[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT02769975":3,"trial-entities:NCT02769975":99,"trial-summary:NCT02769975":108},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":6,"overall_status":7,"completion_date":8,"status_verified_date":9,"last_update_date":10,"start_date":11,"sponsor_name":12,"lead_sponsor_class":13,"has_dmc":14,"brief_summary":15,"detailed_description":16,"conditions":17,"keywords":23,"study_type":28,"primary_purpose":14,"phases":29,"enrollment_info":30,"interventions":33,"primary_outcomes":34,"secondary_outcomes":41,"sex":49,"minimum_age":50,"maximum_age":51,"healthy_volunteers":52,"eligibility_criteria":53,"std_ages":61,"locations":65,"central_contacts":82,"overall_officials":91,"references":94,"see_also_links":95},"NCT02769975","160113","Evaluation of Children With Endocrine and Metabolic-Related Conditions","RECRUITING","2030-12-31","2026-07-31","2026-08-13","2016-07-12","Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)","NIH",null,"Background:\n\nEndocrine glands give off hormones. Researchers want to learn more about the disorders that affect these glands in children. These disorders might be caused by changes in genes. Genes contain DNA, which is the blueprint of how a cell works. Researchers want to identify the genes involved in endocrine and metabolic disorders. This might help develop new ways to diagnose and treat the disorders.\n\nObjective:\n\nTo study the inheritance of endocrine or metabolism disorders.\n\nEligibility:\n\nChildren ages 3month-18 with known or suspected endocrine or metabolism disorders.\n\nFamily members ages 3months-100. They may participate in the DNA part of the study.\n\nDesign:\n\nParticipants will be screened with a review of their medical records. Their parents or guardians will allow the records to be released.\n\nParticipants will have a clinic visit. This may include a physical exam and medical history.\n\nParents or guardians will give their consent for the study. Participants may have tests, surgery, or other procedures to help diagnose or treat their condition. These could include:\n\nBlood, urine, and saliva tests\n\nGrowth hormone test\n\nPituitary and adrenal function tests\n\nPicture of chromosomes\n\nImaging tests. These may include X-ray, ultrasound, scans, or a skeletal survey.\n\nGenetic tests\n\nSleep study\n\nMedical photographs\n\nIf surgery is done, a tissue sample will be taken.\n\nParticipants may have follow-up visits for diagnosis and treatment.\n\nParticipating relatives will have one visit. This will include medical history and blood and saliva tests. The blood and saliva will be used for DNA testing.","Study Description:\n\nThis protocol is designed to allow endocrine-related evaluations of children with known or suspected endocrine or metabolic disorders.\n\nChildren with endocrine or metabolic-related condition(s) who may or may not be eligible for a specific NICHD research protocol, may be evaluated under the auspices of this protocol. Standard clinically indicated laboratory or radiological studies may be performed to confirm a diagnosis or to aid in the management of the patient. In some cases, the child participant may receive medical or surgical treatment for their disorder at the National Institutes of Health (NIH) Clinical Center (CC) according to current clinical practice. Family members of children evaluated on this protocol (who have informative meiotic inheritance relationships to the proband or index case) may be enrolled in the genetic\u002FDNA testing part of the protocol.\n\nObjectives:\n\nPrimary Objective:\n\n-Comprehensive evaluation of pediatric endocrine diseases and conditions as well as track natural progress of the development of such\n\nconditions in diverse population of pediatric subjects with a known or suspected endocrine or metabolic disorder.\n\nSecondary Objective:\n\n-Samples for molecular genetic or WES testing\n\nEndpoints:\n\nPrimary Endpoint:\n\nAppraisal of number and diversity of endocrine related diagnosis of patients evaluated on this protocol.\n\nSecondary Endpoints:\n\n-Number of samples for molecular genetic or WES testing.",[18,19,20,21,22],"Adrenal Insufficiency","Growth Disorder","Endocrine Diseases","Metabolic Disease","Bone Diseases, Metabolic",[24,25,26,19,27],"Endocrinology","Obesity","Pediatric","Pubertal Development","OBSERVATIONAL",[],{"count":31,"type":32},15000,"ESTIMATED",[],[35,38],{"measure":36,"description":36,"timeFrame":37},"Provide an option for patients with unusual or challenging endocrine or metabolic conditions, who may or may not be eligible for an existing research protocol, to be evaluated at NIH.","Baseline",{"measure":39,"description":40,"timeFrame":37},"Recruit a diverse population of pediatric subjects with a known or suspected endocrine or metabolic disorder in order to provide NICHD investigators and trainees with hands-on experience related to the diagnosis, management, treatment, and follo...","Recruit a diverse population of pediatric subjects with a known or suspected endocrine or metabolic disorder in order to provide NICHD investigators and trainees with hands-on experience related