Fabry Aim Children Early (ACE) Project

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

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

Study Overview

• Status: Withdrawn
• Conditions: Fabry Disease
• Intervention / Treatment: Diagnostic test: Screening for Fabry disease

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.

• Study Type: Observational

Contacts and Locations

Study Locations

• China
  • Shanghai, China, 201102
    • Children's Hospital of Fudan University
  • Anhui
    • Hefei, Anhui, China
      • Anhui Provincial Children's Hospital
  • Beijing
    • Beijing, Beijing, China
      • Beijing Children's Hospital，Capital Medical University
  • Chongqing
    • Chongqing, Chongqing, China
      • Children's Hospital of Chongqing Medical University
  • Guangzhou
    • Guangzhou, Guangzhou, China
      • First Affiliated Hospital, Sun Yat-Sen University
  • Hebei
    • Hebei, Hebei, China
      • Children's Hospital of Hebei Province
  • Henan
    • Zhengzhou, Henan, China
      • Children's Hospital Affiliated to Zhengzhou University/Henan Children's Hospital
  • Hubei
    • Wuhan, Hubei, China
      • Wuhan Children's Hospital,Tongji Medical College, Huazhong University of Science and Technology.
  • Hunan
    • Hunan, Hunan, China
      • Hunan Children's Hospital
  • Inner Mongolia Autonomous Region
    • Hohhot, Inner Mongolia Autonomous Region, China
      • Inner Mongolia Maternity and Child Healthcare Hospital
  • Jiangsu
    • Nanjing, Jiangsu, China
      • Children's Hospital of Nanjing Medical University
  • Kunming
    • Kunming, Kunming, China
      • Kunming Children's Hospital
  • Shandong
    • Shandong, Shandong, China
      • Shandong Provincal Hospital
  • Shanxi
    • Shanxi, Shanxi, China
      • Shanxi Provincial Maternity and Children's Hospital
  • Sichuan
    • Chengdu, Sichuan, China
      • West China Second University Hospital, Sichuan University
    • Sichuan, Sichuan, China
      • Sichuan provincial maternity and child health care hospital
  • Tianjin
    • Tianjin, Tianjin, China
      • Tianjin Children's Hospital
  • Xiamen
    • Xiamen, Xiamen, China
      • Xiamen Maternal and Child Care Hospital
  • Xian
    • Xi'an, Xian, China
      • Xian Children's Hospital
  • Xinjiang
    • Xinjiang, Xinjiang, China
      • Xinjiang Urumqi Children's Hospital.
  • Zhejiang
    • Hangzhou, Zhejiang, China
      • The Children's Hospital of Zhejiang University School of Medicine

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 18 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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.

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

Intervention / Treatment

Screening population; Screening for Fabry disease with early symptoms

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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
The proportion of Fabry disease	The proportion of Fabry Disease in a defined population at risk	at the enrollment

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
The proportion of Fabry disease in predefined sub-populations	The proportion of Fabry Disease in a defined population at risk	at the enrollment
The time between symptom onset and diagnosis	The time between symptom onset and diagnosis	at the enrollment

Collaborators and Investigators

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

Study record dates

Study Major Dates

• Study Start (Anticipated): July 27, 2021
• Primary Completion (Anticipated): February 20, 2022
• Study Completion (Anticipated): February 28, 2022

Study Registration Dates

• First Submitted: July 8, 2021
• First Submitted That Met QC Criteria: July 8, 2021
• First Posted (Actual): July 16, 2021

Study Record Updates

• Last Update Posted (Actual): September 30, 2021
• Last Update Submitted That Met QC Criteria: September 24, 2021
• Last Verified: September 1, 2021

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Cardiovascular Diseases; Vascular Diseases; Metabolic Diseases; Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Cerebral Small Vessel Diseases; Lipidoses; Lipid Metabolism, Inborn Errors; Fabry Disease
• Other Study ID Numbers: ACE

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No