Down SyndromeNCT03087500
Physiological Abnormalities Associated with Down Syndrome
An observational study of Down Syndrome, run by University of Arkansas.
Trial summary
The overall goal of this study is to evaluate biomarkers of oxidative stress, mitochondrial function, and DNA methylation (epigenetics) in order to determine the extent to which these biomarkers are related to cognitive, behavioral and adaptive function in Down Syndrome. Read more about this study
- Who is it for?
- Ages 3 to 50 years
- Conditions the study is for
- Down Syndrome
- What is being tested?
- There is no other intervention, only clinical treatment.
- How many people
- 0 participants
- Where
- No sites listed yet
- Study dates
- 1 Oct 2017to Dec 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 to 50 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Downs Syndrome: 120 clinically confirmed full trisomy 21, age 3-50 years of both sexes will be recruited as the target study population. Half of the individuals (n=60) will be children (3-17 years of age) while half (n=60) will be adults (18-50 years of age) Control Subjects: 60 typically developing individuals age 3-50, age and gender matched to at least one participant with DS. Half of the controls (n=30) will be age and gender match to children with DS and half (n=30) will be age and gender matched to adults with DS.
Who may be able to join
- 1. Participant or guardian ability to consent/assent and willing to comply with protocol requirements
Who cannot join
- Trisomy translocation or mosaics.
- Untreated hypothyroidism
- Known history of liver disease, renal disease, Hepatitis B or C or HIV
- Recent infection with fever or requiring hospitalization within past 30 days.
- Any medical condition, use of medications, nutrient or herbal supplements that would interfere with the study results as determined by the PI
- Chemotherapy
Show all 12Show fewer
- Recent surgery (within 2 months)
- Untreated Epilepsy
- Any chronic medical/behavioral condition and/or treatments that may interfere with study related outcomes, as determined by PI
- Dementia
- History of a significant adverse reaction to a prior blood draw
- Any other historical event/information that may, in the opinion of the PI, be a reason to exclude the child from participation.
About this study
Official title: Physiologic Biomarkers Within the Functional Spectrum of Down Syndrome
The overall goal of this study is to evaluate biomarkers of oxidative stress, mitochondrial function, and DNA methylation (epigenetics) in order to determine the extent to which these biomarkers are related to cognitive, behavioral and adaptive function in Down Syndrome. The inter-relationship between measurable biomarkers and functional/cognitive abilities will move beyond genetics to provide unprecedented new knowledge and a broader understanding of the underlying pathophysiology and abnormal gene expression induced by trisomy 21.
Read the detailed description
The Investigators preliminary evidence indicates that people with DS have metabolic biomarkers associated with oxidative stress (GSH/GSSG) and reduced methylation capacity (SAM/SAH) as well as abnormal DNA methylation (epigenetics). The investigative team hypothesize that these abnormal metabolic processes contribute to abnormalities in behavior and development associated with trisomy 21; this connection has never been investigated. Confirming and expanding on the preliminary data would provide new understanding of the biological and functional etiology of the behavioral and developmental delays associated with Trisomy 21. Further, establishing the underlying relationship between metabolic abnormalities and behavioral/cognitive function over the age spectrum can provide strong support for the design of future treatments of individuals with DS aimed at improving their behavior and development. In addition, these biomarkers may also prove to be predictive biomarkers for the risk of developing ASD like behaviors or Alzheimer's disease in this population. Finally, examining the modulating role of diet in the severity of biological abnormalities will provide new information for lifestyle guidance to improve biomarkers and potentially minimize the medical co-morbidities associated with trisomy 21.
- Conditions
- Down Syndrome
- Being tested
- There is no other intervention, only clinical treatment.
