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Fabry Aim Children Early (ACE) Project

24 september 2021 uppdaterad av: Children's Hospital of Fudan University

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.

Studieöversikt

Status

Indragen

Betingelser

Intervention / Behandling

Detaljerad beskrivning

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.

Studietyp

Observationell

Kontakter och platser

Det här avsnittet innehåller kontaktuppgifter för dem som genomför studien och information om var denna studie genomförs.

Studieorter

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

Deltagandekriterier

Forskare letar efter personer som passar en viss beskrivning, så kallade behörighetskriterier. Några exempel på dessa kriterier är en persons allmänna hälsotillstånd eller tidigare behandlingar.

Urvalskriterier

Åldrar som är berättigade till studier

Inte äldre än 18 år (Barn, Vuxen)

Tar emot friska volontärer

Nej

Kön som är behöriga för studier

Allt

Testmetod

Sannolikhetsprov

Studera befolkning

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.

Beskrivning

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.

Studieplan

Det här avsnittet ger detaljer om studieplanen, inklusive hur studien är utformad och vad studien mäter.

Hur är studien utformad?

Designdetaljer

Kohorter och interventioner

Grupp / Kohort
Intervention / Behandling
Screening population
Screening for Fabry disease with early symptoms
Diagnostiskt 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.

Vad mäter studien?

Primära resultatmått

Resultatmått
Åtgärdsbeskrivning
Tidsram
The proportion of Fabry disease
Tidsram: at the enrollment
The proportion of Fabry Disease in a defined population at risk
at the enrollment

Sekundära resultatmått

Resultatmått
Åtgärdsbeskrivning
Tidsram
The proportion of Fabry disease in predefined sub-populations
Tidsram: at the enrollment
The proportion of Fabry Disease in a defined population at risk
at the enrollment
The time between symptom onset and diagnosis
Tidsram: at the enrollment
The time between symptom onset and diagnosis
at the enrollment

Samarbetspartners och utredare

Det är här du hittar personer och organisationer som är involverade i denna studie.

Sponsor

Children's Hospital of Fudan University

Samarbetspartners

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

Studieavstämningsdatum

Dessa datum spårar framstegen för inlämningar av studieposter och sammanfattande resultat till ClinicalTrials.gov. Studieposter och rapporterade resultat granskas av National Library of Medicine (NLM) för att säkerställa att de uppfyller specifika kvalitetskontrollstandarder innan de publiceras på den offentliga webbplatsen.

Studera stora datum

Studiestart (Förväntat)

27 juli 2021

Primärt slutförande (Förväntat)

20 februari 2022

Avslutad studie (Förväntat)

28 februari 2022

Studieregistreringsdatum

Först inskickad

8 juli 2021

Först inskickad som uppfyllde QC-kriterierna

8 juli 2021

Första postat (Faktisk)

16 juli 2021

Uppdateringar av studier

Senaste uppdatering publicerad (Faktisk)

30 september 2021

Senaste inskickade uppdateringen som uppfyllde QC-kriterierna

24 september 2021

Senast verifierad

1 september 2021

Mer information

Termer relaterade till denna studie

Ytterligare relevanta MeSH-villkor

Andra studie-ID-nummer

  • ACE

Plan för individuella deltagardata (IPD)

Planerar du att dela individuella deltagardata (IPD)?

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