Clinical trial NCT03252548: Pediatric Primary Immunodeficiency Disease (PID) in China
Official title: Clinical Characteristics and Prognosis of Primary Immunodeficiency Disease (PID) in Chinese Children
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Primary Immunodeficiency Disease
Lead sponsor: Beijing Children's Hospital
Sponsor class: OTHER
Collaborators: name: Capital Institute of Pediatrics, China
name: Shenzhen Children's Hospital
First posted: 2017-08-17
Enrollment: 400
Sex: ALL
Minimum age (years): 1
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Children who was confirmed diagnosis as PID at the certain hospitals

Brief summary: This study is a prospective cohort study of children diagnosed with primary immunodeficiency disease (PID). The aim is to investigate the clinical characteristics and prognosis of PID in Chinese children.

Detailed description: Primary immunodeficiency disease (PID) is a group of rare and fatal disease. However, the research about clinical characteristics, treatment, management and prognosis of Chinese children with PID is still not perfect and there is no basic and large database. Therefore, this study is conducted, in order to set up a complete database and long term follow up of Chinese children with PID, and establish foundations for basic research and precise medicine.

This study is divided into two parts. In part one, pediatric patients with PID in the past 10 years will be collected retrospectively by review medical records from these centers, and investigate the clinical features and prognosis. In part two, all new cases with suspected PID will be collected. Clinical symptoms, physical examination, blood tests, and humoral and cellular immune functions will be detected. Gene tests would be done when necessary to confirm the diagnosis. Then follow up at 6-moth, 1-year, 2-year, 3-year, 4-year and 5-year respectively. The trial will be completed in 60 months.

Eligibility criteria: Inclusion Criteria:

1. Age: from neonates to 18 years old
2. Fulfilling the one of the followings:

   1. Severe infection after vaccination (BCG, polio arthritis pill)
   2. Chronic/recurrent ear infection, sinus infections and respiratory tract infection
   3. Recurrent, deep skin or deep-seated infections
   4. Boys with early period and refractory thrombocytopenia
   5. Infants with obviously decreased absolute number of lymphocytes
   6. Severe allergy with infection
   7. Infant diabetes with severe diarrhea
   8. Boys with severe Epstein-Barr virus infection
   9. Infants with hepatosplenomegaly and generalized lymphadenopathy
   10. Infantile hemophagocytic syndrome
   11. Failure of an infant to gain weight or grow normally
   12. Persistent thrush in mouth or fungalinfection on skin
   13. Family history of primary immunodeficiency
   14. Invasive pneumococcal infection
   15. Erythrodermic psoriasis
3. Gene test confirmed PID pediatric patients

Exclusion Criteria:

Subject will be excluded if she or he would not enroll into this study

Primary outcomes:
measure: Frequencies of severe infection of children with PID
timeFrame: 60 months
Secondary outcomes:
measure: Life quality of children with PID
timeFrame: 60 months
measure: Complications of children with PID
timeFrame: 60 months
measure: Long-term changes on lung function of children with PID
timeFrame: 60 months
Other outcomes:
Locations:
Study officials:
affiliation: Beijing Children's Hospital, Capital Medical University, China
name: kunling shen, MD,PhD
role: STUDY_DIRECTOR
affiliation: Beijing Children's Hospital, Capital Medical University, China
name: jianxin he, MD,PhD
role: PRINCIPAL_INVESTIGATOR
References: