[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT01998750":3,"trial-entities:NCT01998750":98,"trial-summary:NCT01998750":101},{"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":12,"sponsor_name":13,"lead_sponsor_class":14,"has_dmc":15,"brief_summary":16,"detailed_description":17,"conditions":18,"keywords":20,"study_type":25,"primary_purpose":26,"phases":27,"enrollment_info":28,"interventions":31,"primary_outcomes":32,"secondary_outcomes":36,"sex":41,"minimum_age":26,"maximum_age":42,"healthy_volunteers":15,"eligibility_criteria":43,"std_ages":54,"locations":58,"central_contacts":82,"overall_officials":85,"references":88,"see_also_links":97},"NCT01998750","AAAR0351","Study to Investigate Genetic Causes of Severe Early Childhood Onset Obesity.","Study to Identify Rare Genetic Variants Causing Severe Early Childhood Obesity","RECRUITING","2030-12","2025-10","2025-10-21","2014-02","Columbia University","OTHER",false,"This study aims to investigate genetic causes of early childhood obesity.\n\nThe investigators will enroll children and adults with severe early onset obesity (BMI \\> 99th percentile) diagnosed prior to 6 years of age. The investigators will ask questions about the health and eating behavior of the participants, and perform a brief physical examination. The investigators will collect saliva or blood to perform genetic testing from the participants and invite family members to enroll in the study.","This is a clinical and genomic study designed to investigate monogenic causes of severe early childhood obesity.\n\nParticipants with severe early onset obesity will be identified by screening of the clinical database or referred for the study. These subjects will be invited to participate in the study. After obtaining informed consent, the investigators will obtain history on the proband and the family, and perform a brief examination in addition to collecting genetic material.\n\nTargeted sequencing of genes associated with monogenic and syndromic forms of obesity will be performed using next-generation sequencing. In selected individuals with favorable family history, exome or whole genome sequencing will be performed. Functional analysis of newly identified variants will be performed where possible.",[19],"Obesity",[21,22,23,24],"obesity","genetics","early-onset","childhood","OBSERVATIONAL",null,[],{"count":29,"type":30},500,"ESTIMATED",[],[33],{"measure":34,"description":34,"timeFrame":35},"Identification of known or novel genetic variants in genes that underlie obesity.","1.5-2 years",[37],{"measure":38,"description":39,"timeFrame":40},"Prevalence of melanocortin receptor 4 mutations.","We will test the hypothesis that 1-3% of early onset obesity could be explained by carriage of mutation of monogenic obesity such as melanocortin receptor 4 in a mixed pediatric population.","2 years","ALL","80 Years",{"inclusion":44,"exclusion":45,"raw_text":53},[],[46,47,48,49,50,51,52],"Known genetic causes of obesity","Known Endocrine causes of obesity.","Neurologic tumor, trauma or surgery","Prior malignancy or transplant","Known autoimmune diseases","Edema of a known or unknown cause","Prolonged steroid use.","Inclusion Criteria:\n\n\\- BMI \\> 99th percentile documented at age \\\u003C 6 years of age\n\nExclusion Criteria:\n\n* Known genetic causes of obesity\n* Known Endocrine causes of obesity.\n* Neurologic tumor, trauma or surgery\n* Prior malignancy or transplant\n* Known autoimmune diseases\n* Edema of a known or unknown cause\n* Prolonged steroid use.",[55,56,57],"CHILD","ADULT","OLDER_ADULT",[59,69],{"facility":60,"status":61,"city":62,"state":63,"zip":64,"country":65,"geoPoint":66},"Boston Children's Hospital","ACTIVE_NOT_RECRUITING","Boston","Massachusetts","02115","United States",{"lat":67,"lon":68},42.35843,-71.05977,{"facility":70,"status":8,"city":71,"state":71,"zip":72,"country":65,"contacts":73,"geoPoint":79},"Columbia University Medical Center","New York","10032",[74],{"name":75,"role":76,"phone":77,"email":78},"Vidhu Thaker, MD","CONTACT","212-851-5315","vvt2114@cumc.columbia.edu",{"lat":80,"lon":81},40.71427,-74.00597,[83],{"name":84,"role":76,"phone":77,"email":78},"Vidhu Thaker, M.D.",[86],{"name":84,"affiliation":13,"role":87},"PRINCIPAL_INVESTIGATOR",[89,93],{"pmid":90,"type":91,"citation":92},"30811542","RESULT","De Rosa MC, Chesi A, McCormack S, Zhou J, Weaver B, McDonald M, Christensen S, Liimatta K, Rosenbaum M, Hakonarson H, Doege CA, Grant SFA, Hirschhorn JN, Thaker VV. Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity. J Clin Endocrinol Metab. 2019 Jul 1;104(7):2961-2970. doi: 10.1210\u002Fjc.2018-02657.",{"pmid":94,"type":95,"citation":96},"40148561","DERIVED","Nigam S, Zhu M, Shoemaker AH, Gross AC, Fox CK, Thaker VV. Novel model of childhood appetitive traits in children with obesity. Int J Obes (Lond). 2025 Jun;49(6):1084-1091. doi: 10.1038\u002Fs41366-025-01747-z. Epub 2025 Mar 27.",[],{"nct_id":4,"conditions":99,"biomarkers":100},[19],[],{"nct_id":4,"found":102,"summary":103,"prompt_version":113},true,{"design":104,"status":105,"heading":106,"summary":107,"follow_up":108,"word_count":109,"commitments":110,"compensation":111,"drugs_mentioned":112},"This is an observational study aiming to enroll 500 participants. It is designed to investigate genetic causes of severe early childhood obesity.","completed","Study on Genetic Causes of Severe Early Childhood Obesity","This study is looking for children and adults with severe obesity that started before they were 6 years old. The goal is to find new or known genetic changes that might cause this type of obesity. Researchers will ask you about your health and eating habits, do a quick physical exam, and collect a saliva or blood sample for genetic testing. Family members are also invited to join. This study is observational, meaning it involves watching and collecting information, not giving any new treatments. The main goal is to identify genetic causes of obesity, with results expected in about 1.5 to 2 years.","The primary goal of identifying genetic variants is measured at 1.5 to 2 years.",103,"You would answer questions about your health and eating behavior, have a brief physical examination, and provide a saliva or blood sample for genetic testing.","Not stated in the trial record.",[],"v2"]