Fabry Aim Children Early (ACE) Project

NCT04965467 | Withdrawn

• 1 other identifier: ACE
• Study Type: observational
• Target: N/A
• Locations: 1 country
• Sites: 21

Brief Summary

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

Conditions

Fabry Disease

Outcome Measures

Primary Outcomes (1)

• The proportion of Fabry disease

  The proportion of Fabry Disease in a defined population at risk

  at the enrollment

Secondary Outcomes (2)

• The proportion of Fabry disease in predefined sub-populations

  at the enrollment

• The time between symptom onset and diagnosis

  at the enrollment

Study Arms (1)

Screening population

Screening for Fabry disease with early symptoms

Diagnostic Test: Screening for Fabry disease

Interventions

Screening for Fabry disease DIAGNOSTIC_TEST

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.

Screening population

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• 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.

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

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

Study Sites (21)

Anhui Provincial Children's Hospital

Hefei, Anhui, China

Location

Beijing children's hospital，capital medical university

Beijing, Beijing Municipality, China

Location

Children's Hospital of Chongqing Medical University

Chongqing, Chongqing Municipality, China

Location

First Affiliated Hospital, Sun Yat-Sen University

Guangzhou, Guangzhou, China

Location

Children's Hospital of Hebei Province

Hebei, Hebei, China

Location

Children's Hospital Affiliated to Zhengzhou University/Henan Children's Hospital

Zhengzhou, Henan, China

Location

Wuhan Children's Hospital,Tongji Medical College, Huazhong University of Science and Technology.

Wuhan, Hubei, China

Location

Hunan Children's Hospital

Hunan, Hunan, China

Location

Inner Mongolia Maternity and Child Healthcare Hospital

Hohhot, Inner Mongolia, China

Location

Children's Hospital of Nanjing Medical University

Nanjing, Jiangsu, China

Location

Kunming Children's Hospital

Kunming, Kunming, China

Location

Shandong Provincal Hospital

Shandong, Shandong, China

Location

Shanxi Provincial Maternity and Children's Hospital

Shanxi, Shanxi, China

Location

West China Second University Hospital, Sichuan University

Chengdu, Sichuan, China

Location

Sichuan provincial maternity and child health care hospital

Sichuan, Sichuan, China

Location

Tianjin Children's Hospital

Tianjin, Tianjin Municipality, China

Location

Xiamen Maternal and Child Care Hospital

Xiamen, Xiamen, China

Location

Xian Children's Hospital

Xi'an, Xian, China

Location

Xinjiang Urumqi Children's Hospital.

Xinjiang, Xinjiang, China

Location

The Children's Hospital of Zhejiang University School of Medicine

Hangzhou, Zhejiang, China

Location

Children's Hospital of Fudan University

Shanghai, 201102, China

Location

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood

MeSH Terms

Conditions

Fabry Disease

Interventions

Mass Screening

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Intervention Hierarchy (Ancestors)

Diagnostic Techniques and Procedures; Diagnosis; Health Surveys; Surveys and Questionnaires; Data Collection; Epidemiologic Methods; Investigative Techniques; Diagnostic Services; Preventive Health Services; Health Services; Health Care Facilities Workforce and Services; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health; Public Health Practice

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 8, 2021
• First Posted: July 16, 2021
• Study Start: July 27, 2021
• Primary Completion: February 20, 2022
• Study Completion: February 28, 2022
• Last Updated: September 30, 2021

Record last verified: 2021-09

Locations

CN (21)