Fabry DiseaseNCT04965467
Fabry Aim Children Early (ACE) Project
An observational study of Fabry Disease, run by Children's Hospital of Fudan University at 21 sites in China.
Trial summary
The purpose of this study is to assess the frequency of Fabry disease in children with early symptoms. Read more about this study
- Who is it for?
- Ages Up to 18 years
- Conditions the study is for
- Fabry Disease
- What is being tested?
- Screening for Fabry disease
- How many people
- 0 participants
- Where
- 21 sitesChina
- Study dates
- 27 Jul 2021to 28 Feb 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
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.
Who may be able to join
- 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.
Who cannot join
- Patient's parent(s) or legal guardian(s) are unable to understand the nature, scope, and possible consequences of the screening.
Trial locations and contacts
21 sites in 1 country.
21 sites in 1 country
China21 sites
Beijing children's hospital，capital medical university
Beijing, Beijing Municipality
West China Second University Hospital, Sichuan University
Chengdu, Sichuan
Children's Hospital of Chongqing Medical University
Chongqing, Chongqing Municipality
First Affiliated Hospital, Sun Yat-Sen University
Guangzhou, Guangzhou
The Children's Hospital of Zhejiang University School of Medicine
Hangzhou, Zhejiang
Children's Hospital of Hebei Province
Hebei, Hebei
Anhui Provincial Children's Hospital
Hefei, Anhui
Inner Mongolia Maternity and Child Healthcare Hospital
Hohhot, Inner Mongolia
Hunan Children's Hospital
Hunan, Hunan
Kunming Children's Hospital
Kunming, Kunming
Children's Hospital of Nanjing Medical University
Nanjing, Jiangsu
Shandong Provincal Hospital
Shandong, Shandong
Children's Hospital of Fudan University
Shanghai, 201102
Shanxi Provincial Maternity and Children's Hospital
Shanxi, Shanxi
Sichuan provincial maternity and child health care hospital
Sichuan, Sichuan
Tianjin Children's Hospital
Tianjin, Tianjin Municipality
Wuhan Children's Hospital,Tongji Medical College, Huazhong University of Science and Technology.
Wuhan, Hubei
Xian Children's Hospital
Xi'an, Xian
Xiamen Maternal and Child Care Hospital
Xiamen, Xiamen
Xinjiang Urumqi Children's Hospital.
Xinjiang, Xinjiang
Children's Hospital Affiliated to Zhengzhou University/Henan Children's Hospital
Zhengzhou, Henan
About this study
Official title: 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.
Read the 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.
- Conditions
- Fabry Disease
- Being tested
- Screening for Fabry disease
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Screening for Fabry diseaseDiagnostic 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.
| Study group | Role | What they receive |
|---|---|---|
| Screening population | Screening for Fabry disease with early symptoms Receives: Diagnostic Test: Screening for Fabry disease |
What is being measured
The primary outcome is the main question the study is designed to answer.
The proportion of Fabry disease
The proportion of Fabry Disease in a defined population at risk
Measured: at the enrollment
Secondary outcomes (2)
The proportion of Fabry disease in predefined sub-populations
The proportion of Fabry Disease in a defined population at risk
Measured: at the enrollment
The time between symptom onset and diagnosis
The time between symptom onset and diagnosis
Measured: at the enrollment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Jul 2021
- Study start27 Jul 2021 (estimated)
- Primary completion20 Feb 2022 (estimated)
- Study completion28 Feb 2022 (estimated)
Why it stopped: Withdrawn due to financial reasons
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Cross-sectional
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- Children's Hospital of Fudan University
- Sponsor type
- University, hospital or other
- Collaborators
- 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 Health Care Hospital, Sichuan provincial maternity and child health care hospital
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04965467
- Sponsor's protocol ID
- ACE
- Status last verified
- Sep 2021
- First submitted
- 8 Jul 2021
- Last updated
- 30 Sep 2021
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 30 Sep 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Fabry Aim Children Early (ACE) Project-Screening for Fabry Disease in a Pediatric Population at Risk
- ClinicalTrials.gov ID
- NCT04965467
- Acronym / sponsor ID
- ACE
- Conditions
- Fabry Disease
- Study type
- Observational
- Recruitment status
- WithdrawnReason stopped: Withdrawn due to financial reasons
- Enrolment
- 0 participants (actual)
- Lead sponsor
- Children's Hospital of Fudan UniversityUniversity, hospital or other
- Collaborators
- 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 Health Care Hospital, Sichuan provincial maternity and child health care hospital
- Study start
- 27 Jul 2021 (estimated)
- Primary completion
- 20 Feb 2022 (estimated)
- Study completion
- 28 Feb 2022 (estimated)
- First posted
- 16 Jul 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Other
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Screening population | – | Diagnostic Test: Screening for Fabry diseaseScreening for Fabry disease with early symptoms |
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- 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.
Key inclusion criteria (1 listed)
- 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.
Key exclusion criteria (1 listed)
- Patient's parent(s) or legal guardian(s) are unable to understand the nature, scope, and possible consequences of the screening.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Screening for Fabry diseaseA 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. | Diagnostic test | Screening population |
Primary outcome
The proportion of Fabry disease
Time frame: at the enrollment
The proportion of Fabry Disease in a defined population at risk
2 secondary outcomes
The proportion of Fabry disease in predefined sub-populations
Time frame: at the enrollment
The time between symptom onset and diagnosis
Time frame: at the enrollment
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Sep 2021.
- Individual participant dataSharing planned: Undecided
Related trials for Fabry Disease
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Therapeutic Implications of CMR Low Native T1 in Non-treated Non-hypertrophic Females With Fabry Disease (FD)
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Fabry Disease Registry & Pregnancy Sub-registry
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A Study to Evaluate the Effect of Venglustat Tablets on Neuropathic and Abdominal Pain in Male and Female Participants ≥16 Years of Age With Fabry Disease
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
21 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fabry Disease, run by Children's Hospital of Fudan University at 21 sites in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: withdrawn, as of the sponsor's last update on 30 Sep 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 21 sites in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was withdrawn before enrolling participants, so there are no results.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
The proportion of Fabry disease (time frame: at the enrollment). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Sep 2021.