Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China

Severe Combined Immunodeficiency Clinical Trial

Official title:

Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT02231983
• Other study ID #: SCID-20140901
• Status: Not yet recruiting
• Phase: N/A
• First received: September 1, 2014
• Last updated: September 1, 2014
• Start date: September 2014
• Est. completion date: September 2016

Study information

• Verified date: September 2014
• Source: Shanghai Children's Medical Center
• Contact: Ying-Ying Jin
• Email: jinjin301[@]163.com
• Is FDA regulated: No
• Health authority: China: National Natural Science Foundation
• Study type: Observational [Patient Registry]

Clinical Trial 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.

Description:

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. In addition, patients included in the study were <2 years of age, with either transplacentally acquired maternal T cells or <20 % CD3+ T cells, the absolute lymphocyte count (ALC) <3000/mm3. Exclusion criteria include HIV infection, congenital rubella, DiGeorge syndrome, Zap70 deficiency, Cartilage hair hypoplasia, PNP deficiency and MHC class II deficiency.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 50
• Est. completion date: September 2016
• Est. primary completion date: September 2016
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 2 Months to 2 Years

Eligibility

Inclusion Criteria:

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.

Exclusion Criteria: HIV infection, congenital rubella, DiGeorge syndrome, Zap70 deficiency, Cartilage hair hypoplasia, PNP deficiency and MHC class II deficiency.

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

• Immunologic Deficiency Syndromes
• Severe Combined Immunodeficiency

Intervention

Genetic:
• gene sequencing
Amplify and identify exons from gene IL-2RG by PCR and agarose gel electrophoresis, and then followed by gene sequencing.

Locations

Country	Name	City	State
China	Shanghai children's medical center	Shanghai	Shanghai

Sponsors (1)

Lead Sponsor	Collaborator
Shanghai Children's Medical Center

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	times of infections		2 years	Yes