Genetic Diagnosis and Human Growth Hormone Treatment in S... | NCT05070234

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

NCT05070234

Sponsor

Chunxiu Gong

Status

Unknown status

Last Update Posted

Oct 7, 2021Actual

Enrollment

150Estimated

Phase

Not provided

Conditions

Small for Gestational Age Infant
Silver-Russell Syndrome
Genetic Diseases, Inborn

Interventions

Blood collection for genetic analysis

Countries

Not provided

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Sep 2021

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Not yet recruiting

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Oct 11, 2021Estimated

Primary Completion Date

Aug 30, 2022Estimated

Completion Date

Aug 30, 2022Estimated

First Submitted Date

Sep 27, 2021

First Submission Date that Met QC Criteria

Sep 27, 2021

First Posted Date

Oct 7, 2021Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Sep 27, 2021

Last Update Posted Date

Oct 7, 2021Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Chunxiu Gong, Department of Endocrinology, Genetics and Metabolism, Beijing Children's HospitalSponsor-Investigator

Lead Sponsor

Chunxiu GongOTHER

Collaborators

Name	Class
Shanghai Children's Hospital	OTHER
Second Affiliated Hospital of Guangzhou Medical University	OTHER
Shenzhen Children's Hospital	OTHER_GOV

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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 provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

150Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
short stature children born small for gestational age		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.	Genetic: Blood collection for genetic analysis

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Blood collection for genetic analysis	Genetic	Genetic tests in this study are sequential testing, including MS-MLPA, whole exome sequencing, whole genome sequencing, as well as RNA-seq.

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Genetic testing	To detect the disease-causing genes of SGA children with short stature	At baseline

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

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

Exclusion Criteria:

No efficacy and safety data were recorded after treatment with rhGH;
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;
Other conditions that the investigator considered unsuitable for inclusion in this study.

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

2 Years

Maximum Age

20 Years

Standard Ages

ChildAdult

Study Population

Children's hospical

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Bingyan Cao, doctor	Contact	13811748954		caoby1982@163.com
Jiajia Chen, doctor	Contact	13810773718		chenjiaj2009@126.com

Overall Officials

Name	Affiliation	Role
Chunxiu Gong, doctor	Beijing Children's Hospital	Principal Investigator

Locations

Not provided

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D056730	Silver-Russell Syndrome
D030342	Genetic Diseases, Inborn

Ancestor Terms

ID	Term
D019465	Craniofacial Abnormalities
D009139	Musculoskeletal Abnormalities
D009140	Musculoskeletal Diseases
D000015	Abnormalities, Multiple

Browse Leaves

Not provided

Browse Branches

Not provided

Intervention Browse Module

MeSH Terms

ID	Term
D005820	Genetic Testing

Ancestor Terms

ID	Term
D019411	Clinical Laboratory Techniques
D019937	Diagnostic Techniques and Procedures
D003933	Diagnosis
D008919	Investigative Techniques

Browse Leaves

Not provided

Browse Branches

Not provided