NCT05070234

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.

Trial Health

35
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
150

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Oct 2021

Shorter than P25 for all trials

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

September 27, 2021

Completed
10 days until next milestone

First Posted

Study publicly available on registry

October 7, 2021

Completed
4 days until next milestone

Study Start

First participant enrolled

October 11, 2021

Completed
11 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

August 30, 2022

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

August 30, 2022

Completed
Last Updated

October 7, 2021

Status Verified

September 1, 2021

Enrollment Period

11 months

First QC Date

September 27, 2021

Last Update Submit

September 27, 2021

Conditions

Outcome Measures

Primary Outcomes (1)

  • Genetic testing

    To detect the disease-causing genes of SGA children with short stature

    At baseline

Study Arms (1)

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

Genetic tests in this study are sequential testing, including MS-MLPA, whole exome sequencing, whole genome sequencing, as well as RNA-seq.

short stature children born small for gestational age

Eligibility Criteria

Age2 Years - 20 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodNon-Probability Sample
Study Population

Children's hospical

You may qualify if:

  • 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.

You may not qualify if:

  • 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;

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Biospecimen

Retention: SAMPLES WITH DNA

whole blood

MeSH Terms

Conditions

Silver-Russell SyndromeGenetic Diseases, Inborn

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Craniofacial AbnormalitiesMusculoskeletal AbnormalitiesMusculoskeletal DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesChromosome DisordersDwarfismImprinting Disorders

Intervention Hierarchy (Ancestors)

Clinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisInvestigative TechniquesGenetic TechniquesGenetic ServicesHealth ServicesHealth Care Facilities Workforce and ServicesDiagnostic ServicesPreventive Health Services

Study Officials

  • Chunxiu Gong, doctor

    Beijing Children's Hospital

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Bingyan Cao, doctor

CONTACT

Jiajia Chen, doctor

CONTACT

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
RETROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR INVESTIGATOR
PI Title
Department of Endocrinology, Genetics and Metabolism

Study Record Dates

First Submitted

September 27, 2021

First Posted

October 7, 2021

Study Start

October 11, 2021

Primary Completion

August 30, 2022

Study Completion

August 30, 2022

Last Updated

October 7, 2021

Record last verified: 2021-09

Data Sharing

IPD Sharing
Will not share