Natural History of MADD

NCT07734090 | Not Yet Recruiting

• 1 other identifier: STUDY-26-00377
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 2

Brief 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.

Conditions

Multiple Acyl-CoA Dehydrogenase Deficiency

Outcome Measures

Primary Outcomes (1)

• Number of participants enrolled in the patient registry

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

  5 years

Secondary Outcomes (2)

• Patient-Reported Outcomes Measurement Information System Scale (PROMIS 10)

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

• Vineland Adaptive Behavior Scale (VABS)

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

Study Arms (1)

Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)

Patients with a molecular and/or biochemical diagnosis of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD).

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with a biochemical and/or molecular diagnosis of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), as confirmed by a study investigator.

You may qualify if:

• 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

You may not qualify if:

• \- Presence of a major unrelated condition

Sponsors & Collaborators

• Icahn School of Medicine at Mount Sinai: lead

Study Sites (2)

Children's Hospital Colorado Anschutz Medical Campus

Aurora, Colorado, 80045, United States

Location

Icahn School of Medicine at Mount Sinai

New York, New York, 10029, United States

Location

MeSH Terms

Conditions

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

Condition Hierarchy (Ancestors)

Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Mitochondrial Diseases

Study Officials

• Mary Kate LoPiccolo, MD

  Icahn School of Medicine at Mount Sinai

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Mary Freeman, MS, CGC

CONTACT

(347) 668-9162; mary.freeman@mssm.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor

Study Record Dates

• First Submitted: July 24, 2026
• First Posted: July 29, 2026
• Study Start: July 1, 2026
• Primary Completion (Estimated): July 1, 2031
• Study Completion (Estimated): July 1, 2031
• Last Updated: July 29, 2026

Record last verified: 2026-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (2)