Eneli Ihuoma, Xu Jinyu, Webster Matthew, McCagg Amy, Van Der Ploeg Lex, Garfield Alastair S, Estrada Elizabeth
Center for Healthy Weight and Nutrition, Nationwide Children's Hospital, Columbus, OH, USA.
Department of Pediatrics, The Ohio State University, Columbus, OH, USA.
Appl Clin Genet. 2019 Jun 5;12:87-93. doi: 10.2147/TACG.S199092. eCollection 2019.
The hypothalamic melanocortin-4 receptor (MC4R) pathway, a component of the central melanocortin pathway, regulates energy balance and satiety. Rare genetic disorders of obesity may be characterized by impaired MC4R pathway signaling, which results in early-onset severe obesity and insatiable hunger (hyperphagia). The TEMPO registry (NCT03479437) is a voluntary, prospective, open-ended registry of individuals with rare genetic disorders of obesity due to mutations in genes within the MC4R pathway who have early-onset severe obesity. The objective of the TEMPO registry is to evaluate the burden of rare genetic disorders of obesity on individuals, their parents/caregivers, health care providers, and the health care system. Individuals with rare genetic disorders of obesity (adults aged ≥18 years and children and adolescents aged from 2 to 17 years) will be referred by their health care providers or by a genetic screening study. Individuals must meet age- and sex-specific body mass index values that define the clinical criteria for severe obesity and carry selected variants in or in one of several genes upstream or downstream of the MC4R. Online surveys will be completed by the individual, parent/caregiver, and health care provider at baseline and annually thereafter and will collect data on demographics, results of genetic testing, medical/family history, disease characteristics, resource utilization, eating habits/hunger episodes, social and emotional impacts, and interest in future clinical trial participation. The TEMPO registry will provide insights into the overall course and disease burden for individuals with rare genetic disorders of obesity. Health care providers may use this resource to improve the identification, diagnosis, and treatment of individuals with rare forms of genetic obesity.
下丘脑黑皮质素-4受体（MC4R）通路是中枢黑皮质素通路的一个组成部分，可调节能量平衡和饱腹感。罕见的肥胖遗传疾病可能以MC4R通路信号受损为特征，这会导致早发性严重肥胖和无法满足的饥饿感（食欲亢进）。TEMPO注册研究（NCT03479437）是一个自愿、前瞻性、开放式的注册研究，对象是由于MC4R通路内基因突变而患有早发性严重肥胖的罕见肥胖遗传疾病个体。TEMPO注册研究的目的是评估罕见肥胖遗传疾病对个体、其父母/照顾者、医疗保健提供者和医疗保健系统的负担。患有罕见肥胖遗传疾病的个体（年龄≥18岁的成年人以及2至17岁的儿童和青少年）将由其医疗保健提供者或基因筛查研究转诊。个体必须符合年龄和性别特异性的体重指数值，这些值定义了严重肥胖的临床标准，并在MC4R或其上游或下游的几个基因之一中携带特定变异。个体、父母/照顾者和医疗保健提供者将在基线时以及此后每年完成在线调查，调查将收集有关人口统计学、基因检测结果、医疗/家族史、疾病特征、资源利用、饮食习惯/饥饿发作、社会和情感影响以及对未来参与临床试验的兴趣等数据。TEMPO注册研究将为患有罕见肥胖遗传疾病的个体的总体病程和疾病负担提供见解。医疗保健提供者可以利用这一资源改善对罕见遗传性肥胖个体的识别、诊断和治疗。
