the current periodontal classification of 2017. DOS was collected from the groups for examination and 'asprosin, adropin and irisin' values in the samples were evaluated by ELISA test.

NCT ID: NCT05980104 Active, not recruiting - Chronic Pain Clinical Trials

Single-Session "Empowered Relief" Class for Marfan Syndrome and Related Conditions

Start date: March 21, 2024
Phase: N/A
Study type: Interventional

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 of online ER (two hours total treatment time) delivered to individuals with Marfan syndrome, Vascular Ehlers-Danlos Syndrome, Loeys-Dietz Syndrome, and related conditions. Participants will be followed for 3 months via 5 follow-up surveys.

NCT ID: NCT05951309 Completed - Insulin Resistance Clinical Trials

Myoinositol Treatment and Asprosin Levels in PCOS

Start date: September 1, 2021
Phase: N/A
Study type: Interventional

Policystic ovary syndrome is the most common endocrinopthy during reproductive period. One of the factors implicated in the pathogenesis is insulin resistance. Asprosin, which is secreted from white adipose tissue is a new candidate for insulin resistance. Myoinositol is known to reduce insulin resistance in PCOS patients. The effect of myoinsitol on serum asprosin levels is unknown yet. This study aimed to evaluate the effect of myoinositol on serum asprosin levels in PCOS patients.

NCT ID: NCT05944614 Recruiting - Marfan Syndrome Clinical Trials

Towards Optimal Treatment of Marfan Syndrome

TOWER
Start date: February 23, 2023
Phase:
Study type: Observational

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.

NCT ID: NCT05943158 Completed - Pregnancy Related Clinical Trials

Myoinositol Effect on Asprosin Levels

Start date: June 1, 2021
Phase: N/A
Study type: Interventional

Asprosin is aa adipokine associated with glucose and insulin metabolism. Insulin and glucose metabolism change during pregnancy and studies examining asprosin levels during pregnancy are increasing rapidly. Considering the beneficial effects of myo-inositol to support the physiological pregnancy, recovering and pre-venting adverse maternal and fetal outcomes, we aimed to evaluate the effects of its supplementation on serum asprosin levels in pregnant women.

NCT ID: NCT05838235 Not yet recruiting - Marfan Syndrome Clinical Trials

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

M&M's
Start date: May 2023
Phase: N/A
Study type: Interventional

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.

NCT ID: NCT05809323 Recruiting - Marfan Syndrome Clinical Trials

Marfan Syndrome Moderate Exercise Trial II

Start date: September 1, 2023
Phase: N/A
Study type: Interventional

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 deconditioning have detrimental effects including increasing weakness, joint pain, decreased endurance, and depressive symptoms. Given the significant paucity of data currently existing on the effects of exercise in humans with MFS, and the recent, optimistic findings in rodent models, this pilot trial was established to assess the effects of moderated dynamic exercise in adolescents and young adults with MFS.

NCT ID: NCT05748314 Recruiting - Rare Diseases Clinical Trials

Marfan Syndrome and Quality of Life of Pediatric Patients

MarfanPed
Start date: January 9, 2023
Phase:
Study type: Observational

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 take part in the study by completing four self-report questionnaires.

NCT ID: NCT05720923 Recruiting - Rare Diseases Clinical Trials

Analysis of Muscular Properties in Patients With MFS and EDS

MUSCLE
Start date: February 15, 2023
Phase:
Study type: Observational

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. Participants will be take part in the study by performing a test for the assessment of the neuromuscular activity (voluntary muscle contractions) and undergoing a muscle ultrasound for the study of muscles and tendons. Researchers will compare the two groups with a control group to see potential differences in the morphological and neuromuscular structures of syndromic patients.