View clinical trials related to Rare Diseases.
Filter by:The GE-MED APPROACH project will enroll patients (n = appr. 12.000) with unclear molecular cause of the disease, suspected genetic cause of the disease without detailed molecular analysis like Whole Exome Sequencing (WES). The novelty of this study is to integrate genomic health concepts into immediate clinical care. To achieve these goals, a novel structure for the Triple P (3P) concept of personalized medicine (Personalized, Predictive, Preventive) integrated into a well-established health care system and associated with novel decentralized Disease Analysing Task Forces (DATF) will be implemented. The overall goal of this study is to implement, for the first time, Whole Genome Sequencing (WGS) analysis as a first line diagnostic test for all clinical indications such as Rare Disease (RD )and familial cancer syndromes.
This project is a randomized controlled trial to use a mobile health journal, called Zamplo (formerly known as MyHealthJournal or ZoeInsights), to record patient reported outcomes (PROM) in patients with metabolic disorders. The objective of the study is to assess the feasibility, acceptability and potential effectiveness of the Zamplo. The primary hypothesis is as follows: The Zamplo platform will significantly increase patient activation at 6 months post-baseline, defined as an individual's knowledge, skill, and confidence for managing their health and health care. The primary outcome is as follows: Patient activation following the use of Zamplo will serve as the primary outcome of interest and will be measured by the Patient Activation Measure (PAM) 13. The PAM 13 shows the degree of the patient's ability to manage their health with confidence by providing a total patient activation score. Brief Background: This project is a randomized controlled trial to use a mobile health journal, called Zamplo, to record patient reported outcomes (PROM) in patients with metabolic disorders. Zamplo is a software as a service (SaaS) digital platform on both iOS and Android platforms that allows real-time entry of patient symptoms and response to medications. It provides the patients with an interface to see their progress, store questions that they will ask at the next clinic visit, record their health data and use their data to engage in their health outcomes. MAGIC Clinic Ltd., which is the largest clinic in Alberta that manages metabolic disorders such as Fabry disease, Pompe disease, and Gaucher disease, will provide access to Zamplo to patients free-of-charge to evaluate its utility in managing the symptoms of their disease. Brief Study Design: The study is a two-armed randomized controlled design with 1:1 allocation to treatment (Zamplo app group) or control (usual care) arms, with assessments at four time points: baseline, 1 month, 3 months (primary outcome), 6 months and 12 months follow-up post-baseline. This is an open-label trial. The investigators intend to recruit 150 participants in this study, with 75 of them being controls. Inclusion Criteria: Adult patients with a diagnosis of metabolic disease Access to a smartphone with data connection Willingness to devote 10-15 mins of time in a day to log medications and notes Able to speak and write English sufficiently to complete questionnaires. Exclusion Criteria: Insufficient cognitive function to participate in the study The use of any electronic application requires some competency with the software on a cellphone, downloading the application and entering the data. Some patients who are elderly may not be familiar with this technology and would be excluded.
For the retrospective data analysis, patients with genetic diseases of any age and, if available, other family members, for whom genetic analyzes were carried out between 10/2016 and 12/2020, should be included. This equates to approximately 13,000 records, minus combined analyzes in the same patient, an estimated 12,000 individuals.
This research study is being done to find markers and identify causes of rare and undiagnosed diseases by analyzing patient's DNA (i.e., genetic material), RNA, plasma, urine, tissues, or other samples that could be informative of symptoms. Researchers are creating a biobank (library) of samples and information to learn more about treating rare and undiagnosed diseases.
30 months, multicentre, prospective observational study on adult (>18 years) patients with a diagnosis of rare and complex connective tissue diseases (rCTDs) who will be given the vaccine during the period from January 2021 and January 2022. Patients with the following diagnosis will be included: - antiphospholipid syndrome (APS), - Ehlers-Danlos syndrome (EDS), - idiopathic inflammatory myopathies (IIM), - IgG4-related disease (IgG4), - mixed connective tissue disease (MCTD), - relapsing polychondritis (RP), - Sjogren's syndrome (SS), - systemic lupus erythematosus (SLE), - systemic sclerosis (SSc) - undifferentiated connective tissue disease (UCTD)
SLC13A5 deficiency (Citrate Transporter Disorder, EIEE 25) is a rare genetic disorder with neurodevelopmental delays and seizure onset in the first few days of life. This natural history study is designed to address the lack of understanding of disease progression and genotype-phenotype correlation. Additionally it will help in identifying clinical endpoints for use in future clinical trials.
