Genetic Diagnosis and Human Growth Hormone Treatment in Small for Gestational Age Children With Short Stature

• Conditions: Silver-Russell Syndrome; Small for Gestational Age Infant; Genetic Diseases, Inborn
• Interventions: Genetic: Blood collection for genetic analysis

• Registration Number: NCT05070234
• Lead Sponsor: Chunxiu Gong

Brief Summary

This study is a multi-center, retrospective and non-interventional research. In this study, a total of 150 short children who were small for gestational age and had been treated with recombinant human growth hormone (rhGH) are selected for genetic testing. The aims of this study are to analyze the genetic etiology of SGA children with short stature, and to compare the efficacy and safety of rhGH treatment in subjects with different etiologies.

Detailed Description

Not available

Study Timeline

• Status Verified: 2021-09
• Study First Submitted: 2021-09-27
• Study First Submitted QC: 2021-09-27
• Last Update Submitted: 2021-09-27
• Study First Posted: 2021-10-07
• Last Update Posted: 2021-10-07
• Study Start: 2021-10-11
• Primary Completion: 2022-08-30
• Study Completion: 2022-08-30

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 150

Inclusion Criteria

1. Single birth, clinical diagnosis of SGA;
2. rhGH treatment beginned before puberty (Tanner stage I), regardless of gender;
3. Before starting rhGH treatment, height was lower than -2 SDS compared with normal children of the same age and sex;
4. All the subjects and their guardians signed the informed consent and the informed consent for genetic testing.

Exclusion Criteria

1. No efficacy and safety data were recorded after treatment with rhGH;
2. A history of blood transfusion within 3 months before the collection of the genetic blood samples, or a history of bone marrow transplantation between rhGH treatment and the enrollment in this study;
3. Other conditions that the investigator considered unsuitable for inclusion in this study.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
short stature children born small for gestational age	Blood collection for genetic analysis	This group was defined as a group of children whose birth weight and/or birth length equal or less than -2 SD for sex and gestational age, and who had failed to catch up in growth, remaining short after 2 years old.

Primary Outcome Measures

Name	Time	Method
Genetic testing	At baseline	To detect the disease-causing genes of SGA children with short stature