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Evaluation of Phenotypic Variability in Fabry Disease

1 december 2020 uppdaterad 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.

Studieöversikt

Status

Indragen

Betingelser

Detaljerad beskrivning

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.

Studietyp

Observationell

Kontakter och platser

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

Studieorter

  • Förenta staterna
    • Massachusetts
      • Boston, Massachusetts, Förenta staterna, 02115
        • Boston Children's Hospital

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

1 år och äldre (Barn, Vuxen, Äldre vuxen)

Tar emot friska volontärer

Nej

Kön som är behöriga för studier

Allt

Testmetod

Icke-sannolikhetsprov

Studera befolkning

Patients with a diagnosis of Fabry disease.

Beskrivning

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

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

Hur är studien utformad?

Designdetaljer

  • Observationsmodeller: Endast fall
  • Tidsperspektiv: Blivande

Vad mäter studien?

Primära resultatmått

Resultatmått
Åtgärdsbeskrivning
Tidsram
Globotriaosylceramide level, plasma
Tidsram: 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
Tidsram: 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
Tidsram: 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
Tidsram: 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
Tidsram: 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
Tidsram: 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
Tidsram: 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.

Sekundära resultatmått

Resultatmått
Åtgärdsbeskrivning
Tidsram
Transcriptome analysis
Tidsram: 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
Tidsram: 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
Tidsram: 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.
Tidsram: 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

Samarbetspartners och utredare

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

Sponsor

Boston Children's 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)

1 juli 2020

Primärt slutförande (Förväntat)

1 juli 2030

Avslutad studie (Förväntat)

1 juli 2030

Studieregistreringsdatum

Först inskickad

3 maj 2017

Först inskickad som uppfyllde QC-kriterierna

4 maj 2017

Första postat (Faktisk)

9 maj 2017

Uppdateringar av studier

Senaste uppdatering publicerad (Faktisk)

3 december 2020

Senaste inskickade uppdateringen som uppfyllde QC-kriterierna

1 december 2020

Senast verifierad

1 december 2020

Mer information

Termer relaterade till denna studie

Ytterligare relevanta MeSH-villkor

Andra studie-ID-nummer

  • IRB-P00022060

Plan för individuella deltagardata (IPD)

Planerar du att dela individuella deltagardata (IPD)?

Nej

Läkemedels- och apparatinformation, studiedokument

Studerar en amerikansk FDA-reglerad läkemedelsprodukt

Nej

Studerar en amerikansk FDA-reglerad produktprodukt

Nej

produkt tillverkad i och exporterad från U.S.A.

Nej

Denna information hämtades direkt från webbplatsen clinicaltrials.gov utan några ändringar. Om du har några önskemål om att ändra, ta bort eller uppdatera dina studieuppgifter, vänligen kontakta register@clinicaltrials.gov. Så snart en ändring har implementerats på clinicaltrials.gov, kommer denna att uppdateras automatiskt även på vår webbplats .

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