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Active clinical trials for "Rare Diseases"

Results 91-98 of 98

Medication Adherence and Non-adherence in Adults With Rare Disease

Cystic FibrosisHemophilia A4 more

The purpose of this study is to use the Medication Adherence Reasons Scale (MAR-Scale) to determine the extent of non-adherence to specific medications indicated to treat cystic fibrosis, hemophilia (A or B), idiopathic pulmonary fibrosis, myasthenia gravis, and sickle cell disease, and to identify the top patient-reported reasons for non-adherence. Internal reliability of the MAR-Scale will also be assessed in each condition.

Withdrawn12 enrollment criteria

COVID-19 and Rare Skin Diseases European Observational Study During an Epidemic

Rare Diseases

This is a European observational cohort study (data research) involving multiple centres to look at the potential impact of COVID infection on patients with rare skin diseases examining factors such as comorbidity, protection factors, and clinical and/or therapeutic factors. The data collected may provide additional information on the situation of patients and, on a wider basis, provide useful data applicable to the general population.

Unknown status11 enrollment criteria

Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic...

Rare Diseases

The project aims to improve the understanding of a significant group of rare diseases both from a genetic/diagnostic and clinical/experimental point of view and aims to develop one or more diagnostic protocols. The study will be conducted through the application of complementary experimental strategies, ranging from the clinical, genetic and molecular characterization of the pathology to the search for rare variants and the development of cellular disease models.

Unknown status2 enrollment criteria

Identification of Factors Associated With the Occurrence of Severe Forms of COVID-19 Infection in...

SARS-CoV2 InfectionRare Diseases2 more

Factors associated with severe forms of COVID-19 infection in patients with inflammatory rheumatic diseases (IRD) or Autoimmune Diseases (AID) are unknown. This unprecedented situation leads to empirical and potentially erroneous advice and recommendations for care. Identifying factors associated with severity, in the context of this pandemic, which is expected to last many months, and possibly years, is crucial for future patients. The objective of this work is to identify the factors associated with the occurrence of severe forms of COVID-19 infection in patients with IRD or AID, by combining analysis of 2 large databases.

Unknown status5 enrollment criteria

Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases

Movement DisorderCognitive Decline

In the study, NextGen SE are on-hand a cohort comprising each 50 pediatric and 50 adult patients, and in which there are an unclear movement disorder or an unclear cognitive disorder, examines the following questions : Primary: Number of diagnoses made by NGS Secondary: restriction of the quality of life by unclear disease Cost of not purposeful preliminary diagnostics ( beyond the minimal diagnostic data set ) Impact of the diagnosis to therapy and follow-up examinations Time to diagnosis

Unknown status24 enrollment criteria

Collection and Storage of Human Biospecimens for Research Into Rare Diseases and Medical Conditions...

Rare Genetic Disorders

The objective of this protocol is to enable collection of biospecimens to facilitate current and future multidisciplinary research in rare genetic disorders and medical conditions.

Unknown status4 enrollment criteria

Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China...

Intellectual DisabilityMultiple Congenital Anomaly1 more

To assess the indications and diagnostic efficiency of whole genome sequencing (WGS) in pediatric patients with unexplained intellectual disability/developmental delay, multiple congenital abnormalities and other rare and undiagnosed diseases

Unknown status5 enrollment criteria

Establish a "Taiwan Rare Disorder Tissue Bank", to Collect and Repost Biological Samples and Disease...

Rare Disorders

Even though rare disorders usually have limited case numbers, they have induced huge impacts on patients and their families, and has heavily burdened on our society and healthcare system as well. Therefore, it is essential to detect the occurrence of disorders and thus take appropriate measures as early as possible. The preventive goal is based on comprehensive understanding on rare disorders, available diagnostic and therapeutic approaches. However, studies related to rare disorders are often impeded by limited sample sizes and infrequent exchange of research materials among institutes. After referring to foreign experiences, the investigators have noticed that a non-profit tissue bank which can reposit biological samples and thus provide researchers access to samples, may be a solution. Through sharing this public asset, the investigators believe not only quantity and quality of rare disorder studies will be improved, the collaboration between various research institutes can also be strengthened afterwards. Most important of all, those achievements can ultimately benefit patients, families and the whole society.

Unknown status2 enrollment criteria
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