Fabry Aim Children Early (ACE) Project

Summary

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

Conditions

• Fabry Disease

Interventions

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.

Sponsors & Collaborators

• Children's Hospital of Nanjing Medical University

  collaborator OTHER

• The Children's Hospital of Zhejiang University School of Medicine

  collaborator OTHER

• Union Hospital, Tongji Medical College, Huazhong University of Science and Technology

  collaborator OTHER

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

  collaborator UNKNOWN

• Anhui Provincial Children's Hospital

  collaborator OTHER

• Beijing Children's Hospital

  collaborator OTHER

• Tianjin Children's Hospital

  collaborator OTHER

• Children's Hospital of Hebei Province

  collaborator OTHER

• Shanxi Provincial Maternity and Children's Hospital

  collaborator OTHER

• Xiamen Maternal and Child Care Hospital

  collaborator UNKNOWN

• First Affiliated Hospital, Sun Yat-Sen University

  collaborator OTHER

• Children's Hospital of Chongqing Medical University

  collaborator OTHER

• West China Second University Hospital

  collaborator OTHER

• Kunming Children's Hospital

  collaborator OTHER

• Xian Children's Hospital

  collaborator OTHER_GOV

• Shandong Provincial Hospital

  collaborator OTHER_GOV

• Xinjiang Urumqi Children's Hospital.

  collaborator UNKNOWN

• Hunan Children's Hospital

  collaborator OTHER_GOV

• Inner Mongolia Maternal and Child Healthcare Hospital

  collaborator UNKNOWN

• Sichuan provincial maternity and child health care hospital

  collaborator UNKNOWN

• Children's Hospital of Fudan University

  lead OTHER

Eligibility

Max Age

18 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2021-07-27

Primary Completion

2022-02-20

Completion

2022-02-28

Countries

• China

Study Locations