Effectiveness of Recombinant Human Growth Hormone Therapy for Children With PMS

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

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.

Study Overview

• Status: Completed
• Conditions: Growth Hormone Treatment; Phelan-McDermid Syndrome
• Intervention / Treatment: Drug: Saline; Drug: recombinant human growth hormone

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.

• Study Type: Interventional
• Enrollment (Actual): 6
• Phase: Phase 2; Phase 1

Contacts and Locations

Study Locations

• China
  • Jiangsu
    • Wuxi, Jiangsu, China, 226600
      • Affiliated Hospital of JiangNan University, Department of Pediatrics

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 year to 5 years (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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

Study Plan

How is the study designed?

Design Details

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

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Placebo Comparator: Group A; 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; Saline was started at 0.1 IU/kg once daily as the placebo
Experimental: Group B; 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; RhGH treatment was started at 0.1 IU/kg once daily; 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

Collaborators and Investigators

• Sponsor: Affiliated Hospital of Jiangnan University
• Investigators: Study Director: YueYing Liu, Phd, Affiliated Hospital of Jiangnan University

Study record dates

Study Major Dates

• Study Start (Actual): June 14, 2020
• Primary Completion (Actual): May 12, 2021
• Study Completion (Actual): June 8, 2021

Study Registration Dates

• First Submitted: October 25, 2021
• First Submitted That Met QC Criteria: October 25, 2021
• First Posted (Actual): November 3, 2021

Study Record Updates

• Last Update Posted (Actual): October 10, 2022
• Last Update Submitted That Met QC Criteria: October 7, 2022
• Last Verified: October 1, 2022

More Information

Terms related to this study

• Keywords: Placebo-controlled; cross-over; Phelan-McDermid Syndrome; Growth Hormone Treatment
• Additional Relevant MeSH Terms: Pathologic Processes; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Chromosome Aberrations; Aneuploidy; Monosomy; Syndrome; Chromosome Disorders; Chromosome Deletion; Physiological Effects of Drugs; Hormones, Hormone Substitutes, and Hormone Antagonists; Hormones
• Other Study ID Numbers: 395779225

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No