We propose to set up a prospective randomized controlled trial to control the security and assess the efficacy of adjuvant treatment by rheopheresis in necrotizing-ulcered calciphylaxis in the hemodialysis population.
Toxic epidermal necrolysis (TEN) including Stevens Johnson (SJS) and Lyell syndromes represent the most severe drug eruptions. It is an allergic disorder caused by cytotoxic T lymphocytes, specific of drugs, responsible for the destruction of keratinocytes by apoptosis. Regulatory T cell (CD25 high CD4+), normally responsible for controlling the activation of cytotoxic T lymphocytes, have altered function. Despite the progress made in the pathophysiological understanding of TEN, there is currently no effective treatment. The main symptom is bullous and skin peeling > 10% giving the appearance of great burns. The death rate is estimated between 30 and 40% due to visceral inflammatory injuries and bacterial superinfection. The risk of mortality is estimated during the initial treatment by calculating the SCORTEN (mortality>10% if SCORTEN>2, mortality>90% if SCORTEN>5). The morbidity is also very important (92% at 1 year), especially ophthalmologic with high risk of blindness... The therapeutic potential of G-CSF (Granulocyte-Colony Stimulating Factor) in TEN is supported by several observations. The G-CSF promotes skin healing. This has been shown in human burns, with a significant reduction in healing time under G-CSF. The mechanisms associate the growth factor effect on keratinocytes, macrophages stimulation and metalloprotease activity allowing tissue remodeling limiting sequels onset. Otherwise, healing altered in deficient G-CSF mice is corrected by the growth factor injection. The G-CSF is an immunomodulator whose activities appear to justify use in TEN : - Polarization of immune response to Th2 non-cytotoxic (anti Th1), - Preferential differentiation of naive LT (T lymphocytes) in regulator LT (CD25 high CD4+) and mobilization of regulator LT of the spinal cord to altered tissues. The G-CSF was used in a few cases of TEN with great efficacy. No data is available concerning sequels of SJS/TEN in treated patients. This clinical trial program, by providing proof of the efficacy of filgrastim in SJS/TEN, should allow progress in care of this serious toxics diseases. In the future, it could thus reduce the significant morbidity of these syndromes with a high rate of sequelae.
Background: The SARS-COV2 outbreak has had a major impact on the economy and society. Researchers want to learn how widespread the infection is in the rare disease community. To do this, they will get blood samples from people with rare diseases. They will use at-home sampling. This will allow them to get samples from people across a wide area. Objective: To estimate the proportion of people with rare diseases who have SARS-COV2 antibodies in the National Center for the Advancement of Translational Sciences Rare Disease Clinical Research Network (RDCRN) Rare Diseases Survey over time. Eligibility: People under age 90 who have a rare disease and have taken part in the Cincinnati Children s Hospital Medical Center (CCHMC) protocol# 2020-0299. Design: RDCRN will tell CCHMC participants about this NIH study. RDCRN will only reach out to those who agreed to be contacted for future studies. They will be contacted by phone and email. Participants will have a virtual visit to collect data. It will take place over the phone. Participants will be sent a home kit to collect a blood sample. The kit contains gauze, a lancet, bandages, a collection device, and instructions. They will also be given shipping materials. They will give up to 80ul of blood. They will ship the sample back to NIH. Participants will complete a survey. It can be done online or over the phone. Participation will last for 1 week.
The primary purpose of this study is to discover new disease genes for rare Mendelian disorders and its secondary purpose include diagnosing people with rare genetic disorders that have not been previously diagnosed through conventional clinical means, learning more about the pathobiology of genetic disorders, and developing novel diagnostic technologies and analytics. 500 participants with undiagnosed and suspected genetic disorders will be recruited over approximately 5 years time.