Effectiveness of Recombinant Human Growth Hormone Therapy for Children With PMS

Study Overview
=================
Brief Summary
-----------------
In summary, this piot study with 6 participants shown that recombinant human growth hormone (rhGH) has a positive effect on the treatment with PMS. In addition, This study indicated that rhGH can improve PMS symptoms via increase the level of serum insulin-like growth factor-1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3). RhGH may be low cost, more accessible, alternative treatment for PMS.

Detailed Description
-----------------
Compared with the placebo, rhGH treatment significantly decreased the total scores and subscale scores of GDS (P <0.05), while the total scores and subscale scores of SC-ABC significantly decreased (P < 0.05) following three-months rhGH treatment. The similar results were also observed in comparison with baseline. Compared with the baseline, the level of serum IGF-1 and IGFBP-3 increased significantly (P < 0.05) following three-months rhGH treatment, while the placebo group had no significant impact on serum IGF-1 and IGFBP-3 (P > 0.05). One participant developed skin allergy the day after the first rhGH treatment, which were resolved later.

Official Title
-----------------
Effectiveness of Recombinant Human Growth Hormone Therapy for Children With Phelan-McDermid Syndrome: An Open-label, Cross-over, Preliminary Study

Conditions
-----------------
Phelan-McDermid Syndrome, Growth Hormone Treatment

Intervention / Treatment
-----------------
* Drug: recombinant human growth hormone
* Drug: Saline


Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria: Patients diagnosed with PMS aged from 1years to 5 years Exclusion Criteria: - active or suspected tumour, intracranial hypertension, chronic kidney disease, acute proliferative or severe nonproliferative diabetic retinopathy, allergy to rhGH or severe comorbidity

Ages Eligible for Study
-----------------
Minimum Age: 1 Year
Maximum Age: 5 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
Accepts Healthy Volunteers

Study Plan
=================
How is the study designed?
-----------------

Design Details

Primary Purpose: Treatment
Allocation: Randomized
Intervention Model: Crossover Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Placebo Comparator: Group A<br>Subjects were randomly divided into two different groups. Group A began with placebo while group B with rhGH. Randomisation of the treatment order (i.e., starting with rhGH or placebo) was done through a permuted four-block designed by the physician, who was the only one not blinded for treatment allocation. | Drug: Saline<br>* Saline was started at 0.1 IU/kg once daily as the placebo<br>|
| Experimental: Group B<br>Subjects were randomly divided into two different groups. Group A began with placebo while group B with rhGH. Randomisation of the treatment order (i.e., starting with rhGH or placebo) was done through a permuted four-block designed by the physician, who was the only one not blinded for treatment allocation. | Drug: recombinant human growth hormone<br>* RhGH treatment was started at 0.1 IU/kg once daily<br>* Other names: rhGH (Changchun Jinsai Pharmaceutical Co., Ltd, S20080011);|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| level of serum IGF-1 and IGFBP-3 | All laboratory indices were completed in the morning while the participants fasted and were analysed by the laboratory of the investigators' hospital. | 3 months | 
| Chinese version of the Gesell Development Scale (GDS) | To measure neuropsychological development. The development quotient (DQ) in the GDS was used to quantify neurodevelopment, which can indicate the level of neurodevelopment and is interpreted as follows: DQ=86 as normal, DQ 76 to 85 as marginally delayed, DQ at 55-75 as slightly delayed, DQ at 40 to 54 as moderately delayed, and DQ⩽39 as severely delayed. | 3 months | 
| Simplified Chinese version of the Aberrant Behavior Checklist (SC-ABC) | Different from its English version that created by Krug in 1980 , SC-ABC was based on the study of Krug in 2009, in which proved ABC can be used in 14 months children, then it was translated into Simplified Chinese by the researchers of Peking University Sixth Hospital. To date, the SC-ABC scale has been verified and widely used for more than 10 years to assess the changes of symptoms in Chinese children aged from 14 months to 14 years old with behavioral problems. This checklist includes 57 items and five subscales: sensory behavior, social relating, body and object use, language and communication skills, and social and adaptive skills. Each item was scored from 0 to 3,with higher scores indicate more severe symptoms. | 3 months | 
| Adverse events | Adverse events (AEs) were measured during the trial during via monitoring visits or phone calls using an adapted semi-structured interview every two weeks | 3 months | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
Phelan-McDermid Syndrome, Growth Hormone Treatment, cross-over, Placebo-controlled