Cohort profile: Multicenter Networks for Ideal Outcomes of Rare Pediatric Endocrine and Metabolic Diseases in Korea (OUTSPREAD study)
- Author:
Yun Jeong LEE
1
;
Chong Kun CHEON
;
Junghwan SUH
;
Jung-Eun MOON
;
Moon Bae AHN
;
Seong Hwan CHANG
;
Jieun LEE
;
Jin Ho CHOI
;
Minsun KIM
;
Han Hyuk LIM
;
Jaehyun KIM
;
Shin-Hye KIM
;
Hae Sang LEE
;
Yena LEE
;
Eungu KANG
;
Se Young KIM
;
Yong Hee HONG
;
Seung YANG
;
Heon-Seok HAN
;
Sochung CHUNG
;
Won Kyoung CHO
;
Eun Young KIM
;
Jin Kyung KIM
;
Kye Shik SHIM
;
Eun-Gyong YOO
;
Hae Soon KIM
;
Aram YANG
;
Sejin KIM
;
Hyo-Kyoung NAM
;
Sung Yoon CHO
;
Young Ah LEE
Author Information
- Publication Type:Cohort Profile
- From:Annals of Pediatric Endocrinology & Metabolism 2024;29(6):349-355
- CountryRepublic of Korea
- Language:English
- Abstract: Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice and outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) study was initiated. This study involves 30 centers across Korea. The study aims to improve the long-term prognosis of Korean patients with rare endocrine diseases by collecting comprehensive clinical data, biospecimens, and patient-reported outcomes to identify complications and unmet needs in patient care. Patients with childhood-onset pituitary, adrenal, or gonadal disorders, such as craniopharyngioma, congenital adrenal hyperplasia (CAH), and Turner syndrome were prioritized. The planned enrollment is 1,300 patients during the first study phase (2022–2024). Clinical, biochemical, and imaging data from diagnosis, treatment, and follow-up during 1980–2023 were retrospectively reviewed. For patients who agreed to participate in the prospective cohort, clinical data and biospecimens will be prospectively collected to discover ideal biomarkers that predict the effectiveness of disease control measures and prognosis. Patient-reported outcomes, including quality of life and depression scales, will be evaluated to assess psychosocial outcomes. Additionally, a substudy on CAH patients will develop a steroid hormone profiling method using liquid chromatography-tandem mass spectrometry to improve diagnosis and monitoring of treatment outcomes. This study will address unmet clinical needs by discovering ideal biomarkers, introducing evidence-based treatment guidelines, and ultimately improving long-term outcomes in the areas of rare endocrine and metabolic diseases.
