Active clinical trials for "Rare Diseases"

porphyria is classified as a rare disease and is produced by defects in the enzymatic activity in the biosynthesis of the heme group that leads to the over-accumulation and excretion of porphyrin precursors in hepatocytes or erythroid cells, extrahepatic or extramedullary cells, tissue, and end-organ injury. Acute intermittent porphyria is the most common and severe form of hepatic porphyria, with an annual incidence of symptomatic patients of 0.13 per million people. Aim: characterization of cases of acute hepatic porphyria in Colombia. Methods: a descriptive pilot study of patients diagnosed with acute hepatic porphyria's in Colombia. Patients of all age groups with a confirmed diagnosis of acute hepatic porphyria. Patients with concomitant pathologies, as well as pregnant women, will also be included. Patients who refuse to participate in the study will be excluded. Expected results: describe the sociodemographic and clinical characteristics of patients with a diagnosis of acute hepatic porphyria, and encourage patients and/or representatives in the research agenda.

Sudoscan™ (Impeto Medical, Paris France) uses electrochemical skin conductance as a novel noninvasive method to detect sudomotor dysfunction. Several small studies have recently shown that Sudoscan use in the assessment of small fiber polyneuropathy (in diabetes mellitus) can be performed non-invasively, quickly and effectively. The investigators aim to study the use of Sudoscan in rare disease condition associated with small fiber polyneuropathy.

The recent implementation of European Reference Networks for Rare Diseases (ERNs) is an unprecedented move to improve the care of patients suffering from rare health disorders by transnational collaboration. ERN-RND, the ERN for Rare Neurological Diseases, oversees more than 35,000 patients in 31 specialist centers in 13 countries. The ERN-RND registry aims to gather information on patient cohorts in the multiple specialist centers and to provide an overview on patient numbers principally accessible for translational studies.

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.

Primary Central Nervous System Lymphoma (PCNSL) have a specific mutational profile in comparison to systemic diffuse large cells lymphoma (DLBCLs) that can be related to the expression of immunohistochemical markers as cyclon, NPM1, CD30, and P53 which could be predictive factor for prognosis and/or chemotherapy response. The main objective of this study is to identify new prognostic factors and new potential therapeutic targets. The secondary objectives are to correlate the histological, the radiological and the clinical's informations of these patients.

The GENOME FIRST APPROACH project will enroll patients (n = 450) and their healthy parents with unclear molecular cause of the disease, suspected genetic cause of the disease and the healthy parents of those affected for trio analysis (N in total 1350).

This is a randomized, placebo controlled and double-blinded study to evaluate the pharmacokinetics (PK), pharmacodynamics (PD) and safety of a single dose (1 mg/kg) of emapalumab in adult healthy Japanese subjects.

In this prospective longitudinal cohort study we studied the efficacy and safety of burosumab in real-clinical practice for <13- and >13-years old children affected with X-linked hypophosphatemia. 57 children with XLH were switched from conventional treatment to burosumab. After 12 months we assessed the efficacy and safety of treatment with burosumab on the whole cohort and separately on the cohort of >13-years old adolescents.

The prevention and treatment of diseases via artificial intelligence represents an ultimate goal in computational medicine. The artificial intelligence for systematic clinical application has not yet been successfully validated. Currently, the main prevention strategy for rare diseases is to build specialized care centers. However, these centers are scattered, and their coverage is insufficient, resulting in inadequate health care among a large proportion of rare disease patients. Here, the investigators use "deep learning" to create CC-Cruiser, an intelligence agent involving three functional networks: "pick-up networks" for diagnostics, "evaluation networks" for risk stratification and "strategist networks" to provide assisted treatment decisions. The investigator also establish a cloud intelligence platform for multi-hospital collaboration and conduct clinical trial and website-based study to validate its versatility.

The VetSeq Study is a pilot intervention study exploring the feasibility of integrating genome sequencing into clinical care at the VA Boston Healthcare System.