Registry Study on Respiratory Monogenic Diseases in Chinese Children

Beijing Children's Hospital

This study is a multicenter, prospective cohort study of patients diagnosed with respiratory monogenic diseases, the clinical information of recruited patients, including clinical manifestations, lung function, chest imaging, quality of life and other indicators, will be followed for 5 years.

Study Overview

• Status: Recruiting
• Conditions: Monogenic Diseases
• Intervention / Treatment: Other

Detailed Description

All new cases of respiratory monogenic diseases was confirmed or diagnosed at each center from the beginning of the study are made the investigation of the clinical manifestations and specific tests by the standard diagnostic process.Then all the patients' following clinical data will be followed for 5 years: clinical manifestations, lung function, chest imaging (once per year), gene test, quality of life and other indicators.

• Study Type: Observational
• Enrollment (Anticipated): 200

Contacts and Locations

• Study Contact: Name: Kunling Shen, MD,PhD; Phone Number: 861059616308; Email: kunlingshen1717@163.com

Study Locations

• China
  • Beijing
    • Beijing, Beijing, China, 100045
      • Recruiting
      • Beijing Children's Hospital
      • Contact: Kunling Shen, MD,PhD; Phone Number: 861059616308; Email: kunlingshen1717@163.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 month to 18 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Children who was confirmed diagnosis as respiratory monogenic diseases at the certain hospitals (sponsor and collaborators)

Description

Inclusion Criteria:

1. Age: 0-18 years, male and female.
2. Any organ system symptoms consistent with the diagnostic points of respiratory monogenic diseases.
3. Agree to retain specimens related to disease research and agree to store the specimens in the sample bank.
4. willing and able to cooperate with long-term follow-up.
5. The guardian of the child has a full understanding of the purpose of the study, a basic understanding of the clinical research program, and voluntarily allows the child to participate in the study and sign an informed consent form.

Exclusion Criteria:

1. It is unable to provide complete medical records or the current condition can not accept the diagnosis process
2. She or he cannot agree to participate in the study.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Monogenic diseases cases

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change from baseline in lung function on the spirometry	forced expiratory volume at one second (FEV1) in Liter	1 year later

Collaborators and Investigators

• Sponsor: Kunling Shen
• Collaborators: Shengjing Hospital; Xinhua Hospital, Shanghai Jiao Tong University School of Medicine; Guangzhou Women and Children's Medical Center; The Children's Hospital of Zhejiang University School of Medicine; Yuying Children's Hospital of Wenzhou Medical University; Children's Hospital of Chongqing Medical University; Capital Institute of Pediatrics, China; The first clinical college of Guangzhou medical university

Study record dates

Study Major Dates

• Study Start (Actual): January 1, 2017
• Primary Completion (Actual): January 1, 2018
• Study Completion (Anticipated): December 30, 2030

Study Registration Dates

• First Submitted: May 6, 2018
• First Submitted That Met QC Criteria: May 6, 2018
• First Posted (Actual): May 18, 2018

Study Record Updates

• Last Update Posted (Actual): May 18, 2018
• Last Update Submitted That Met QC Criteria: May 6, 2018
• Last Verified: May 1, 2018

More Information

Terms related to this study

• Keywords: China; Children; Respiratory; Diseases; Monogenic diseases
• Other Study ID Numbers: BCHlung 010

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No