Natural History of 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.

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Key information

Conditions

Multiple Acyl-CoA Dehydrogenase Deficiency Amino Acid Metabolism, Inborn Errors Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Mitochondrial Diseases Multiple Acyl Coenzyme A Dehydrogenase Deficiency Nutritional and Metabolic Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Children's Hospital Colorado Anschutz Medical Campus, Aurora, Colorado, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

Presence of a major unrelated condition

Treatment and study plan

Primary outcomes

Number of participants enrolled in the patient registry

Time frame: 5 years

The number of participants enrolled in the patient registry will be assessed.

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

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.
Vineland Adaptive Behavior Scale (VABS)

Time frame: Yearly, up to 5 years or every 6 months if participant is under 2 years of age

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.

Study contacts

Contact information is provided by the study sponsor or research team.

Mary Freeman, MS, CGC

CONTACT

[email protected]

(347) 668-9162

Sponsors and collaborators

Lead sponsor

Icahn School of Medicine at Mount Sinai

Other

Registry information

Official study title

Natural History of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)

Important dates

Study start: 2026
Primary completion: 2031
Study completion: 2031
First posted: Jul 29, 2026
Registry last updated: Sep 16, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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