[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT07734090":3,"trial-entities:NCT07734090":82,"trial-summary:NCT07734090":85},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":7,"overall_status":8,"completion_date":9,"status_verified_date":10,"last_update_date":11,"start_date":10,"sponsor_name":12,"lead_sponsor_class":13,"has_dmc":14,"brief_summary":15,"detailed_description":16,"conditions":17,"keywords":19,"study_type":20,"primary_purpose":21,"phases":22,"enrollment_info":23,"interventions":26,"primary_outcomes":27,"secondary_outcomes":32,"sex":40,"minimum_age":21,"maximum_age":21,"healthy_volunteers":14,"eligibility_criteria":41,"std_ages":47,"locations":51,"central_contacts":71,"overall_officials":77,"references":80,"see_also_links":81},"NCT07734090","STUDY-26-00377","Natural History of MADD","Natural History of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)","NOT_YET_RECRUITING","2031-07","2026-07","2026-07-29","Icahn School of Medicine at Mount Sinai","OTHER",false,"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.","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.",[18],"Multiple Acyl-CoA Dehydrogenase Deficiency",[],"OBSERVATIONAL",null,[],{"count":24,"type":25},50,"ESTIMATED",[],[28],{"measure":29,"description":30,"timeFrame":31},"Number of participants enrolled in the patient registry","The number of participants enrolled in the patient registry will be assessed.","5 years",[33,37],{"measure":34,"description":35,"timeFrame":36},"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.","Yearly, up to 5 years or every 6 months if participant is under 2 years of age",{"measure":38,"description":39,"timeFrame":36},"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.","ALL",{"inclusion":42,"exclusion":45,"raw_text":46},[43,44],"Have a biochemical and\u002For 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",[],"Inclusion Criteria:\n\n* Have a biochemical and\u002For molecular diagnosis of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), as confirmed by a study investigator\n* Provision of signed and dated informed consent form (and assent when applicable) from subject or subject's legal representative\n\nExclusion Criteria:\n\n\\- Presence of a major unrelated condition",[48,49,50],"CHILD","ADULT","OLDER_ADULT",[52,65],{"facility":53,"city":54,"state":55,"zip":56,"country":57,"contacts":58,"geoPoint":62},"Children's Hospital Colorado Anschutz Medical Campus","Aurora","Colorado","80045","United States",[59],{"name":60,"role":61},"Johan Van Hove, MD, PhD","PRINCIPAL_INVESTIGATOR",{"lat":63,"lon":64},39.72943,-104.83192,{"facility":12,"city":66,"state":66,"zip":67,"country":57,"geoPoint":68},"New York","10029",{"lat":69,"lon":70},40.71427,-74.00597,[72],{"name":73,"role":74,"phone":75,"email":76},"Mary Freeman, MS, CGC","CONTACT","(347) 668-9162","mary.freeman@mssm.edu",[78],{"name":79,"affiliation":12,"role":61},"Mary Kate LoPiccolo, MD",[],[],{"nct_id":4,"conditions":83,"biomarkers":84},[18],[],{"nct_id":4,"found":86,"summary":87,"prompt_version":97},true,{"design":88,"status":89,"heading":90,"summary":91,"follow_up":92,"word_count":93,"commitments":94,"compensation":95,"drugs_mentioned":96},"This is an observational study, meaning researchers will watch and collect information without giving any specific treatments. It plans to include 50 participants.","completed","Observational Study of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)","This is an observational study looking at the natural history of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), a genetic condition. Researchers want to understand how MADD changes over time, what its symptoms are, and to find ways to measure the disease's progression. This study is not testing a new treatment. You can join if you have a confirmed diagnosis of MADD. The main goal is to enroll 50 participants in a patient registry over five years. The current recruitment status is unclear.","Participants with a molecular diagnosis will have annual follow-ups, or every 6 months for those under 2 years old.",81,"If you have a molecular diagnosis, you will have annual follow-ups (or every 6 months if under 2 years old). This involves standard medical assessments, questionnaires, and sample collection.","Not stated in the trial record.",[],"v2"]