Fabry Disease
Conditions
Brief summary
The purpose of this study is to assess the frequency of Fabry disease in children with early symptoms.
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.
Interventions
DIAGNOSTIC_TESTScreening 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
Children's Hospital of Nanjing Medical University
The Children's Hospital of Zhejiang University School of Medicine
Union Hospital, Tongji Medical College, Huazhong University of Science and Technology
Children's Hospital Affiliated to Zhengzhou University/Henan Children's Hospital
Anhui Provincial Children's Hospital
Beijing Children's Hospital
Tianjin Children's Hospital
Children's Hospital of Hebei Province
Shanxi Provincial Maternity and Children's Hospital
Xiamen Maternal and Child Care Hospital
First Affiliated Hospital, Sun Yat-Sen University
Children's Hospital of Chongqing Medical University
West China Second University Hospital
Kunming Children's Hospital
Xian Children's Hospital
Shandong Provincial Hospital
Xinjiang Urumqi Children's Hospital.
Hunan Children's Hospital
Inner Mongolia Maternal and Child Healthcare Hospital
Sichuan provincial maternity and child health care hospital
Children's Hospital of Fudan University
Study design
Observational model
OTHER
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
No minimum to 18 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| The proportion of Fabry disease | at the enrollment | The proportion of Fabry Disease in a defined population at risk |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| The proportion of Fabry disease in predefined sub-populations | at the enrollment | The proportion of Fabry Disease in a defined population at risk |
| The time between symptom onset and diagnosis | at the enrollment | The time between symptom onset and diagnosis |
Countries
China
Outcome results
None listed