Fabry Aim Children Early (ACE) Project

Fabry Disease Clinical Trial

Official title:

Fabry Aim Children Early (ACE) Project-Screening for Fabry Disease in a Pediatric Population at Risk

Clinical Trial Details — Status: Withdrawn

Administrative data

• NCT number: NCT04965467
• Other study ID #: ACE
• Status: Withdrawn
• Start date: July 27, 2021
• Est. completion date: February 28, 2022

Study information

• Verified date: September 2021
• Source: Children's Hospital of Fudan University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Withdrawn
• Enrollment: 0
• Est. completion date: February 28, 2022
• Est. primary completion date: February 20, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 18 Years

Eligibility

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.

Related Conditions & MeSH terms

• Fabry Disease

Intervention

Diagnostic Test:
• 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.

Locations

Country	Name	City	State
China	Beijing children's hospital,capital medical university	Beijing	Beijing
China	West China Second University Hospital, Sichuan University	Chengdu	Sichuan
China	Children's Hospital of Chongqing Medical University	Chongqing	Chongqing
China	First Affiliated Hospital, Sun Yat-Sen University	Guangzhou	Guangzhou
China	The Children's Hospital of Zhejiang University School of Medicine	Hangzhou	Zhejiang
China	Children's Hospital of Hebei Province	Hebei	Hebei
China	Anhui Provincial Children's Hospital	Hefei	Anhui
China	Inner Mongolia Maternity and Child Healthcare Hospital	Hohhot	Inner Mongolia Autonomous Region
China	Hunan Children's Hospital	Hunan	Hunan
China	Kunming Children's Hospital	Kunming	Kunming
China	Children's Hospital of Nanjing Medical University	Nanjing	Jiangsu
China	Shandong Provincal Hospital	Shandong	Shandong
China	Children's Hospital of Fudan University	Shanghai
China	Shanxi Provincial Maternity and Children's Hospital	Shanxi	Shanxi
China	Sichuan provincial maternity and child health care hospital	Sichuan	Sichuan
China	Tianjin Children's Hospital	Tianjin	Tianjin
China	Wuhan Children's Hospital,Tongji Medical College, Huazhong University of Science and Technology.	Wuhan	Hubei
China	Xian Children's Hospital	Xi'an	Xian
China	Xiamen Maternal and Child Care Hospital	Xiamen	Xiamen
China	Xinjiang Urumqi Children's Hospital.	Xinjiang	Xinjiang
China	Children's Hospital Affiliated to Zhengzhou University/Henan Children's Hospital	Zhengzhou	Henan

Sponsors (21)

Lead Sponsor

Collaborator

Children's Hospital of Fudan University

Anhui Provincial Children's Hospital, Beijing Children's Hospital, Children's Hospital Affiliated to Zhengzhou University/Henan Children's Hospital, Children's Hospital of Chongqing Medical University, Children's Hospital of Hebei Province, Children's Hospital of Nanjing Medical University, First Affiliated Hospital, Sun Yat-Sen University, Hunan Children's Hospital, Inner Mongolia Maternal and Child Healthcare Hospital, Kunming Children's Hospital, Shandong Provincal Hospital, Shanxi Provincial Maternity and Children's Hospital, Sichuan provincial maternity and child health care hospital, The Children's Hospital of Zhejiang University School of Medicine, Tianjin Children's Hospital, West China Second University Hospital, Sichuan University, Wuhan Union Hospital, China, Xiamen Maternal and Child Care Hospital, Xian Children's Hospital, Xinjiang Urumqi Children's Hospital.

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	The proportion of Fabry disease	The proportion of Fabry Disease in a defined population at risk	at the enrollment
Secondary	The proportion of Fabry disease in predefined sub-populations	The proportion of Fabry Disease in a defined population at risk	at the enrollment
Secondary	The time between symptom onset and diagnosis	The time between symptom onset and diagnosis	at the enrollment