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Evaluation of Phenotypic Variability in Fabry Disease

1. desember 2020 oppdatert av: Farrah Rajabi, Boston Children's Hospital
Cerebrovascular events, such as stroke, are a devastating complication of Fabry disease that results in part from storage of complex lipids in both large and small vessels. Understanding how the genotype influences the phenotype or clinical presentation can help us understand which patients are at risk for the complications of Fabry disease. This study aims to follow the natural history of this disease will help us understand and predict long-term outcomes for patients.

Studieoversikt

Status

Tilbaketrukket

Forhold

Detaljert beskrivelse

This longitudinal study will be conducted at Boston Children's Hospital (BCH). Subjects recruited for the study will have routine clinical care assessment with a complete physical and neurological exam and biochemical monitoring with venipuncture. In addition as part of the study, subjects will be given questionnaires to assess details of medical and psychosocial history, will complete self-reported measures of neuropsychological evaluation, pain scores, quality of life, executive functioning and cognitive functioning. All patients assessments will be repeated every 2 years.

Studietype

Observasjonsmessig

Kontakter og plasseringer

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

Studiesteder

  • Forente stater
    • Massachusetts
      • Boston, Massachusetts, Forente stater, 02115
        • Boston Children's Hospital

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

1 år og eldre (Barn, Voksen, Eldre voksen)

Tar imot friske frivillige

Nei

Kjønn som er kvalifisert for studier

Alle

Prøvetakingsmetode

Ikke-sannsynlighetsprøve

Studiepopulasjon

Patients with a diagnosis of Fabry disease.

Beskrivelse

Inclusion Criteria:

  • Individuals who carry a classic alpha-galactosidase gene (GLA) mutation
  • All ages
  • Medical records available including previous genetic testing.
  • Capable of providing informed consent with assent for patients less than 18 years
  • Not currently involved in any other clinical trials.

Exclusion Criteria:

  • No medical records available
  • No record of genotype
  • Not capable of providing informed consent
  • Currently involved in any clinical trial

Studieplan

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

Hvordan er studiet utformet?

Designdetaljer

  • Observasjonsmodeller: Bare etui
  • Tidsperspektiver: Potensielle

Hva måler studien?

Primære resultatmål

Resultatmål
Tiltaksbeskrivelse
Tidsramme
Globotriaosylceramide level, plasma
Tidsramme: Data will be obtained and studied every 2 years for up to 10 years.
Biomarker for deficiency of alpha-galactosidase A (GLA) activity measured to determine if there are changes over time.
Data will be obtained and studied every 2 years for up to 10 years.
Globotriaosylceramide level, urine
Tidsramme: Data will be obtained and studied every 2 years for up to 10 years.
Biomarker for deficiency of alpha-galactosidase A (GLA) activity measured to determine if there are changes over time.
Data will be obtained and studied every 2 years for up to 10 years.
Intelligence scale assessment
Tidsramme: Data will be obtained and studied every 2 years for up to 10 years.
Wechsler Adult Intelligence Scale - Revised (WAIS-R) to assess for any changes in intelligence scale over time.
Data will be obtained and studied every 2 years for up to 10 years.
Quality of life questionnaire
Tidsramme: Data will be obtained and studied every 2 years for up to 10 years.
Single score based on questionnaire about quality of life to assess for any changes in scores over time.
Data will be obtained and studied every 2 years for up to 10 years.
Executive functioning test
Tidsramme: Data will be obtained and studied every 2 years for up to 10 years.
Single score based on testing of digit span backwards test, letter fluency, and category fluency to assess any changes in executive function over time.
Data will be obtained and studied every 2 years for up to 10 years.
Pain questionnaire
Tidsramme: Data will be obtained and studied every 2 years for up to 10 years.
Single score based on questionnaire about pain to evaluate progression of pain scores over time.
Data will be obtained and studied every 2 years for up to 10 years.
Physical exam
Tidsramme: Data will be obtained and studied every 2 years for up to 10 years.
Physical exam to evaluate for the development of angiokeratoma lesions and neurological symptoms development over time.
Data will be obtained and studied every 2 years for up to 10 years.

Sekundære resultatmål

Resultatmål
Tiltaksbeskrivelse
Tidsramme
Transcriptome analysis
Tidsramme: Data will be obtained and studied every 2 years for up to 10 years.
High-throughput RNA sequencing will be done on plasma and peripheral blood lymphocytes to evaluate for changes over time.
Data will be obtained and studied every 2 years for up to 10 years.
Metabolomic analysis
Tidsramme: Data will be obtained and studied every 2 years for up to 10 years.
Comprehensive metabolite mapping of biochemical pathways to determine any metabolomic pathway changes in Fabry disease patients over time.
Data will be obtained and studied every 2 years for up to 10 years.
Microbiome analysis
Tidsramme: Data will be obtained and studied every 2 years for up to 10 years.
Optional stool sample will be obtained for microbiome analysis to detect the microbiome progression over time in Fabry disease patients.
Data will be obtained and studied every 2 years for up to 10 years.
Targeted exome sequencing for evaluation of potential modifiers of Fabry disease phenotype.
Tidsramme: Data will be obtained one time at initial study visit
Investigators will analyze sequencing results to determine the ability of whole exome sequencing to detect pathogenic modifiers of the Fabry disease phenotype.
Data will be obtained one time at initial study visit

Samarbeidspartnere og etterforskere

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

Sponsor

Boston Children's 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)

1. juli 2020

Primær fullføring (Forventet)

1. juli 2030

Studiet fullført (Forventet)

1. juli 2030

Datoer for studieregistrering

Først innsendt

3. mai 2017

Først innsendt som oppfylte QC-kriteriene

4. mai 2017

Først lagt ut (Faktiske)

9. mai 2017

Oppdateringer av studieposter

Sist oppdatering lagt ut (Faktiske)

3. desember 2020

Siste oppdatering sendt inn som oppfylte QC-kriteriene

1. desember 2020

Sist bekreftet

1. desember 2020

Mer informasjon

Begreper knyttet til denne studien

Ytterligere relevante MeSH-vilkår

Andre studie-ID-numre

  • IRB-P00022060

Plan for individuelle deltakerdata (IPD)

Planlegger du å dele individuelle deltakerdata (IPD)?

Nei

Legemiddel- og utstyrsinformasjon, studiedokumenter

Studerer et amerikansk FDA-regulert medikamentprodukt

Nei

Studerer et amerikansk FDA-regulert enhetsprodukt

Nei

produkt produsert i og eksportert fra USA

Nei

Denne informasjonen ble hentet direkte fra nettstedet clinicaltrials.gov uten noen endringer. Hvis du har noen forespørsler om å endre, fjerne eller oppdatere studiedetaljene dine, vennligst kontakt register@clinicaltrials.gov. Så snart en endring er implementert på clinicaltrials.gov, vil denne også bli oppdatert automatisk på nettstedet vårt. .

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