Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China

• Sponsor: Shanghai Children's Medical Center (Other)
• Overall Status: Unknown status
• CT.gov ID: NCT02231983
• Collaborator: (none)
• Enrollment: 50
• Location: 1
• Duration (Months): 24
• Patients Per Site Per Month: 2.1

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Severe Combined Immunodeficiency	Genetic: gene sequencing

Detailed 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.

Study Design

• Study Type: Observational [Patient Registry]
• Anticipated Enrollment: 50 participants
• Observational Model: Cohort
• Time Perspective: Prospective
• Official Title: Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China
• Study Start Date: Sep 1, 2014
• Anticipated Primary Completion Date: Sep 1, 2016
• Anticipated Study Completion Date: Sep 1, 2016

Arms and Interventions

Arm	Intervention/Treatment
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.	Genetic: gene sequencing; Amplify and identify exons from gene IL-2RG by PCR and agarose gel electrophoresis, and then followed by gene sequencing.

Outcome Measures

Primary Outcome Measures

1. times of infections [2 years]

Eligibility Criteria

Criteria

• Ages Eligible for Study: 2 Months to 2 Years
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

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.

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Shanghai children's medical center	Shanghai	Shanghai	China	200127

Sponsors and Collaborators

• Shanghai Children's Medical Center

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: Shanghai Children's Medical Center
• ClinicalTrials.gov Identifier: NCT02231983
• Other Study ID Numbers: SCID-20140901
• First Posted: Sep 4, 2014
• Last Update Posted: Sep 4, 2014
• Last Verified: Sep 1, 2014

• Keywords provided by Shanghai Children's Medical Center: Clinical Characteristics; Genetic Profiles
• Additional relevant MeSH terms: Severe Combined Immunodeficiency; Immunologic Deficiency Syndromes

Study Results

No Results Posted as of Sep 4, 2014