Autism Spectrum DisordersPhase 1MitoASDNCT02348125
Does Clinical Treatment of Mitochondrial Dysfunction Impact Autism Spectrum Disorder (ASD)?
A Phase 1 study testing Mitochondrial Cocktail in people with Autism Spectrum Disorders and Mitochondrial Diseases, run by Drexel University at 1 site in United States.
Trial summary
In this study, 50 children between 3 and 12 years old with formally diagnosed autistic spectrum disorders (ASD) and also having significant mitochondrial dysfunction will be treated for a 3 month period with the Mitochondrial Cocktail, a combination of specific nutritional supplements and metabolite intermediates… Read more about this study
- Who is it for?
- Ages 3 to 12 years
- Conditions the study is for
- Autism Spectrum Disorders, Mitochondrial Diseases
- What is being tested?
- Mitochondrial Cocktail
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 50 participants
- Where
- 1 siteUnited States
- Study dates
- Mar 2016to Jun 2017
- Phase
- Phase 1
- 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 12 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Subject/legal representative is considered reliable and capable of adhering to the protocol (e.g., able to understand and complete diaries), visit schedule, and medication intake according to the judgment of the investigator.
- .
- Subject has a formal diagnosis of autistic spectrum disorders (ASD). the ASD diagnosis will satisfy the DSM- V criteria for ASD, and will be broad-spectrum including both severe and milder cases.
- All subjects will have either suspected mitochondrial dysfunction as assessed by clinical evaluation, mitochondrial dysfunction as defined by the presence of significant abnormalities in their buccal mitochondrial respiratory complex activities (i.e., with either respiratory complex I or complex IV deficiencies) or have significantly aberrant specific activity ratios. Subjects with significant deficiencies in either muscle or skin fibroblast respiratory activities will also be included in those cases if buccal mitochondrial respiratory enzyme activity testing has not been performed.
Who cannot join
- Subject has any medical or psychiatric condition that, in the opinion of the investigator, could jeopardize or would compromise the subject's ability to participate in this study.
- Subject has a medical condition that could be expected in the opinion of the investigator to interfere with drug absorption, distribution, metabolism, or excretion.
- Subject is on a ketogenic or other specialized diet. If the subject was on a specialized diet in the past, they must be off the diet for ≥2 months prior to the Baseline Period.
- Subject has an acute or sub-acutely progressive central nervous system disease.
- Subject has major brain deformation or severe cognitive dysfunction.
- Subjects with epilepsy needing to take anti-seizure medications will be excluded.
Trial locations and contacts
1 site in 1 country.
United States1 site, 1 recruiting
- Recruiting
St. Christopher's Hospital for Children
Philadelphia, Pennsylvania, 19134
Michael J Goldenthal, PhD, 215-427-6786, michael.goldenthal@drexelmed.edu
About this study
In this study, 50 children between 3 and 12 years old with formally diagnosed autistic spectrum disorders (ASD) and also having significant mitochondrial dysfunction will be treated for a 3 month period with the Mitochondrial Cocktail, a combination of specific nutritional supplements and metabolite intermediates (including anti-oxidants) and bio-energy substrates. A series of neurological and psychological evaluations will be conducted by trained evaluators/clinicians to evaluate both the severity and the clinical presentation of the ASD/mitochondrial dysfunction with each subject at baseline prior to treatment, after the 3 month treatment and again at 6 months, after another 3 month non-treatment period. In addition, laboratory investigations will be conducted at the same time-points to assess the mitochondrial dysfunction and cellular biomarkers thought to be associated with autistic and mitochondrial disorders. These investigations will include the analysis of samples of blood and cheek/buccal swabs collected from each child to assess select biochemical markers of ASD. The Mitochondrial Cocktail treatment will be administered at home once a day continuously for a total of 3 months. All the children in the study will be treated with the same Mitochondrial Cocktail (an open label study).
Read the detailed description
In this study, 50 children between 3 and 12 years old with formally diagnosed autistic spectrum disorders (ASD) and also having significant mitochondrial dysfunction will be treated for a 3 month period with the Mitochondrial Cocktail, a combination of specific nutritional supplements and metabolite intermediates (including anti-oxidants) and bio-energy substrates. The Mitochondrial Cocktail is presently widely used as the standard of care for clinically treating mitochondrial dysfunction.
The precise content of the Mitochondrial Cocktail will be:
- ubiquinol (liquid form, 150 mg/kg subject weight/day
- carnitine, 50 mg/kg subject weight/day
- alpha-lipoic acid, 100 mg/ day.
