Multiple Acyl-CoA Dehydrogenase DeficiencyNCT07734090
Natural History of MADD
An observational study of Multiple Acyl-CoA Dehydrogenase Deficiency, run by Icahn School of Medicine at Mount Sinai at 2 sites in United States.
Trial summary
The objective of this study is to conduct a longitudinal, observational investigation to determine the natural history of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), delineate the spectrum of its clinical features and their progression, identify biomarkers, and develop and validate patient reported outcomes. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Multiple Acyl-CoA Dehydrogenase Deficiency
- How many people
- 50 participants
- Where
- 2 sitesUnited States
- Study dates
- Oct 2026to Jul 2031
- How long will I take part?
- 5 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with a biochemical and/or molecular diagnosis of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), as confirmed by a study investigator.
Who may be able to join
- Have a biochemical and/or molecular diagnosis of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), as confirmed by a study investigator
- Provision of signed and dated informed consent form (and assent when applicable) from subject or subject's legal representative
Who cannot join
- Presence of a major unrelated condition
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States2 sites, 2 recruiting
- Not yet recruiting
Children's Hospital Colorado Anschutz Medical Campus
Aurora, Colorado, 80045
Johan Van Hove, MD, PhD
- Recruiting
Icahn School of Medicine at Mount Sinai
New York, New York, 10029
About this study
Official title: Natural History of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)
The objective of this study is to conduct a longitudinal, observational investigation to determine the natural history of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), delineate the spectrum of its clinical features and their progression, identify biomarkers, and develop and validate patient reported outcomes.
Read the detailed description
Participants with a confirmed molecular diagnosis of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) will complete annual follow-ups (or every 6 months for participants under 2 years of age). Participants with a biochemical diagnosis, but without a molecular diagnosis, will complete baseline evaluations and will not complete further annual assessments if a molecular diagnosis is not made following the baseline evaluations. Study activities will involve standard of care clinical assessments and medical record data abstraction for such assessments, as well as research-specific assessments, questionnaires, and sample collection.
- Medical subject headings
- Multiple Acyl Coenzyme A Dehydrogenase Deficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) | Patients with a molecular and/or biochemical diagnosis of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD). |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of participants enrolled in the patient registry
The number of participants enrolled in the patient registry will be assessed.
Measured: 5 years
Secondary outcomes (2)
Patient-Reported Outcomes Measurement Information System Scale (PROMIS 10)
The Patient-Reported Outcomes Measurement Information System Scale (PROMIS 10) is a series of person-centered measures that evaluate and monitor physical, mental, and social health in adults and children consisting of a 10-item patient-reported questionnaire. This questionnaire is standardized to the general population, using the "T-Score." The average "T-Score" for the United States population is 50 points, with a standard deviation of 10 points. A higher score indicates a healthier patient.
Measured: Yearly, up to 5 years or every 6 months if participant is under 2 years of age
Vineland Adaptive Behavior Scale (VABS)
The Vineland Adaptive Behavior Scale (VABS) is a semi-structured interview designed to assess global adaptive functioning, composed of 3 main domains: Communication (COM), Daily Living Skills (DLS), and Socialization (SOC). All domains are reported in terms of standard scores as described in the VABS manual, with a mean score of 100 and a standard deviation of 15. The Adaptive Behavior Composite ABC (total score) is the sum of the raw scores from the three main domains. These are transformed into standard scores with a mean score of 100 and a standard deviation of 15. The higher the score, the better the adaptive behavior.
Measured: Yearly, up to 5 years or every 6 months if participant is under 2 years of age
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Jul 2026
- Study startOct 2026 (estimated)
- Primary completionJul 2031 (estimated)
- Study completionJul 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Multiple Acyl-CoA Dehydrogenase DeficiencyStudies of the same condition, open and under way.
- More trials run by Icahn School of Medicine at Mount SinaiThe sponsor's other registered studies.
- 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 50 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- Icahn School of Medicine at Mount Sinai
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Mary LoPiccolo, Icahn School of Medicine at Mount Sinai
- Investigators
- Mary Kate LoPiccolo, MD, Principal investigator, Icahn School of Medicine at Mount Sinai
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07734090
- Sponsor's protocol ID
- STUDY-26-00377
- Status last verified
- Sep 2026
- First submitted
- 24 Jul 2026
- Last updated
- 16 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: As this is a rare disease, sharing IPD would involve risk of identification of participants.
Study at a glance
From the registry record, last updated by the sponsor on 16 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)
- ClinicalTrials.gov ID
- NCT07734090
- Acronym / sponsor ID
- STUDY-26-00377
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Icahn School of Medicine at Mount SinaiUniversity, hospital or other
- Study start
- Oct 2026 (estimated)
- Primary completion
- Jul 2031 (estimated)
- Study completion
- Jul 2031 (estimated)
- First posted
- 29 Jul 2026 (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 objective of this study is to conduct a longitudinal, observational investigation to determine the natural history of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), delineate the spectrum of its clinical features and their progression, identify biomarkers, and develop and validate patient reported outcomes.
Detailed description
Participants with a confirmed molecular diagnosis of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) will complete annual follow-ups (or every 6 months for participants under 2 years of age). Participants with a biochemical diagnosis, but without a molecular diagnosis, will complete baseline evaluations and will not complete further annual assessments if a molecular diagnosis is not made following the baseline evaluations. Study activities will involve standard of care clinical assessments and medical record data abstraction for such assessments, as well as research-specific assessments, questionnaires, and sample collection.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 5 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) | – | –Patients with a molecular and/or biochemical diagnosis of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD). |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with a biochemical and/or molecular diagnosis of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), as confirmed by a study investigator.
Key inclusion criteria (2 listed)
- Have a biochemical and/or molecular diagnosis of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), as confirmed by a study investigator
- Provision of signed and dated informed consent form (and assent when applicable) from subject or subject's legal representative
Key exclusion criteria (1 listed)
- Presence of a major unrelated condition
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Number of participants enrolled in the patient registry
Time frame: 5 years
The number of participants enrolled in the patient registry will be assessed.
2 secondary outcomes
Patient-Reported Outcomes Measurement Information System Scale (PROMIS 10)
Time frame: Yearly, up to 5 years or every 6 months if participant is under 2 years of age
Vineland Adaptive Behavior Scale (VABS)
Time frame: Yearly, up to 5 years or every 6 months if participant is under 2 years of age
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Sep 2026.
- Individual participant dataSharing planned: No. As this is a rare disease, sharing IPD would involve risk of identification of participants.
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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.
Mary Kate LoPiccolo, MD principal investigator
Icahn School of Medicine at Mount Sinai
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Multiple Acyl-CoA Dehydrogenase Deficiency, run by Icahn School of Medicine at Mount Sinai at 2 sites 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 2 inclusion and 1 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: looking for participants now, as of the sponsor's last update on 16 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites 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.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Mary Freeman, MS, CGC ((347) 668-9162, mary.freeman@mssm.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of participants enrolled in the patient registry (time frame: 5 years). 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 16 Sep 2026.