Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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WITHDRAWN
OBSERVATIONAL
2021-07-27
2022-02-28
Brief Summary
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Detailed Description
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Conditions
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Study Design
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OTHER
CROSS_SECTIONAL
Study Groups
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Screening population
Screening for Fabry disease with early symptoms
Screening for Fabry disease
A questionnaire specifically designed to assess 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. The questionnaire consisted mainly of quantitative, closed questions with pre- defined response options.The diagnosis of FD will be performed by standard procedures following international recommendations. These require the search for a deficiency of alphagalactosidase A activity on leucocytes in males and genetic analysis of the GLA gene in females (Germain et al. 2010). In females plasma Gb3, globotriaosyl- sphingosine (lyso-Gb3) will be measured for screening.
Interventions
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Screening for Fabry disease
A questionnaire specifically designed to assess 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. The questionnaire consisted mainly of quantitative, closed questions with pre- defined response options.The diagnosis of FD will be performed by standard procedures following international recommendations. These require the search for a deficiency of alphagalactosidase A activity on leucocytes in males and genetic analysis of the GLA gene in females (Germain et al. 2010). In females plasma Gb3, globotriaosyl- sphingosine (lyso-Gb3) will be measured for screening.
Eligibility Criteria
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Inclusion Criteria
Exclusion Criteria
18 Years
ALL
No
Sponsors
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Children's Hospital of Nanjing Medical University
OTHER
The Children's Hospital of Zhejiang University School of Medicine
OTHER
Union Hospital, Tongji Medical College, Huazhong University of Science and Technology
OTHER
Children's Hospital Affiliated to Zhengzhou University/Henan Children's Hospital
UNKNOWN
Anhui Provincial Children's Hospital
OTHER
Beijing Children's Hospital
OTHER
Tianjin Children's Hospital
OTHER
Children's Hospital of Hebei Province
OTHER
Shanxi Provincial Maternity and Children's Hospital
OTHER
Xiamen Maternal and Child Care Hospital
UNKNOWN
First Affiliated Hospital, Sun Yat-Sen University
OTHER
Children's Hospital of Chongqing Medical University
OTHER
West China Second University Hospital
OTHER
Kunming Children's Hospital
OTHER
Xian Children's Hospital
OTHER_GOV
Shandong Provincial Hospital
OTHER_GOV
Xinjiang Urumqi Children's Hospital.
UNKNOWN
Hunan Children's Hospital
OTHER_GOV
Inner Mongolia Maternal and Child Healthcare Hospital
UNKNOWN
Sichuan provincial maternity and child health care hospital
UNKNOWN
Children's Hospital of Fudan University
OTHER
Responsible Party
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Locations
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Anhui Provincial Children's Hospital
Hefei, Anhui, China
Beijing children's hospital，capital medical university
Beijing, Beijing Municipality, China
Children's Hospital of Chongqing Medical University
Chongqing, Chongqing Municipality, China
First Affiliated Hospital, Sun Yat-Sen University
Guangzhou, Guangzhou, China
Children's Hospital of Hebei Province
Hebei, Hebei, China
Children's Hospital Affiliated to Zhengzhou University/Henan Children's Hospital
Zhengzhou, Henan, China
Wuhan Children's Hospital,Tongji Medical College, Huazhong University of Science and Technology.
Wuhan, Hubei, China
Hunan Children's Hospital
Hunan, Hunan, China
Inner Mongolia Maternity and Child Healthcare Hospital
Hohhot, Inner Mongolia, China
Children's Hospital of Nanjing Medical University
Nanjing, Jiangsu, China
Kunming Children's Hospital
Kunming, Kunming, China
Shandong Provincal Hospital
Shandong, Shandong, China
Shanxi Provincial Maternity and Children's Hospital
Shanxi, Shanxi, China
West China Second University Hospital, Sichuan University
Chengdu, Sichuan, China
Sichuan provincial maternity and child health care hospital
Sichuan, Sichuan, China
Tianjin Children's Hospital
Tianjin, Tianjin Municipality, China
Xiamen Maternal and Child Care Hospital
Xiamen, Xiamen, China
Xian Children's Hospital
Xi'an, Xian, China
Xinjiang Urumqi Children's Hospital.
Xinjiang, Xinjiang, China
The Children's Hospital of Zhejiang University School of Medicine
Hangzhou, Zhejiang, China
Children's Hospital of Fudan University
Shanghai, , China
Countries
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Other Identifiers
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ACE
Identifier Type: -
Identifier Source: org_study_id