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D035583: Rare Diseases

Developed by Shray Alag, The Harker School
Sections: Correlations, Clinical Trials, and HPO

Correlations computed by analyzing all clinical trials.

Navigate: Clinical Trials and HPO


Correlated Drug Terms (0)


Name (Synonyms) Correlation

Correlated MeSH Terms (1)


Name (Synonyms) Correlation
D012871 Skin Diseases NIH 0.58

Correlated HPO Terms (1)


Name (Synonyms) Correlation
HP:0000951 Abnormality of the skin HPO 0.58

Clinical Trials

Navigate: Correlations   HPO

There are 3 clinical trials


1 COVID-19 and Rare Skin Diseases. European Observational Study (Data Research) During an Epidemic

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.

NCT04451902
Conditions
  1. Rare Diseases
MeSH:Skin Diseases Rare Diseases
HPO:Abnormality of the skin

Primary Outcomes

Description: Frequency of hospitalisations related to suspected and confirmed cases of Covid-19 infection and consequences

Measure: Analysis of the impact of COVID-19 infection on rare skin diseases: complications

Time: Baseline

Description: Frequency of hospitalisations related to suspected and confirmed cases of Covid-19 infection and analysis of associated factors: age, gender, pathology, comorbidities, medications

Measure: Analysis of the impact of COVID-19 infection on rare skin diseases: potential comorbidity factors

Time: Baseline

Description: Frequency of confirmed and suspected unconfirmed Covid-19 infections; description of clinical signs and signs of an impact on the chronic disease; description of possible therapeutic changes due to the Covid-19 infections

Measure: Analysis of the impact of COVID-19 infection on rare skin diseases: impact on the management of chronic conditions (change in treatment)

Time: Baseline
2 Natural History Study: COV2Base-a Rare Disease by COVID Study

Background: SARS-CoV-2 is the virus that causes COVID. It has caused a global pandemic. Most people have no to mild symptoms. But some people need to be hospitalized, and a small number need critical care. Older age as well as some socio-demographic factors and chronic health conditions may play a role in the severity of COVID. In this study, researchers want to assess population-, disease-, and gene-based risks for features associated with severe SARS-CoV-2 outcomes. Objective: To measure the frequency and severity of COVID infection in people with rare and common diseases, looking for conditions that increase risk of severe outcomes. Eligibility: People greater than 1 month of age, both with and without rare disease, who have access to the Internet. Design: This study will take place online. Participants will visit a website. They will fill out a survey. It should take less than 30 minutes to complete. They will answer questions about their current health and COVID exposures. They will answer questions about their demographic and location features that may impact their exposure to the virus. All questions are optional. Participants may repeat the survey in 6 to 12 months. Participants medical records may be reviewed. Participants may be contacted for future studies related to: - COVID - Their underlying health conditions - A new exposure that is being studied.

NCT04564274
Conditions
  1. Chronic Health Conditions
  2. Older Age is Associated With Increased Pathogenicity
MeSH:Rare Diseases

Primary Outcomes

Description: To quantify the frequency and severity of COVID infection in patients with rare and common diseases, looking for conditions that increase risk of severe outcomes.

Measure: To quantify the frequency and severity of COVID infection in patients with rare and common diseases, looking for conditions that increase risk of severe outcomes.

Time: 12 months

Secondary Outcomes

Description: To identify gene-, tissue- or sociodemographic level features that increase risk of severe COVID outcomes that may inform future genetic modifier studies.

Measure: To identify gene-, tissue- or sociodemographic level features that increase risk of severe COVID outcomes that may inform future genetic modifier studies.

Time: 13 months
3 SARS-COV2 Pandemic Serosurvey in a Rare Disease Population

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. Participants will give a blood sample and complete a survey 3 times over 1 year. These times are at enrollment, at about 6 months, and at about 12 months after enrolment. Participation will last for 1 year.

NCT04609085
Conditions
  1. SARS-COV2 Virus
MeSH:Rare Diseases

Primary Outcomes

Description: Anti-SARS-COV2 IgG, IgA, and IgM measured by ELISA

Measure: To estimate the proportion of people with rare diseases who have detectable antibodies to SARS-COV2 in the NCATS RDCRN Rare Diseases Survey over time.

Time: 2 years

Secondary Outcomes

Description: Variation in the Observed-to-expected ratio of people with detectable Anti-SARS-COV2 IgG, IgA, and IgM measured by ELISA (seroprevalent cases), across subgroups of people with different categories of rare diseases.

Measure: To estimate the proportion of detectable antibodies across specific categories of rare diseases (e.g., people who live with rare diseases characterized by immune compromise vs. people with hyper-reactivity of the immune system).

Time: 2 years

HPO Nodes


HPO

Alphabetical listing of all HPO terms. Navigate: Correlations   Clinical Trials


HPO Nodes


Reports

Data processed on December 13, 2020.

An HTML report was created for each of the unique drugs, MeSH, and HPO terms associated with COVID-19 clinical trials. Each report contains a list of either the drug, the MeSH terms, or the HPO terms. All of the terms in a category are displayed on the left-hand side of the report to enable easy navigation, and the reports contain a list of correlated drugs, MeSH, and HPO terms. Further, all reports contain the details of the clinical trials in which the term is referenced. Every clinical trial report shows the mapped HPO and MeSH terms, which are also hyperlinked. Related HPO terms, with their associated genes, protein mutations, and SNPs are also referenced in the report.

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