- Keywords
- Down Syndrome, Typically Developing Participants, Children, Adolescents, Adults
- Medical subject headings
- Down Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
There is no other intervention, only clinical treatment.Other
There is no other intervention, only clinical treatment.
| Study group | Role | What they receive |
|---|---|---|
| Down Syndrome (DS) | 120 clinically confirmed full trisomy 21, age 3-50 years of both sexes will be recruited as the target study population. Half of the individuals (n=60) will be children (3-17 years of age) while half (n=60) will be adults (18-50 years of age) Receives: Other: There is no other intervention, only clinical treatment. | |
| Typically Developing Controls | 60 typically developing individuals age 3-50, age and gender matched to at least one participant with DS. Half of the controls (n=30) will be age and gender match to children with DS and half (n=30) will be age and gender matched to adults with DS. Receives: Other: There is no other intervention, only clinical treatment. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Microbiome Analysis
Stool will be collected for Microbiome Analysis on cases and controls
Measured: 2 years
Mitochondrial Function Analysis
The Seahorse XR extracellular flux analyzer will be used to measure mitochondrial function in cases and controls
Measured: 2 years
Oxidative Stress Analysis
Thiol measurements will be collected and analyzed between cases and controls
Measured: 2 years
Immune Function
Salivary measurements of cytokines will be collected on cases and controls
Measured: 2 years
Metabolomics
Urine will be collected for metabolomics analysis on cases and controls
Measured: 2 years
Epigenetics
Epigenetics will be evaluated on cases and controls
Measured: 2 years
Folate Receptor Alpha Autoantibody (FRAA)
Serum will be collected for FRAA analysis on cases and controls
Measured: 2 years
Thyroid Function
Thyroid measures of Thyroid Stimulating Hormone (TSH), T3, Reverse T3 and free and total T4 will be evaluated on cases and controls
Measured: 2 years
Diet
Examine the modulating role of diet in the severity of biological abnormalities will provide new information for lifestyle guidance to improve biomarkers and potentially minimize the medical co-morbidities associated with trisomy 21. Dietary contributions will be evaluated on cases and controls
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Mar 2017
- Study start1 Oct 2017
- Primary completion1 Oct 2017
- Study completionDec 2019 (estimated)
Why it stopped: Funding fell through
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Down SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Arkansas
- Sponsor type
- University, hospital or other
- Collaborators
- Down Syndrome Research Foundation, Arkansas Children Research Institute
- Responsible party
- Sponsor
- Investigators
- Richard Frye, Principal investigator, Arkansas Childrens Research Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03087500
- Sponsor's protocol ID
- 206522
- Status last verified
- Oct 2017
- First submitted
- 9 Mar 2017
- Last updated
- 3 Sep 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Sep 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Physiologic Biomarkers Within the Functional Spectrum of Down Syndrome
- ClinicalTrials.gov ID
- NCT03087500
- Acronym / sponsor ID
- 206522
- Conditions
- Down Syndrome
- Keywords
- Down Syndrome, Typically Developing Participants, Children, Adolescents, Adults
- Study type
- Observational
- Recruitment status
- WithdrawnReason stopped: Funding fell through
- Enrolment
- 0 participants (actual)
- Lead sponsor
- University of ArkansasUniversity, hospital or other
- Collaborators
- Down Syndrome Research Foundation, Arkansas Children Research Institute
- Study start
- 1 Oct 2017 (actual)
- Primary completion
- 1 Oct 2017 (actual)
- Study completion
- Dec 2019 (estimated)
- First posted
- 22 Mar 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The overall goal of this study is to evaluate biomarkers of oxidative stress, mitochondrial function, and DNA methylation (epigenetics) in order to determine the extent to which these biomarkers are related to cognitive, behavioral and adaptive function in Down Syndrome. The inter-relationship between measurable biomarkers and functional/cognitive abilities will move beyond genetics to provide unprecedented new knowledge and a broader understanding of the underlying pathophysiology and abnormal gene expression induced by trisomy 21.