to the diagnosis, management, treatment, and follow-up of p",[42,45,47],{"measure":43,"description":43,"timeFrame":44},"All studies or procedures (other than biospecimens\u002FDNA) that are not clinically indicated need to be explicitly described in the protocol or approved by amendment.","Ongoing",{"measure":46,"description":46,"timeFrame":44},"Any prospective (including pilot investigations) or retrospective hypothesis driven research for patients enrolled in this protocol must be approved by the NICHD Office of the Clinical Director and NICHD IRB.",{"measure":48,"description":48,"timeFrame":44},"Clinical evaluation of children with unusual or challenging endocrine or metabolic conditions may include whole exome sequencing (WES) or other new molecular technologies to identify the molecular genetic etiology","ALL","3 Months","100 Years",false,{"inclusion":54,"exclusion":57,"raw_text":60},[55,56],"Participants with known or suspected endocrine disorder age 3 months-18 years are eligible for this protocol.","Relatives ages 3 months-100 years may be enrolled if clinically indicated for the diagnosis of a proband.",[58,59],"Lack of suspected endocrine disorders.","Any medical, physical, psychiatric, or social conditions, which, in the opinion of the investigators, would make participation in this protocol not in the best interest of the patient, will exclude participation. Patients who are critically ill, unstable, or with severe organ failure that may affect\u002Flimit the endocrine evaluation and place unsustainable demands on Clinical Center or NICHD resources will be excluded.","* INCLUSION CRITERIA:\n\nIn order to be eligible to participate in this study, an individual must meet all of the following criteria:\n\n* Participants with known or suspected endocrine disorder age 3 months-18 years are eligible for this protocol.\n* Relatives ages 3 months-100 years may be enrolled if clinically indicated for the diagnosis of a proband.\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n* Lack of suspected endocrine disorders.\n* Any medical, physical, psychiatric, or social conditions, which, in the opinion of the investigators, would make participation in this protocol not in the best interest of the patient, will exclude participation. Patients who are critically ill, unstable, or with severe organ failure that may affect\u002Flimit the endocrine evaluation and place unsustainable demands on Clinical Center or NICHD resources will be excluded.",[62,63,64],"CHILD","ADULT","OLDER_ADULT",[66],{"facility":67,"status":7,"city":68,"state":69,"zip":70,"country":71,"contacts":72,"geoPoint":79},"National Institutes of Health Clinical Center","Bethesda","Maryland","20892","United States",[73],{"name":74,"role":75,"phone":76,"phoneExt":77,"email":78},"For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)","CONTACT","800-411-1222","TTY8664111010","prpl@cc.nih.gov",{"lat":80,"lon":81},38.98067,-77.10026,[83,87],{"name":84,"role":75,"phone":85,"email":86},"Harinder D Raipuria, C.R.N.P.","(301) 254-2982","harinder.raipuria@nih.gov",{"name":88,"role":75,"phone":89,"email":90},"Catherine M Gordon, M.D.","(301) 827-5449","catherine.gordon@nih.gov",[92],{"name":88,"affiliation":12,"role":93},"PRINCIPAL_INVESTIGATOR",[],[96],{"label":97,"url":98},"NIH Clinical Center Detailed Web Page","https:\u002F\u002Fclinicalstudies.info.nih.gov\u002Fcgi\u002Fdetail.cgi?A_2016-CH-0113.html",{"nct_id":4,"conditions":100,"biomarkers":107},[101,102,103,104,105,106,25],"Absent pubertal development","Adrenocortical Insufficiency","Bone Disorder","Endocrine System Disorder","Growth Disorders","Metabolic Disorder",[],{"nct_id":4,"found":109,"summary":110,"prompt_version":119},true,{"design":111,"status":112,"heading":6,"summary":113,"follow_up":114,"word_count":115,"commitments":116,"compensation":117,"drugs_mentioned":118},"This is an observational study with a planned enrollment of 15,000 participants. It is designed to allow for comprehensive evaluations of pediatric endocrine diseases and conditions.","completed","This observational study aims to understand more about endocrine (hormone-related) and metabolic (how your body uses energy) conditions in children. Researchers want to identify the genes involved in these disorders, which could lead to better ways to diagnose and treat them. This study offers an opportunity for children with known or suspected endocrine or metabolic disorders to be evaluated at the National Institutes of Health (NIH). Family members may also participate, especially for genetic testing, to help understand how these conditions are inherited. The study will track the natural progression of these conditions in a diverse group of children.","The primary endpoints are measured at Baseline, focusing on providing evaluation options and recruiting diverse subjects. Long-term follow-up beyond this is not specified.",99,"Participants will be screened through a review of their medical records. They may undergo standard laboratory or radiological studies, and in some cases, receive medical or surgical treatment at the NIH Clinical Center.","Not stated in the trial record.",[],"v2"]