Proteomic Biomarker Tests in Blood Samples from Children with Autism Spectrum Disorder (ASD)

Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age10-19
SponsorBenjamin Gesundheit

About this trial

Behavioral testing is the gold standard for diagnosing autism spectrum disorder (ASD). These tests, including ADOS and ADI-R, are subjective, require trained staff to administer, are time-consuming, and can only be administered at a later age. Blood-, urine- or stool-based diagnostic biomarker test for ASD would enable objective early diagnosis, potentially even before clinical symptoms are present, eliminate the need for trained staff and enable early intervention. Such a test would not only conserve money and time but would also provide clues to ASD pathogenesis.

To date, no definitive treatment exists for ASD. Most therapies are symptom-focused, generally focusing on behavioral, social and communication skills. Recent works have reported on promising outcomes of mesenchymal stem cell (MSC) treatment of children with ASD. MSCs are multipotent, non-hematopoietic, easily isolatable and expandable stem cells involved in tissue repair, immunomodulatory responses and neuromodulation. MSC treatment of children with ASD has reportedly led to improvements in speech, sociability, eye coordination, balance, cognition and overall well-being. At the base of this approach lies the known plasticity of the human brain and immune system in the early childhood years and the ability of MSCs to modulate atypical inflammatory and immune activities. Assessment of ASD biomarker profiles in children with ASD who have undergone one or more SCT sessions may shed light on the mechanism of action, assist in better defining ASD-specific diagnostic markers and monitor treatment outcomes.

Eligibility criteria

This trial accepts healthy volunteers

Qualifiers

Male and female children

Child aged 2-12 years with diagnosed ASD according to Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV (299.00) or DSM-V (299.00) OR Child aged 2-18 years diagnosed ASD according to DSM-IV (299.00) or DSM-V (299.00) AND scheduled to undergo stem cell transplantation OR Child aged 10-19 months not diagnosed with ASD but with a sibling diagnosed with ASD according to (DSM)-IV (299.00) or DSM-V (299.00) (herein termed "high-risk infants") OR Mothers of recruited high-risk infants OR A typically developing child aged 2-12 years with no signs of ASD or history of ASD in the immediate family

Informed consent signed by the parent/legal guardian

Disqualifiers

Child and/or mother completed treatment with systemic steroids or immune suppressants less than 4 weeks before the screening visit

Child and/or mother diagnosed with severe infectious diseases or sepsis over the last 6 months

Child with ASD treated for a severe convulsive disorder (intractable seizures)

Child and/or mother with hematological or malignant disorder

Trial population

1. Up to a total of 350 male and female children, aged 2-12 years, diagnosed with ASD according to DSM-IV (299.00) or DSM-V (299.00) 2. Up to a total of 350 male and female typically developing (TD) children aged 2-12 years with no signs of ASD or history of ASD in the immediate family who will serve as controls for the main subset of children with ASD 3. Up to 50 infants aged 10-19 months not diagnosed with ASD but with a sibling diagnosed with ASD according to DSM-IV (299.00) or DSM-V (299.00) (herein, high-risk infants) 4. Up to 50 mothers of the high-risk infants participating in the study 5. Up to 50 male and female children, aged 2-12 years, diagnosed with ASD according to DSM-IV (299.00) or DSM-V (299.00) scheduled to undergo stem cell therapy (SCT) 6. Up to 50 male and female children, aged 12-18 years, diagnosed with ASD according to DSM-IV (299.00) or DSM-V (299.00) scheduled to undergo SCT

Trial design

Design model

Case-control

Time perspective

Cross-sectional

Treatments tested in this trial

  • Blood draw

    Diagnostic test

    A blood sample (5 mL) will be collected.

  • Stool Sample Collection

    Diagnostic test

    Subjects will be provided a dry, plastic, screw-top specimen container and will be asked to collect a stool sample at home.

  • Urine Sample Collection

    Diagnostic test

    Subjects will be provided a dry, plastic, screw-top specimen container and will be asked to collect a urine sample at home.

Treatment groups

900 Participants
are divided into 6 treatment groups

6

Treatment groups

See each treatment group below.

Group A: Control Group of Young Children1 intervention
Group B: Young Children-Autism Spectrum Disorder1 intervention
Group C: Young Children-Autism Spectrum Disorder+SCT3 interventions
Group D: High-risk infants2 interventions
Group E: Mothers of high-risk infants1 intervention
Group F: Adolescent-Autism Spectrum Disorder+SCT3 interventions

Trial outcomes

Primary outcomes

1

Identification of discriminating proteomic biomarker profile in blood of children with ASD vs. matched TD children

Finding a proteomic signature in children with ASD

Time frame
One day
2

Identification of discriminating proteomic biomarker profiles in blood of high-risk infants, at recruitment vs. after diagnosis of ASD, if diagnosed

Finding a proteomic signature in infants at high-risk of ASD

Time frame
Up to 5 years after initial blood draw
3

Comparison of blood biomarker profiles in ASD children before versus after SCT

Finding ASD-specific blood proteomic biomarkers that can be modified by SCT

Time frame
Through study completion, up to 6 months

Secondary outcomes

1

ASD severity vs. blood biomarker levels

Correlative assessment of ASD severity vs. blood biomarker levels

Time frame
Through study, up to 5 years, depending on cohort
2

Blood biomarker levels and SCT outcomes

Correlative assessment of blood biomarker levels and SCT outcomes

Time frame
Through study completion, up to 6 months

Other outcomes

1

Identification of ASD-specific proteomic biomarkers and/or microbiome profile in stool samples of children with ASD before vs. after SCT

Identification of an ASD-associated proteomic/microbiome signature that may be altered by SCT

Time frame
Up to 6 months
2

Comparison of urine biomarker profiles in ASD children before versus after SCT

Finding ASD-specific urine proteomic biomarkers that can be modified by SCT

Time frame
Up to 6 months
3

Identification of ASD-specific proteomic biomarker and microbiome signature in stool samples of high-risk infants before vs. after ASD diagnosis, if diagnosed

Finding proteomic biomarker or microbiome signature in stool samples of high-risk infants that changes after diagnosis of ASD

Time frame
Through study completion, up to 5 years
4

Identification of discriminating proteomic profiles in blood of the mothers of high-risk infants

Finding a proteomic signature that can identify mothers at risk of having an ASD child

Time frame
One day

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Benjamin Gesundheit

Lead sponsor

Cell El Ltd

Sponsor institution

Shaare Zedek Medical Center

Collaborator