Detailed description
The Investigators preliminary evidence indicates that people with DS have metabolic biomarkers associated with oxidative stress (GSH/GSSG) and reduced methylation capacity (SAM/SAH) as well as abnormal DNA methylation (epigenetics). The investigative team hypothesize that these abnormal metabolic processes contribute to abnormalities in behavior and development associated with trisomy 21; this connection has never been investigated. Confirming and expanding on the preliminary data would provide new understanding of the biological and functional etiology of the behavioral and developmental delays associated with Trisomy 21. Further, establishing the underlying relationship between metabolic abnormalities and behavioral/cognitive function over the age spectrum can provide strong support for the design of future treatments of individuals with DS aimed at improving their behavior and development. In addition, these biomarkers may also prove to be predictive biomarkers for the risk of developing ASD like behaviors or Alzheimer's disease in this population. Finally, examining the modulating role of diet in the severity of biological abnormalities will provide new information for lifestyle guidance to improve biomarkers and potentially minimize the medical co-morbidities associated with trisomy 21.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Down Syndrome (DS) | – | Other: There is no other intervention, only clinical treatment.120 clinically confirmed full trisomy 21, age 3-50 years of both sexes will be recruited as the target study population. Half of the individuals (n=60) will be children (3-17 years of age) while half (n=60) will be adults (18-50 years of age) |
| Typically Developing Controls | – | Other: There is no other intervention, only clinical treatment.60 typically developing individuals age 3-50, age and gender matched to at least one participant with DS. Half of the controls (n=30) will be age and gender match to children with DS and half (n=30) will be age and gender matched to adults with DS. |
Who may qualify
- Ages
- 3 to 50 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Downs Syndrome: 120 clinically confirmed full trisomy 21, age 3-50 years of both sexes will be recruited as the target study population. Half of the individuals (n=60) will be children (3-17 years of age) while half (n=60) will be adults (18-50 years of age) Control Subjects: 60 typically developing individuals age 3-50, age and gender matched to at least one participant with DS. Half of the controls (n=30) will be age and gender match to children with DS and half (n=30) will be age and gender matched to adults with DS.
Key inclusion criteria (1 listed)
- 1. Participant or guardian ability to consent/assent and willing to comply with protocol requirements
Key exclusion criteria (12 listed)
- Trisomy translocation or mosaics.
- Untreated hypothyroidism
- Known history of liver disease, renal disease, Hepatitis B or C or HIV
- Recent infection with fever or requiring hospitalization within past 30 days.
- Any medical condition, use of medications, nutrient or herbal supplements that would interfere with the study results as determined by the PI
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| There is no other intervention, only clinical treatment.There is no other intervention, only clinical treatment. | Other | Down Syndrome (DS), Typically Developing Controls |
Primary outcome
Microbiome Analysis
Time frame: 2 years
Stool will be collected for Microbiome Analysis on cases and controls
Mitochondrial Function Analysis
Time frame: 2 years
The Seahorse XR extracellular flux analyzer will be used to measure mitochondrial function in cases and controls
Oxidative Stress Analysis
Time frame: 2 years
Thiol measurements will be collected and analyzed between cases and controls
Immune Function
Time frame: 2 years
Salivary measurements of cytokines will be collected on cases and controls
Metabolomics
Time frame: 2 years
Urine will be collected for metabolomics analysis on cases and controls
Epigenetics
Time frame: 2 years
Epigenetics will be evaluated on cases and controls
Folate Receptor Alpha Autoantibody (FRAA)
Time frame: 2 years
Serum will be collected for FRAA analysis on cases and controls
Thyroid Function
Time frame: 2 years
Thyroid measures of Thyroid Stimulating Hormone (TSH), T3, Reverse T3 and free and total T4 will be evaluated on cases and controls
Diet
Time frame: 2 years
Examine the modulating role of diet in the severity of biological abnormalities will provide new information for lifestyle guidance to improve biomarkers and potentially minimize the medical co-morbidities associated with trisomy 21. Dietary contributions will be evaluated on cases and controls
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Sep 2024.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Richard Frye principal investigator
Arkansas Childrens Research Institute
Questions about this trial
What is this clinical trial studying?
An observational study of Down Syndrome, run by University of Arkansas.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 12 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: withdrawn, as of the sponsor's last update on 3 Sep 2024. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was withdrawn before enrolling participants, so there are no results.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Microbiome Analysis (time frame: 2 years). The study lists 9 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Sep 2024.