Multiple Acyl-CoA Dehydrogenase Deficiency
Conditions
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.
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.
Interventions
None listed
Sponsors
Icahn School of Medicine at Mount Sinai
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of participants enrolled in the patient registry | 5 years | The number of participants enrolled in the patient registry will be assessed. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| 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 | 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) | 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. |
Countries
United States
Contacts
CONTACTMary Freeman, MS, CGC
PRINCIPAL_INVESTIGATORMary Kate LoPiccolo, MD
Icahn School of Medicine at Mount Sinai
Outcome results
None listed