Pan African Clinical Trials Registry
South African Medical Research Council, South African Cochrane Centre
PO Box 19070, Tygerberg, 7505, South Africa
Telephone: +27 21 938 0506 / +27 21 938 0834 Fax: +27 21 938 0836
Email: pactradmin@mrc.ac.za Website: pactr.samrc.ac.za
Trial no.: PACTR201705002282393 Date of Approval: 10/05/2017
Trial Status: Registered in accordance with WHO and ICMJE standards
TRIAL DESCRIPTION
Public title The role of epigenetic modifications in autism
Official scientific title The role of epigenetic modifications in autism spectrum disorder through DNA methylation
Brief summary describing the background and objectives of the trial Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by impaired social communication and repetitive or stereotyped behaviors (Vuong and Hsiao, 2017). According to the World Health Organization (WHO), the prevalence of ASD is one person in 160 (Bahi, 2016). Genetic and non-genetic factors would contribute to the development of autism (Paternain et al., 2016). However, the role of epigenetic changes in ASD is still debated. Epigenetic mechanisms represent a link through which environmental factors interact with the genetic factors resulting in modification of ASD risk through changes in gene expression. DNA methylation and histone deacetylation are two major epigenetic mechanisms that regulate the gene expression at successive stages of brain development (Paternain et al., 2016). Brain derived neurotrophic factor (BDNF) is responsible for brain development. Although altered BDNF expression (Bahi, 2016) may be closely associated with ASD, the underlying mechanisms are poorly understood. Glial fibrillary acidic protein (GFAP) is the hallmark intermediate filament protein in astrocytes. Interestingly, the recent data indicated that GFAP could be implicated in the pathophysiology of autism (Wang et al., 2017). We will assess the following objectives: 1) To demonstrate the role of altered BDNF and GFAP DNA methylation as pathophysiological mechanism of ASD. 2) To investigate correlation of BDNF and GFAP gene methylation with the severity of symptoms of ASD children.
Type of trial CCT
Acronym (If the trial has an acronym then please provide)
Disease(s) or condition(s) being studied Autism spectrum disorder,Nervous System Diseases
Sub-Disease(s) or condition(s) being studied
Purpose of the trial Diagnosis / Prognosis
Anticipated trial start date 10/09/2017
Actual trial start date
Anticipated date of last follow up 10/09/2018
Actual Last follow-up date
Anticipated target sample size (number of participants) 40
Actual target sample size (number of participants)
Recruitment status Not yet recruiting
Publication URL
Secondary Ids Issuing authority/Trial register
STUDY DESIGN
Intervention assignment Allocation to intervention If randomised, describe how the allocation sequence was generated Describe how the allocation sequence/code was concealed from the person allocating the participants to the intervention arms Masking If masking / blinding was used
Crossover: all participants receive all interventions in different sequence during study Non-randomised Open-label(Masking Not Used)
INTERVENTIONS
Intervention type Intervention name Dose Duration Intervention description Group size Nature of control
Control Group DNA Methylation-and quantitative Real-time PCR (RT-PCR) Analysis DNA will be isolated from lymphocytes, Quantitative real time PCR will be used to determine the DNA methylation status of the BDNF and GFAP gene using primers specific to the human BDNF and GFAP genes. 20 Uncontrolled
Experimental Group Gilliam Autism Rating Scale Arabic version: An assessment of the severity of autism using the Gilliam autism rating scale (GARS) Arabic version: This test was used for diagnosis and assessment of the severity of autistic features for ages 3-22 years (Gilliam, 1995). It consists of 56 items, subdivided into 4 subscales: communication, social interaction, stereotyped behaviors, development and total score. 20
ELIGIBILITY CRITERIA
List inclusion criteria List exclusion criteria Age Category Minimum age Maximum age Gender
a. Inclusion criteria: All enrolled children with ASD will be: 1- Exhibit symptoms within the typical triad of autistic traits: communication impairment, social deficits, and ritualistic interests. 2- 2-6 years old. 3- Drug-naïve. b. Exclusion criteria: The control subjects will also clinically examined by the psychiatrist to exclude any sub-clinical autistic features. Children with ASD and controls will excluded from the study if 2- They receive treatment for any reason. 3- -Endocrinological disease, mental retardation, communication disorder, psychotic disorder, attention deficit hyperactivity disorder and learning disorders seen in the children or their family members. 2 Year(s) 6 Year(s) Both
ETHICS APPROVAL
Has the study received appropriate ethics committee approval Date the study will be submitted for approval Date of approval Name of the ethics committee
Yes 30/03/2017 Assiut Medical School Ethical Review Board
Ethics Committee Address
Street address City Postal code Country
Assiut University Assiut Egypt
OUTCOMES
Type of outcome Outcome Timepoint(s) at which outcome measured
Primary Outcome The difference in mean percentage of gene methylation. after statistical analysis
RECRUITMENT CENTRES
Name of recruitment centre Street address City Postal code Country
Faculty of Medicine, Medical physioogy department Assiut university Assiut Egypt
FUNDING SOURCES
Name of source Street address City Postal code Country
the Vice Dean Research Office, faculty of medicine Assiut University Assiut university Assiut Egypt
SPONSORS
Sponsor level Name Street address City Postal code Country Nature of sponsor
Primary Sponsor the Vice Dean Research Office. Assiut university Assiut Egypt University
Primary Sponsor the Vice Dean Research Office, faculty of medicine Assiut University, faculty of medicine , Assiut University Assiut university Assiut Egypt University
COLLABORATORS
Name Street address City Postal code Country
Neurology and Psychiatry Department Assiut university Assiut Egypt
CONTACT PEOPLE
Role Name Email Phone Street address
Principal Investigator Omyma Galal omyma_galal@hotmail.com 01006807029 Elmaktabat street, Assiut University
City Postal code Country Position/Affiliation
Assiut Egypt
Role Name Email Phone Street address
Principal Investigator Rasha Mohammed rasha.mohamed94@yahoo.com 01013200350 Elmaktabat street, Assiut University
City Postal code Country Position/Affiliation
Assiut Egypt
Role Name Email Phone Street address
Public Enquiries Nesreen Mahmoud drnessren82@yahoo.com 01003248010 Elmaktabat street, Assiut University
City Postal code Country Position/Affiliation
Assiut Egypt
Role Name Email Phone Street address
Scientific Enquiries Eman Sayyed eman_sayyed2@yahoo.com.com 01123392260 Elmaktabat street, Assiut University
City Postal code Country Position/Affiliation
Assiut Egypt
REPORTING
Share IPD Description Additional Document Types Sharing Time Frame Key Access Criteria
URL Results Available Results Summary Result Posting Date First Journal Publication Date
Result Upload 1: Result Upload 2: Result Upload 3: Result Upload 4: Result Upload 5:
Result URL Hyperlinks Link To Protocol
Result URL Hyperlinks
Changes to trial information