Severe Combined ImmunodeficiencyNCT02231983
Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China
An observational study of Severe Combined Immunodeficiency, run by Shanghai Children's Medical Center at 1 site in China.
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. Read more about this study
- Who is it for?
- Ages 2 months to 2 years
- Conditions the study is for
- Severe Combined Immunodeficiency
- What is being tested?
- gene sequencing
- How many people
- 50 participants
- Where
- 1 siteChina
- Study dates
- Sep 2014to Sep 2016
- How long will I take part?
- 50 Months
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 months to 2 years
- All sexes
- No healthy volunteers
- Child
Study population: SCID patients
Who may be able to join
- 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.
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
Ying-Ying Jin contact
China1 site
Shanghai children's medical center
Shanghai, Shanghai Municipality, 200127
About this study
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.
Read the 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.
- Conditions
- Severe Combined Immunodeficiency
- Being tested
- gene sequencing
- Keywords
- Clinical Characteristics, Genetic Profiles
- Medical subject headings
- Severe Combined Immunodeficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
gene sequencingGenetic
Amplify and identify exons from gene IL-2RG by PCR and agarose gel electrophoresis, and then followed by gene sequencing.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Genetic: gene sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
times of infections
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Sep 2014 (estimated)
- Study startSep 2014
- Primary completionSep 2016 (estimated)
- Study completionSep 2016 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Severe Combined ImmunodeficiencyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 50 participants (estimated)
- Target duration
- 50 Months
Sponsor and investigators
- Lead sponsor
- Shanghai Children's Medical Center
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02231983
- Sponsor's protocol ID
- SCID-20140901
- Status last verified
- Sep 2014
- First submitted
- 1 Sep 2014
- Last updated
- 4 Sep 2014
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 4 Sep 2014. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China
- ClinicalTrials.gov ID
- NCT02231983
- Acronym / sponsor ID
- SCID-20140901
- Conditions
- Severe Combined Immunodeficiency
- Keywords
- Clinical Characteristics, Genetic Profiles
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Shanghai Children's Medical CenterUniversity, hospital or other
- Study start
- Sep 2014
- Primary completion
- Sep 2016 (estimated)
- Study completion
- Sep 2016 (estimated)
- First posted
- 4 Sep 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 50 Months
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Severe Combined Immunodeficiency | – | Genetic: gene sequencingCase 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. |
Who may qualify
- Ages
- 2 months to 2 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- SCID patients
Key inclusion criteria (2 listed)
- 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.
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| gene sequencingAmplify and identify exons from gene IL-2RG by PCR and agarose gel electrophoresis, and then followed by gene sequencing. | Genetic | Severe Combined Immunodeficiency |
Primary outcome
times of infections
Time frame: 2 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Sep 2014.
Related trials for Severe Combined Immunodeficiency
RecruitingObservational study
Genetic Basis of Immunodeficiency
Severe Combined Immunodeficiency
RecruitingPhase 1/2
Lentiviral Gene Transfer for Treatment of Children Older Than Two Years of Age With X-Linked Severe Combined Immunodeficiency (XSCID)
X-linked Severe Combined Immunodeficiency (XSCID)
Not yet recruitingPhase 1/2
SCID-X1 Gene Therapy Via Intravenous Lentiviral (Ivlv-X1) Injection
SCID, X-Linked
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Gene Therapy for ADA-SCID Using an Improved Lentiviral Vector (Ivlv-ADA)
Adenosine DeAminase Severe Combined ImmunoDeficiency (ADA-SCID)
Enrolling by invitationObservational study
Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders
Primary Immunodeficiency, DOCK8
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Ying-Ying Jin contact
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Severe Combined Immunodeficiency, run by Shanghai Children's Medical Center at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 4 Sep 2014. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Ying-Ying Jin (jinjin301@163.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
times of infections (time frame: 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Sep 2014.