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Fabry Aim Children Early (ACE) Project

24. september 2021 opdateret af: 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.

Studieoversigt

Status

Trukket tilbage

Betingelser

Intervention / Behandling

Detaljeret beskrivelse

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.

Undersøgelsestype

Observationel

Kontakter og lokationer

Dette afsnit indeholder kontaktoplysninger for dem, der udfører undersøgelsen, og oplysninger om, hvor denne undersøgelse udføres.

Studiesteder

  • 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

Deltagelseskriterier

Forskere leder efter personer, der passer til en bestemt beskrivelse, kaldet berettigelseskriterier. Nogle eksempler på disse kriterier er en persons generelle helbredstilstand eller tidligere behandlinger.

Berettigelseskriterier

Aldre berettiget til at studere

Ikke ældre end 18 år (Barn, Voksen)

Tager imod sunde frivillige

Ingen

Køn, der er berettiget til at studere

Alle

Prøveudtagningsmetode

Sandsynlighedsprøve

Studiebefolkning

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.

Beskrivelse

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

Dette afsnit indeholder detaljer om studieplanen, herunder hvordan undersøgelsen er designet, og hvad undersøgelsen måler.

Hvordan er undersøgelsen tilrettelagt?

Design detaljer

Kohorter og interventioner

Gruppe / kohorte
Intervention / Behandling
Screening population
Screening for Fabry disease with early symptoms
Diagnostisk 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.

Hvad måler undersøgelsen?

Primære resultatmål

Resultatmål
Foranstaltningsbeskrivelse
Tidsramme
The proportion of Fabry disease
Tidsramme: at the enrollment
The proportion of Fabry Disease in a defined population at risk
at the enrollment

Sekundære resultatmål

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

Samarbejdspartnere og efterforskere

Det er her, du vil finde personer og organisationer, der er involveret i denne undersøgelse.

Sponsor

Children's Hospital of Fudan University

Samarbejdspartnere

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

Datoer for undersøgelser

Disse datoer sporer fremskridtene for indsendelser af undersøgelsesrekord og resumeresultater til ClinicalTrials.gov. Studieregistreringer og rapporterede resultater gennemgås af National Library of Medicine (NLM) for at sikre, at de opfylder specifikke kvalitetskontrolstandarder, før de offentliggøres på den offentlige hjemmeside.

Studer store datoer

Studiestart (Forventet)

27. juli 2021

Primær færdiggørelse (Forventet)

20. februar 2022

Studieafslutning (Forventet)

28. februar 2022

Datoer for studieregistrering

Først indsendt

8. juli 2021

Først indsendt, der opfyldte QC-kriterier

8. juli 2021

Først opslået (Faktiske)

16. juli 2021

Opdateringer af undersøgelsesjournaler

Sidste opdatering sendt (Faktiske)

30. september 2021

Sidste opdatering indsendt, der opfyldte kvalitetskontrolkriterier

24. september 2021

Sidst verificeret

1. september 2021

Mere information

Begreber relateret til denne undersøgelse

Yderligere relevante MeSH-vilkår

Andre undersøgelses-id-numre

  • ACE

Plan for individuelle deltagerdata (IPD)

Planlægger du at dele individuelle deltagerdata (IPD)?

UBESLUTET

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Kliniske forsøg med Fabrys sygdom

Kliniske forsøg med Screening for Fabry disease

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Sponsorer og samarbejdspartnere

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Betingelser

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Sponsor / samarbejdspartnere

Placeringer

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