Clinical trial NCT04965467: Fabry Aim Children Early (ACE) Project
Official title: Fabry Aim Children Early (ACE) Project-Screening for Fabry Disease in a Pediatric Population at Risk
Study type: OBSERVATIONAL
Overall status: WITHDRAWN
Conditions: Fabry Disease
Lead sponsor: Children's Hospital of Fudan University
Sponsor class: OTHER
Collaborators: name: Children's Hospital of Nanjing Medical University
name: The Children's Hospital of Zhejiang University School of Medicine
name: Wuhan Union Hospital, China
name: Children's Hospital Affiliated to Zhengzhou University/Henan Children's Hospital
name: Anhui Provincial Children's Hospital
name: Beijing Children's Hospital
name: Tianjin Children's Hospital
name: Children's Hospital of Hebei Province
name: Shanxi Provincial Maternity and Children's Hospital
name: Xiamen Maternal and Child Care Hospital
name: First Affiliated Hospital, Sun Yat-Sen University
name: Children's Hospital of Chongqing Medical University
name: West China Second University Hospital
name: Kunming Children's Hospital
name: Xian Children's Hospital
name: Shandong Provincial Hospital
name: Xinjiang Urumqi Children's Hospital.
name: Hunan Children's Hospital
name: Inner Mongolia Maternal and Child Healthcare Hospital
name: Sichuan provincial maternity and child health care hospital
First posted: 2021-07-16
Enrollment: 0
Sex: ALL
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: CROSS_SECTIONAL
Sampling method: PROBABILITY_SAMPLE
Study population: Patients with fabry disease-associated phenotypes in infancy, childhood and adolescence: pain in the hands and feet, angiokeratomas, hypohidrosis, corneal whorls, unexplained renal failure, unexplained hypertrophic myocardiopathy and unexplained early onset stroke.

Brief summary: The purpose of this study is to assess the frequency of Fabry disease in children with early symptoms.

Detailed description: Fabry disease is a complex, multisystemic and clinically heterogeneous disease that commonly presents in childhood and is caused by deficient activity of the lysosomal enzyme alpha-galactosidaseA (α-gal A). Symptoms of Fabry disease in the pediatric population are well described. Symptoms can occur in early childhood, before age 5 years. Incidence estimations of Fabry disease vary widely. The true incidence is likely to be higher than originally thought, owing to the existence of milder variants of the disease. The purpose of this study is to assess the frequency of Fabry disease in children with early symptoms. Patients would benefit from early diagnosis, appropriate treatment, follow-up and surveillance. Early detection of Fabry patients would also benefit affected relatives, many of whom do not have a clear diagnosis of their clinical condition.

Eligibility criteria: Inclusion Criteria:

* Patients with fabry disease-associated phenotypes in infancy, childhood and adolescence: pain in the hands and feet, angiokeratomas, hypohidrosis, corneal whorls, unexplained renal failure, unexplained hypertrophic myocardiopathy and unexplained early onset stroke.

Exclusion Criteria:

* Patient's parent(s) or legal guardian(s) are unable to understand the nature, scope, and possible consequences of the screening.

Primary outcomes:
measure: The proportion of Fabry disease
timeFrame: at the enrollment
Secondary outcomes:
measure: The proportion of Fabry disease in predefined sub-populations
timeFrame: at the enrollment
measure: The time between symptom onset and diagnosis
timeFrame: at the enrollment
Other outcomes:
Locations:
city: Hefei
country: China
facility: Anhui Provincial Children's Hospital
state: Anhui
city: Beijing
country: China
facility: Beijing children's hospital，capital medical university
state: Beijing
city: Chongqing
country: China
facility: Children's Hospital of Chongqing Medical University
state: Chongqing
city: Guangzhou
country: China
facility: First Affiliated Hospital, Sun Yat-Sen University
state: Guangzhou
city: Hebei
country: China
facility: Children's Hospital of Hebei Province
state: Hebei
city: Zhengzhou
country: China
facility: Children's Hospital Affiliated to Zhengzhou University/Henan Children's Hospital
state: Henan
city: Wuhan
country: China
facility: Wuhan Children's Hospital,Tongji Medical College, Huazhong University of Science and Technology.
state: Hubei
city: Hunan
country: China
facility: Hunan Children's Hospital
state: Hunan
city: Hohhot
country: China
facility: Inner Mongolia Maternity and Child Healthcare Hospital
state: Inner Mongolia Autonomous Region
city: Nanjing
country: China
facility: Children's Hospital of Nanjing Medical University
state: Jiangsu
city: Kunming
country: China
facility: Kunming Children's Hospital
state: Kunming
city: Shandong
country: China
facility: Shandong Provincal Hospital
state: Shandong
city: Shanxi
country: China
facility: Shanxi Provincial Maternity and Children's Hospital
state: Shanxi
city: Chengdu
country: China
facility: West China Second University Hospital, Sichuan University
state: Sichuan
city: Sichuan
country: China
facility: Sichuan provincial maternity and child health care hospital
state: Sichuan
city: Tianjin
country: China
facility: Tianjin Children's Hospital
state: Tianjin
city: Xiamen
country: China
facility: Xiamen Maternal and Child Care Hospital
state: Xiamen
city: Xi'an
country: China
facility: Xian Children's Hospital
state: Xian
city: Xinjiang
country: China
facility: Xinjiang Urumqi Children's Hospital.
state: Xinjiang
city: Hangzhou
country: China
facility: The Children's Hospital of Zhejiang University School of Medicine
state: Zhejiang
city: Shanghai
country: China
facility: Children's Hospital of Fudan University
Study officials:
References: