View clinical trials related to Rare Diseases.
Filter by: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.
Children with ultra-rare or complex rare diseases are routinely excluded from research studies because of their conditions, creating a health disparity. However, new statistical techniques make it possible to study small samples of heterogeneous populations. We propose to study the palliative care needs of family caregivers of children with ultra-rare diseases and to pilot test a palliative care needs assessment and advance care planning intervention to facilitate discussions about the future medical care choices families are likely to be asked to make for their child.
Families of children with rare diseases (i.e., not more than 5 out of 10.000 people are affected) are often highly burdened with fears, insecurities and concerns regarding the affected child and his/her siblings. The project at hand will test two innovative forms of care (CARE-FAM and WEP-CARE) at 17 sites in 12 federal states of Germany. The goal is to improve the mental health and quality of life of children affected by rare diseases and their relatives in a sustainable manner. If successful, these interventions will be introduced into regular care.