Active clinical trials for "Syndrome"

The goal of this observational study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile in all patients (adults and children) affected with an ID regardless of the severity of the disease, with a molecular characterization, with a signed informed consent for all subjects, followed in one partner's center. The main questions it aims to answer are: Can we identify common metabolic profiles for all imprinted diseases? Which imprinting disorders have an impact on the metabolic profiles of IDs? Which are the metabolic risks associated to IDs? Can we use the metabolic profiles for the clinical classification and prognosis of IDs? Are there common therapeutic approaches for all IDs?

The study has two aims: To (1a) determine the frequency of monogenic diabetes misdiagnosed as type 1 diabetes (T1D) and (2) to define an algorithm for case selection. To discover novel genes whose mutations cause monogenic diabetes misdiagnosed as T1D.

Hantavirus disease are zoonotic infections and remain a clinical challenge with globally increasing incidence and multiple serious outbreak situations in Europe within the last years. Hantavirus disease encompasses two clinical syndromes, hemorrhagic fever with renal syndrome (HFRS) and hantavirus cardiopulmonary syndrome (HCPS) caused by Old World and New World hantaviruses, respectively. Depending on the causative Old World hantavirus species, clinical course of HFRS can vary from mild to moderate to severe. At present, there is no specific therapy available for hantavirus disease. As the clinical course of hantavirus disease is dependent on the causing viral pathogen and as there worrisome hints that clinical course HFRS and HCPS overlap, further studies with regard to the disease course are mandatory. Furthermore, the examination of attributable mortality and costs of hantavirus disease will need to be studied on a multinational basis and therefore HantaReg will particularly use a matched case control design.

Pediatric idiopathic nephrotic syndrome (INS) is a rare disease for which the optimal therapeutic strategy has not yet been defined. A network of clinicians treating complicated forms of this disease (grouped within the Société de Néphrologie Pédiatrique, SNP) exists, but to date there is no prospective cohort following up these patients that would facilitate the development of cohort-nested trials. This absence of structured follow up makes it difficult to set up prospective studies. The main objective is to create a prospective cohort of pediatric INS patients to collect cases treated in SNP centers, to study their epidemiological characteristics, and to provide a basis for comparison for future cohort-nested trials.

Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists. Increased life expectancy Although many genetic syndromes used to cause premature death, improvement of medical care has improved life expectancy. More and more patients are now reaching adult age, and the complexity of the syndrome persists into adulthood. However, until recently, multidisciplinary care was not available for adults with rare genetic syndromes. Ideally, active and well-coordinated health management is provided to prevent, detect, and treat comorbidities that are part of the syndrome. However, after transition from pediatric to adult medical care, patients and their parents often report fragmented poor quality care instead of adequate and integrated health management. Therefore, pediatricians express the urgent need for adequate, multidisciplinary adult follow up of their pediatric patients with rare genetic syndromes. Medical guidelines for adults not exist and the literature on health problems in these adults is scarce. Although there is a clear explanation for the absence of adult guidelines (i.e. the fact that in the past patients with rare genetic syndromes often died before reaching adult age), there is an urgent need for an overview of medical issues at adult age, for 'best practice' and, if possible, for medical guidelines. The aim of this study is to get an overview of medical needs of adults with rare genetic syndromes, including: comorbidities medical and their impact on quality of life medication use the need for adaption of medication dose according to each syndrome Methods and Results This is a retrospective file study. Analysis will be performed using SPSS version 23 and R version 3.6.0.

Li-Fraumeni Syndrome (LFS) and Li-Fraumeni-like (LFL) Syndrome are cancer predisposition syndromes due to germline aberrations in the TP53 gene. Patients with classical LFS have a lifetime malignancy risk between 80-90%, with 21% of those cancers occurring by the age of 15 years. There are established guidelines for screening patients with LFS that have led to earlier detection and treatment of cancer in this population. There are a number of important issues facing patients identified to have germline TP53 variations. First, with the advent of massively parallel sequencing, increasing numbers of patients are now being identified with a wide range of clinical phenotypes associated with germline TP53 mutations, and the natural history of these patients is less well understood. Second, surveillance for malignancy in LFS and other TP53-associated syndromes involves frequent laboratory and radiologic studies that are imperfect measures of disease onset; therefore, more specific, less invasive biomarker-driven screening methods are needed. Finally, studies to date have not yet identified whether tumors which form in LFS or other germline TP53-associated tumors have unique aberrations or signatures that could be exploited in precision medicine treatment of these patients. In order to study these important issues in LFS, this protocol will establish a TP53 Clinical Database and Biobank. The Investigator plans to use this biobank to study genotype-phenotype correlations in patients with LFS and other germline TP53-associated syndromes, mechanisms of tumor formation, and novel methods of cancer screening in this high risk population.

The aim of this study is to determine the validity and reliability of the Turkish version of the Functional Shoulder Score in Turkish patients with subacromial impingement syndrome (SIS).

Intro: Dermatology department of Henri Mondor Hospital (Creteil, France), is a reference center for toxic bullous diseases and severe cutaneous drug reactions (Stevens-Johnson syndrome (SJS), Lyell syndrome (toxic epidermal necrolysis (TEN)), generalized bullous fixed drug reactions, AGEP, DRESS, drug induced immunoglobulin A (IgA) bullous dermatosis, and erythema multiforme). In order to conduct clinical and biological research studies in drug reactions, it is necessary for the investigator's department to implement a collection of clinical data and biological samples. Hypothesis/Objective: To collect clinical data and cutaneous and biological samples for immunological, biological and genetic studies to improve knowledge about pathophysiology of drug reactions. Method: The following samples will be performed in addition to the routine practice samples: one skin punch biopsy (6mm); 43 mL of blood; blister fluid aspiration; oral and nose mucous membrane and skin eSWABs, stool samples. These samples will be stored in a dedicated biological sampling department ("Platform of biological resources"). Conclusion: The implementation of this collection should allow us to conduct pathophysiological studies about drug reactions.

The ACO-ASSO (Austrian Society of Surgical Oncology) colorectal group and Austrian Working Group for Coloproctology present the LARS Austria study. It is a prospective, multicenter observational study. The primary objective of this study is to collect information about LARS (LARS score) and QoL (EORTC -CR29) in patients with non-metastatic rectal cancer who received therapy. As a secondary objective, the impact of radiotherapy on the occurrence of LARS will be investigated.

The purpose of this study is to collect and analyze data regarding natural history, indications for fetal interventions, and maternal and fetal/neonatal outcomes associated with complicated monochorionic twin pregnancy.