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Fabry Aim Children Early (ACE) Project

24. september 2021 oppdatert 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.

Studieoversikt

Status

Tilbaketrukket

Forhold

Intervensjon / Behandling

Detaljert 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.

Studietype

Observasjonsmessig

Kontakter og plasseringer

Denne delen inneholder kontaktinformasjon for de som utfører studien, og informasjon om hvor denne studien blir utført.

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

Deltakelseskriterier

Forskere ser etter personer som passer til en bestemt beskrivelse, kalt kvalifikasjonskriterier. Noen eksempler på disse kriteriene er en persons generelle helsetilstand eller tidligere behandlinger.

Kvalifikasjonskriterier

Alder som er kvalifisert for studier

Ikke eldre enn 18 år (Barn, Voksen)

Tar imot friske frivillige

Nei

Kjønn som er kvalifisert for studier

Alle

Prøvetakingsmetode

Sannsynlighetsprøve

Studiepopulasjon

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

Denne delen gir detaljer om studieplanen, inkludert hvordan studien er utformet og hva studien måler.

Hvordan er studiet utformet?

Designdetaljer

Kohorter og intervensjoner

Gruppe / Kohort
Intervensjon / 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.

Hva måler studien?

Primære resultatmål

Resultatmål
Tiltaksbeskrivelse
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
Tiltaksbeskrivelse
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

Samarbeidspartnere og etterforskere

Det er her du vil finne personer og organisasjoner som er involvert i denne studien.

Sponsor

Children's Hospital of Fudan University

Samarbeidspartnere

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

Studierekorddatoer

Disse datoene sporer fremdriften for innsending av studieposter og sammendragsresultater til ClinicalTrials.gov. Studieposter og rapporterte resultater gjennomgås av National Library of Medicine (NLM) for å sikre at de oppfyller spesifikke kvalitetskontrollstandarder før de legges ut på det offentlige nettstedet.

Studer hoveddatoer

Studiestart (Forventet)

27. juli 2021

Primær fullføring (Forventet)

20. februar 2022

Studiet fullført (Forventet)

28. februar 2022

Datoer for studieregistrering

Først innsendt

8. juli 2021

Først innsendt som oppfylte QC-kriteriene

8. juli 2021

Først lagt ut (Faktiske)

16. juli 2021

Oppdateringer av studieposter

Sist oppdatering lagt ut (Faktiske)

30. september 2021

Siste oppdatering sendt inn som oppfylte QC-kriteriene

24. september 2021

Sist bekreftet

1. september 2021

Mer informasjon

Begreper knyttet til denne studien

Ytterligere relevante MeSH-vilkår

Andre studie-ID-numre

  • ACE

Plan for individuelle deltakerdata (IPD)

Planlegger du å dele individuelle deltakerdata (IPD)?

UBESLUTTE

Legemiddel- og utstyrsinformasjon, studiedokumenter

Studerer et amerikansk FDA-regulert medikamentprodukt

Nei

Studerer et amerikansk FDA-regulert enhetsprodukt

Nei

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