Not yet recruiting NCT07734090

Natural History of MADD

— Observational Multiple Acyl-CoA Dehydrogenase Deficiency

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied: This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to: Registry conditions: Multiple Acyl-CoA Dehydrogenase Deficiency. Basic parameters: No limits · All.
What needs checking: Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place: United States
Next step: Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

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Official title

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

Overview

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.

Primary outcome measures

Number of participants enrolled in the patient registry [Time frame: 5 years]

Secondary outcome measures (2)

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]

Eligibility criteria

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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model: Cohort

Study locations

United States · 2 centers

Children's Hospital Colorado Anschutz Medical Campus — Aurora
Icahn School of Medicine at Mount Sinai — New York

Identifiers

NCT: NCT07734090 · STUDY-26-00377

Primary sources (government registries)

ClinicalTrials.gov (US NIH)

View this study on ClinicalTrials.gov ↗