A series of neurological and psychological evaluations will be conducted by trained evaluators/clinicians to evaluate both the severity and the clinical presentation of the ASD/mitochondrial dysfunction with each subject at baseline prior to treatment, after the 3 month treatment and again at 6 months, after another 3 month non-treatment period. In addition, laboratory investigations will be conducted at the same time-points to assess the mitochondrial dysfunction and cellular biomarkers thought to be associated with autistic and mitochondrial disorders. These investigations will include the analysis of samples of blood and cheek/buccal swabs collected from each child to assess select biochemical markers of ASD. The Mitochondrial Cocktail treatment will be administered at home preferably in the morning once a day continuously for a total of 3 months. All the children in the study will be treated with the same Mitochondrial Cocktail (an open label study). . Safety will be also evaluated based on the occurrence of adverse events either reported spontaneously by the subject and/or caregiver or observed by the investigator(s).
- Conditions
- Autism Spectrum Disorders, Mitochondrial Diseases
- Being tested
- Mitochondrial Cocktail
- Medical subject headings
- Autism Spectrum Disorder, Mitochondrial Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Mitochondrial CocktailDrug
Also called Ubiqinol, Levocarnitine, Alpha Lipoic Acid
| Study group | Role | What they receive |
|---|---|---|
| Mitochondrial Cocktail | Experimental | The precise content of the Mitochondrial Cocktail will be:
* ubiquinol (liquid form, 150 mg/kg subject weight/day
* carnitine, 50 mg/kg subject weight/day
* alpha-lipoic acid, 100 mg/ day Receives: Drug: Mitochondrial Cocktail |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in features of Autistic behavior phenotype assessed using the Social Responsiveness Scale (SRS)
Measured: Baseline (0), 3 and 6 months
Change in Executive Function assessed using the Behavior Rating Inventory of Executive Function (BRIEF)
Measured: Baseline (0), 3 and 6 months
Secondary outcomes (2)
Changes in mitochondrial enzyme specific activities biochemically evaluated using buccal swab analysis
Measured: Baseline (0), 3 and 6 months
Change in buccal oxidative stress markers and mitochondrial DNA (mtDNA) damage
In buccal extracts, aconitase activity levels and mtDNA levels and integrity will be quantitatively evaluated at 0,3 and 6 months.
Measured: Baseline (0), 3 and 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jan 2015 (estimated)
- Study startMar 2016
- Primary completionJun 2017 (estimated)
- Study completionJun 2017 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Autism Spectrum DisordersStudies 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
- Interventional
- Phase
- Phase 1
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Drexel University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Michael J Goldenthal, PhD, Study director, Drexel University College of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02348125
- Sponsor's protocol ID
- DrexelMitoApp
- Acronym
- MitoASD
- Status last verified
- Apr 2017
- First submitted
- 22 Dec 2014
- Last updated
- 14 Apr 2017
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 14 Apr 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Does Clinical Treatment of Mitochondrial Dysfunction Impact Autism Spectrum Disorder (ASD)?
- ClinicalTrials.gov ID
- NCT02348125
- Acronym / sponsor ID
- MitoASD / DrexelMitoApp
- Conditions
- Autism Spectrum Disorders, Mitochondrial Diseases
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Drexel UniversityUniversity, hospital or other
- Study start
- Mar 2016
- Primary completion
- Jun 2017 (estimated)
- Study completion
- Jun 2017 (estimated)
- First posted
- 28 Jan 2015 (estimated)
- 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.
In this study, 50 children between 3 and 12 years old with formally diagnosed autistic spectrum disorders (ASD) and also having significant mitochondrial dysfunction will be treated for a 3 month period with the Mitochondrial Cocktail, a combination of specific nutritional supplements and metabolite intermediates (including anti-oxidants) and bio-energy substrates. A series of neurological and psychological evaluations will be conducted by trained evaluators/clinicians to evaluate both the severity and the clinical presentation of the ASD/mitochondrial dysfunction with each subject at baseline prior to treatment, after the 3 month treatment and again at 6 months, after another 3 month non-treatment period. In addition, laboratory investigations will be conducted at the same time-points to assess the mitochondrial dysfunction and cellular biomarkers thought to be associated with autistic and mitochondrial disorders. These investigations will include the analysis of samples of blood and cheek/buccal swabs collected from each child to assess select biochemical markers of ASD. The Mitochondrial Cocktail treatment will be administered at home once a day continuously for a total of 3 months. All the children in the study will be treated with the same Mitochondrial Cocktail (an open label study).
Detailed description
In this study, 50 children between 3 and 12 years old with formally diagnosed autistic spectrum disorders (ASD) and also having significant mitochondrial dysfunction will be treated for a 3 month period with the Mitochondrial Cocktail, a combination of specific nutritional supplements and metabolite intermediates (including anti-oxidants) and bio-energy substrates. The Mitochondrial Cocktail is presently widely used as the standard of care for clinically treating mitochondrial dysfunction.
