We're building a better ClinicalTrials.gov. Check it out and tell us what you think!
Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu

Fabry Aim Children Early (ACE) Project

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04965467
Recruitment Status : Withdrawn (Withdrawn due to financial reasons)
First Posted : July 16, 2021
Last Update Posted : September 30, 2021
Sponsor:
Collaborators:
Children's Hospital of Nanjing Medical University
The Children's Hospital of Zhejiang University School of Medicine
Wuhan Union Hospital, China
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, Sichuan University
Kunming Children's Hospital
Xian Children's Hospital
Shandong Provincal 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
Information provided by (Responsible Party):
Children's Hospital of Fudan University

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

Condition or disease Intervention/treatment
Fabry Disease 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.

Layout table for study information
Study Type : Observational
Actual Enrollment : 0 participants
Observational Model: Other
Time Perspective: Cross-Sectional
Official Title: Fabry Aim Children Early (ACE) Project-Screening for Fabry Disease in a Pediatric Population at Risk
Estimated Study Start Date : July 27, 2021
Estimated Primary Completion Date : February 20, 2022
Estimated Study Completion Date : February 28, 2022

Resource links provided by the National Library of Medicine


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.




Primary Outcome Measures :
  1. The proportion of Fabry disease [ Time Frame: at the enrollment ]
    The proportion of Fabry Disease in a defined population at risk


Secondary Outcome Measures :
  1. The proportion of Fabry disease in predefined sub-populations [ Time Frame: at the enrollment ]
    The proportion of Fabry Disease in a defined population at risk

  2. The time between symptom onset and diagnosis [ Time Frame: at the enrollment ]
    The time between symptom onset and diagnosis


Biospecimen Retention:   Samples With DNA
Whole blood


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   up to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.
Criteria

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04965467


Locations
Show Show 21 study locations
Sponsors and Collaborators
Children's Hospital of Fudan University
Children's Hospital of Nanjing Medical University
The Children's Hospital of Zhejiang University School of Medicine
Wuhan Union Hospital, China
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, Sichuan University
Kunming Children's Hospital
Xian Children's Hospital
Shandong Provincal 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
Layout table for additonal information
Responsible Party: Children's Hospital of Fudan University
ClinicalTrials.gov Identifier: NCT04965467    
Other Study ID Numbers: ACE
First Posted: July 16, 2021    Key Record Dates
Last Update Posted: September 30, 2021
Last Verified: September 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
Layout table for MeSH terms
Fabry Disease
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
Metabolism, Inborn Errors
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders