Electronic Registry of Male Patients With Congenital Adrenal Hyperplasia 21-hydroxylase Deficiency
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 30
- 试验地点
- 1
- 主要终点
- Creation of an electronic registry
研究概览
简要总结
Observational, retrospective, prospective, single-center cohort study. Participation in the registry will be offered consecutively to any patient with the disease, newly diagnosed or with documented diagnosis made at another center, at any stage of the disease. Laboratory tests, imaging study for patient monitoring and care procedures all will be conducted in accordance with normal clinical practice.
详细描述
Observational, retrospective, prospective, single-center cohort study conducted at the UOC of Endocrinology and Diabetes Prevention and Treatment of IRCCS AOU of Bologna. Participation in the Registry will be offered consecutively to any patient with the disease, newly diagnosed or with documented diagnosis made at another Center, at any stage of the disease. Laboratory tests, imaging study for patient monitoring, and care procedures all will be conducted in accordance with normal clinical practice.
For the retrospective phase, patients whose diagnosis of CAH was made on or after 01/01/1960 will be enrolled, and observation related to this phase will be extended until this study is approved.
The study population is partly from direct access at the U.O.C. of Endocrinology and Diabetes Prevention and Treatment, as the regional referral center for this rare disease (congenital adrenal hyperplasia).
The potentially involved cohort is estimated to be about 30 patients at the time the registry was established. It is assumed that both retrospective and prospective phases can be completed in 15 subjects and retrospective alone in the remaining 15 subjects.
The registry may become the reference for calculating incidence and prevalence in Emilia Romagna of the disease under study.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- Male
- 接受健康志愿者
- 否
入选标准
- •Male gender;
- •Age 18 years or older;
- •Newly or previously diagnosed patients with CAH from 21-hydroxylase enzyme deficiency, in whom CYP21A2 gene analysis for determination of pathological mutations and genotype has already been performed;
- •Obtaining informed consent.
排除标准
- •Patients with an unsure diagnosis of CAH;
- •Patients with CAH caused by (or with the co-presence of) pathogenic molecular alterations other than mutations in the CYP21A2 gene.
结局指标
主要结局
Creation of an electronic registry
时间窗: through study completion, an average on 31 December 2032
The primary objective of the study is to create an electronic registry and, through the data contained therein, to describe the clinical-laboratory aspects, prevalence, and type of alterations in gonadal function of a cohort of male patients, aged 18 years or older, with congenital adrenal hyperplasia from 21-hydroxylase deficiency regardless of the time of diagnosis.
次要结局
未报告次要终点