The precise content of the Mitochondrial Cocktail will be:
- ubiquinol (liquid form, 150 mg/kg subject weight/day
- carnitine, 50 mg/kg subject weight/day
- alpha-lipoic acid, 100 mg/ day.
A series of neurological and psychological evaluations will be conducted by trained evaluators/clinicians to evaluate both the severity and the clinical presentation of the ASD/mitochondrial dysfunction with each subject at baseline prior to treatment, after the 3 month treatment and again at 6 months, after another 3 month non-treatment period. In addition, laboratory investigations will be conducted at the same time-points to assess the mitochondrial dysfunction and cellular biomarkers thought to be associated with autistic and mitochondrial disorders. These investigations will include the analysis of samples of blood and cheek/buccal swabs collected from each child to assess select biochemical markers of ASD. The Mitochondrial Cocktail treatment will be administered at home preferably in the morning once a day continuously for a total of 3 months. All the children in the study will be treated with the same Mitochondrial Cocktail (an open label study). . Safety will be also evaluated based on the occurrence of adverse events either reported spontaneously by the subject and/or caregiver or observed by the investigator(s).
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Mitochondrial Cocktail | Experimental | Drug: Mitochondrial CocktailThe precise content of the Mitochondrial Cocktail will be: * ubiquinol (liquid form, 150 mg/kg subject weight/day * carnitine, 50 mg/kg subject weight/day * alpha-lipoic acid, 100 mg/ day |
Who may qualify
- Ages
- 3 to 12 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (4 listed)
- Subject/legal representative is considered reliable and capable of adhering to the protocol (e.g., able to understand and complete diaries), visit schedule, and medication intake according to the judgment of the investigator.
- .
- Subject has a formal diagnosis of autistic spectrum disorders (ASD). the ASD diagnosis will satisfy the DSM- V criteria for ASD, and will be broad-spectrum including both severe and milder cases.
- All subjects will have either suspected mitochondrial dysfunction as assessed by clinical evaluation, mitochondrial dysfunction as defined by the presence of significant abnormalities in their buccal mitochondrial respiratory complex activities (i.e., with either respiratory complex I or complex IV deficiencies) or have significantly aberrant specific activity ratios. Subjects with significant deficiencies in either muscle or skin fibroblast respiratory activities will also be included in those cases if buccal mitochondrial respiratory enzyme activity testing has not been performed.
Key exclusion criteria (6 listed)
- Subject has any medical or psychiatric condition that, in the opinion of the investigator, could jeopardize or would compromise the subject's ability to participate in this study.
- Subject has a medical condition that could be expected in the opinion of the investigator to interfere with drug absorption, distribution, metabolism, or excretion.
- Subject is on a ketogenic or other specialized diet. If the subject was on a specialized diet in the past, they must be off the diet for ≥2 months prior to the Baseline Period.
- Subject has an acute or sub-acutely progressive central nervous system disease.
- Subject has major brain deformation or severe cognitive dysfunction.
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 |
|---|---|---|
| Mitochondrial CocktailAlso: Ubiqinol, Levocarnitine, Alpha Lipoic Acid | Drug | Mitochondrial Cocktail |
Primary outcome
Change in features of Autistic behavior phenotype assessed using the Social Responsiveness Scale (SRS)
Time frame: Baseline (0), 3 and 6 months
Change in Executive Function assessed using the Behavior Rating Inventory of Executive Function (BRIEF)
Time frame: Baseline (0), 3 and 6 months
2 secondary outcomes
Changes in mitochondrial enzyme specific activities biochemically evaluated using buccal swab analysis
Time frame: Baseline (0), 3 and 6 months
Change in buccal oxidative stress markers and mitochondrial DNA (mtDNA) damage
Time frame: Baseline (0), 3 and 6 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Apr 2017.
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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.
Michael J Goldenthal, PhD study director
Drexel University College of Medicine
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1 study testing Mitochondrial Cocktail in people with Autism Spectrum Disorders and Mitochondrial Diseases, run by Drexel University at 1 site in United States.
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 4 inclusion and 6 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: status not confirmed, as of the sponsor's last update on 14 Apr 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
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.
What does this phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Agustin Legido, MD, PhD (215-427-5452, agustin.legido@drexelmed.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in features of Autistic behavior phenotype assessed using the Social Responsiveness Scale (SRS) (time frame: Baseline (0), 3 and 6 months). The study lists 2 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 14 Apr 2017.