View clinical trials related to Rare Diseases.
Filter by: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.
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.
The goal of this observational study is to study arterial stiffness in patients with ascending aortic aneurysms, either syndromic or non syndromic. The main questions it aims to answer are: - Stratification of aortic risk based on Pulse Wave Velocity; - Compare measurements with morphological and hemodynamic features of the ascending thoracic aorta. Participants will be asked to undergo non invasive evaluation of blood pressure and arterial pulse wave velocity.
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 on psychosocial aspects, self-esteem, subjective perception of the disease and coping mechanisms.
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.
The goal of this observational cross-sectional study is to learn about vagal features in patients with syndromic and non-syndromic TAA. The main question it aims to answer is to highlight a functional condition that could help stratify patients with TAA on the risk of aortic complications. Participant will take part by standing in supine position for 10 minutes and during active standing for 10 minutes. In this period of time, it will be possible to acquire the signals continuously and non invasively through recorded non-invasive blood pressure and piezoelectric sensor breathing belt.
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.
Rares diseases are a heterogeneous group of conditions which need important tools for diagnosis. The use of high-throughput sequencing is able to diagnose half of the patients. For the other part it is impossible to conclude due to the presence of variants of unknown significance (VOUS). Functional analysis are needed to bring strong argument to reclassify variants as pathogenic or benign. The main objective is to evaluate the diagnosis yield of this strategy.
Rare skin diseases are generally defined as serious life-threatening, progressive chronic diseases of the skin that occur extremely rarely (i.e., 5 in 10,000 people are affected). More than 80% are hereditary. In most cases, late diagnosis and the lack of therapeutic strategies also contribute to severe disease progression. Therefore, new therapeutic options are urgently needed and with them knowledge of the underlying mechanisms of disease development. The aim of this project is to better understand disease mechanisms and to identify new pathways and drug targets that will improve patient care or therapy. In order to investigate the mechanisms of disease development, it is necessary to isolate biological material, i.e. blood and affected skin tissue from patients. For this purpose, adults 18 years of age and older with a congenital rare skin disease are included. We take blood and (lesional) skin biopsies from patients to perform immunoprofiling, as well as cell biological studies with the patient's cells. The risk for the patients is low, as only peripheral blood and skin biopsies are taken. Potential risks include bruising and pain as well as infection, postoperative bleeding, wound infection or delayed wound healing, pain, and scarring. The samples are pseudonymized and stored with the pseudonym only. Cells and skin samples are only preserved with the prior consent of the patient.
The purpose of this study is to form a chronological map of common diseases and rare diseases in Chinese population by determining the prevalence of different diseases in each age group.