Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China
1 other identifier
observational
50
1 country
1
Brief Summary
Severe combined immunodeficiency (SCID), a rare primary immunodeficiency dieases (PID), is poorly characterized in mainland China. We meant to explore the patients with SCID refered to our hospital and summarize their clinical manifestations and genetic features.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for all trials
Started Sep 2014
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
September 1, 2014
CompletedStudy Start
First participant enrolled
September 1, 2014
CompletedFirst Posted
Study publicly available on registry
September 4, 2014
CompletedPrimary Completion
Last participant's last visit for primary outcome
September 1, 2016
CompletedStudy Completion
Last participant's last visit for all outcomes
September 1, 2016
CompletedSeptember 4, 2014
September 1, 2014
2 years
September 1, 2014
September 1, 2014
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
times of infections
2 years
Study Arms (1)
Severe Combined Immunodeficiency
Case histories were analyzed to grasp important characteristics of the diseases. Distribution of lymphocyte subsets from peripheral blood were examined by flow cytometry. Amplify and identify exons from gene IL-2RG by PCR and agarose gel electrophoresis, and then followed by gene sequencing.
Interventions
Amplify and identify exons from gene IL-2RG by PCR and agarose gel electrophoresis, and then followed by gene sequencing.
Eligibility Criteria
SCID patients
You may qualify if:
- Diagnostic criteria were based on recommendations by the Pan-American Group for Immunodeficiency and the European Society for Immunodeficiencies, which included failure to thrive, persistent diarrhea, respiratory symptoms, and oral candidiasis, or Pneumocystis pneumonia, severe bacterial infections, and disseminated Bacillus Calmette-Guérin (BCG) infection during the first 2 to 7 months of life.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
Shanghai children's medical center
Shanghai, Shanghai Municipality, 200127, China
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Target Duration
- 50 Months
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
September 1, 2014
First Posted
September 4, 2014
Study Start
September 1, 2014
Primary Completion
September 1, 2016
Study Completion
September 1, 2016
Last Updated
September 4, 2014
Record last verified: 2014-09