Establishing a Diagnostic and Therapeutic Index in Autism Spectrum Disorder (ASD) and Fragile X Syndrome

The purpose of this study is to accumulate and quantitatively analyze data on the microbiome, serotonin signaling and genetics, and inflammatory cytokines from patients with Autism Spectrum Disorder and Fragile X Syndrome. Computational analysis of multi-dimensional datasets will be used to establish a "Diagnostic and Therapeutic Index" - an objective set of tools that can help differentiate subtypes of Autism Spectrum Disorder and develop more accurate methods of diagnosis and response to treatment.

Study Overview

• Status: Recruiting
• Conditions: Autism Spectrum Disorder; Fra(X) Syndrome
• Intervention / Treatment: Other: specimen collection

• Study Type: Observational
• Enrollment (Anticipated): 300

Contacts and Locations

• Study Contact: Name: Julia V Perederiy, PhD; Phone Number: 888-505-NOVA; Email: clinicaltrials@novamentis.ca

Study Locations

• United States
  • Florida
    • Fort Lauderdale, Florida, United States, 33316
      • Recruiting
      • Broward Health Medical Center
      • Contact: Mikhail Mirer, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 6 months to 21 years (Child, Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Autism Spectrum Disorder (ASD) and Fragile X Syndrome are neurodevelopmental disorders characterized by repetitive behavioral patterns, hypersensitivity, and persistent deficits in social communication. ASD is currently diagnosed exclusively on the basis of neurobehavioral patterning - an approach that (1) cannot distinguish subtle differences between ASD subtypes, (2) is subject to observer bias, and (3) introduces uncertainty regarding root causes and response to treatments. Developmental disorders are often accompanied by various co-occurring medical conditions like gastrointestinal dysfunction or anemia, which can be leveraged to sub-segment the autisms spectrum and improve diagnostics and treatment. Further investigation is needed to define the degree to which specific comorbidities contribute to behavioral symptomology.

Description

Inclusion Criteria:

• Early childhood (pre-diagnosis) OR existing ASD diagnosis (Moderate to Severe)
• Existing FXS diagnosis

Exclusion Criteria:

• Hospitalization
• Enrolled in another clinical study

Study Plan

How is the study designed?

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Autism Spectrum Disorder (ASD); Early childhood (pre-diagnosis) OR existing diagnosis of moderate/severe ASD	Other: specimen collection; participants will submit at minimum two of four required samples: fecal, urine, finger/toe-prick blood, and cheek swab, collected at home via commercially available kits
Fragile X Syndrome (FXS); Existing diagnosis of Fragile X Syndrome	Other: specimen collection; participants will submit at minimum two of four required samples: fecal, urine, finger/toe-prick blood, and cheek swab, collected at home via commercially available kits
Healthy Controls; No diagnosed chronic conditions	Other: specimen collection; participants will submit at minimum two of four required samples: fecal, urine, finger/toe-prick blood, and cheek swab, collected at home via commercially available kits

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
microbial diversity profile	genetic analysis of microbial species in fecal samples	2 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
differences in serotonin levels	molecular analysis of blood/urine/fecal samples	2 years
differential expression of serotonin-related signaling molecules	genetic analysis of cheek swabs	2 years

Collaborators and Investigators

• Sponsor: Nova Mentis Life Science Corp
• Collaborators: FourthWall Testing
• Investigators: Principal Investigator: Julia V Perederiy, PhD, Nova Mentis Life Science Corp

Study record dates

Study Major Dates

• Study Start (Anticipated): November 1, 2021
• Primary Completion (Anticipated): November 1, 2022
• Study Completion (Anticipated): May 1, 2023

Study Registration Dates

• First Submitted: April 28, 2021
• First Submitted That Met QC Criteria: April 28, 2021
• First Posted (Actual): May 3, 2021

Study Record Updates

• Last Update Posted (Actual): October 13, 2021
• Last Update Submitted That Met QC Criteria: October 5, 2021
• Last Verified: October 1, 2021

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Mental Disorders; Pathologic Processes; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Mental Retardation, X-Linked; Intellectual Disability; Heredodegenerative Disorders, Nervous System; Neurodevelopmental Disorders; Chromosome Disorders; Sex Chromosome Disorders; Syndrome; Autistic Disorder; Autism Spectrum Disorder; Child Development Disorders, Pervasive; Fragile X Syndrome
• Other Study ID Numbers: NM101

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