We are conducting an observational study to accumulate quantitative serotonin levels and neuroinflammatory genetic data from ASD/FXS patients in order to establish a “Diagnostic Index” – an objective set of tools that helps to differentiate subtypes of ASD, as well as FXS, and to develop more accurate methods of diagnosis and treatment.
ASD/FXS are ideal candidates for this study because a large definitive study is needed to reconcile uncertainty in the literature surrounding genetic neuroinflammatory biomarkers and serotonergic signaling in these conditions.
This study will compare the neuroinflammatory mRNA genetic profile obtained from cheek cells across the spectrum of ASD/FXS, as well as investigate the correlation between the mRNA genetic profile, serotonergic signaling, behavioural abnormalities and symptom severity. The high granularity of data analytics proposed in this study will inform existing diagnostic and treatment paradigms and improve quality of care for the patient.
Patient samples will include cheek cells and saliva. The measurements will be compared with those from age-matched neurotypical controls. Participation in this is study is free of charge.
We will evaluate the correlation between neuroinflammatory genetic biomarkers, serotonin levels and behavioural data in an effort to uncover novel and meaningful ways to diagnose and treat ASD and FXS, which is particularly relevant for statistical separation between the multitude of ASD subtypes, currently differentiated rather crudely, based on behavioural analysis.
Collected data will be analyzed using customized machine learning algorithms and used to guide design of upcoming clinical trials that will test the efficacy of psilocybin-based therapeutics in ASD and FXS. Patients enrolled in this study will have a high priority position to be enrolled in the subsequent therapeutic study for ASD and FXS.
We are aiming to recruit at least 300 qualifying participants; 200+ ASD/FSX patients under the age of 21 and 100+ neurotypical controls. Subjects will have an existing FSX or ASD diagnosis of moderate-severe and will undergo a short, standardized intake interview to assess developmental milestones and behavioural patterns.
Participants will be mailed two sample kits: (1) a buccal swab (cheek cells) collection kit and (2) a saliva (spit) collection kit. Each collection kit comes with instructions and includes all the items needed for proper specimen collection, storage and shipment back to our lab.
People who are interested in participating in the study are asked to fill out our enrollment form. Selected participants will be sent a questionnaire about your (your child’s) habits and behaviours, along with a Health Insurance Portability and Accountability Act (HIPAA) release, a study protocol document that describes how the research will be conducted, and an informed consent document, which provides additional information about the study so you can make an informed decision about your participation.
Participation in this is study is free of charge and there is no deadline to enroll at this time. We are aiming to start collecting samples by winter 2022.
No, you will not have to pay to mail the kits back. We will include pre-paid and pre-labelled packaging to return the samples. A courier company will pick up the completed kits from your home. Or, you can drop them off at your local courier facility.
No, you will not have to pay to mail the kits back. We will include pre-paid and pre-labelled packaging to return the samples. A courier company will pick up the completed kits from your home.
Collected samples will be mailed to selected locations/laboratories by the parent/guardian and stored appropriately (-20C, -80C). Upon arrival at the testing facility, samples will be stored and analyzed simultaneously to reduce data variability.
Collected data will be analyzed using customized machine learning algorithms, trained to identify cluster patterns and emphasize minor differences between sub-groups of ASD and FXS.
Correlation between neuroinflammatory genetic biomarkers, serotonin levels and behavioural data will be evaluated in an effort to uncover novel and meaningful ways to diagnose and treat ASD and FXS, which is particularly relevant for statistical separation between the multitude of ASD subtypes, currently differentiated rather crudely, based on behavioural analysis.
The study aims to address an unresolved question in ASD research: how to differentiate between and stratify complex ASD phenotypes? Behavioural subtyping is crude, subject to observer bias, and largely unable to diagnose and treat with high accuracy and efficacy. Findings surrounding microbial diversity in ASD are inconsistent across studies and require large-scale sample collection. Cross-correlation with additional types of data (included herein in the form of buccal swabs and genetic analysis) would inform subtle differentiation of ASD subtypes, further optimizing diagnostics and treatment.
The research will help stratify children with ASD autism according to subtle differences in mRNA neuroinflammatory biomarkers, serotonin signaling and behaviour. Doing so, will improve ASD diagnostics but also, perhaps more importantly, improve the quality of life for these individuals, as better treatments can be identified and administered effectively.
Yes, your (your child’s) personal information will be protected. The collection kits are appropriately labelled to remove personal information. The study is compliant under the Health Insurance Portability and Accountability Act (HIPAA), which sets the standard for protection of sensitive patient data. Only patients, family and Nova’s scientists will be able to access the data. If formally requested by the participant, results can also be shared with personal physicians.
The study has been approved by an Institutional Review Board (IRB) in the United States, with pending approval in Canada. IRBs are ethics committees designed to help the Food and Drug Administration (FDA) and other regulatory agencies ensure that companies employ rigorous protocol standards and adhere to strict regulations surrounding the ethical treatment of human subjects.
If you want more information about our research program, please email us or call us at 1-888-505-NOVA (6682). We look forward to hearing from you!