Kliniske og nevropsykologiske undersøkelser ved battens sykdom
This study aims to assess the natural history of Batten disease (Neuronal Ceroid Lipofuscinosis) by obtaining information about the motor, behavioral, and functional capabilities of individuals with Batten disease. This study will also refine and validate the Unified Batten Disease Rating Scale (UBDRS) as a clinical rating instrument for Batten disease.
Studieoversikt
Status
Forhold
- Batten sykdom
- Nevronal ceroid lipofuscinose
- Neuronal Ceroid Lipofuscinosis CLN6
- Neuronal Ceroid Lipofuscinosis CLN3
- Neuronal Ceroid Lipofuscinosis CLN5
- Neuronal Ceroid Lipofuscinosis CLN1
- Neuronal Ceroid Lipofuscinosis CLN2
- Neuronal Ceroid Lipofuscinosis CLN7
- Neuronal Ceroid Lipofuscinosis CLN8
- Neuronal Ceroid Lipofuscinosis CLN10
Detaljert beskrivelse
Batten Disease is an inherited disorder that causes progressive cognitive and behavioral decline in children. There have been no systematic clinical studies of Batten Disease using standardized rating instruments with known inter-rater reliability and validity.
The Batten Study Group developed the Unified Batten Disease Rating Scale (UBDRS), a clinical rating instrument used to assess the motor, behavioral, and functional capabilities of individuals with Batten disease. Using the UBDRS, study investigators will evaluate participants approximately every year to track disease progression. The UBDRS is the primary natural history tool, but the study also includes neuropsychological assessment, adaptive function, quality of life measures, and other measures to assess the impact of Batten Disease. Participants will be examined at the University of Rochester Batten Center, Batten Disease Support and Research Association annual meeting, or remotely via televideo. Information related to racial and ethnic background, medical history, symptoms, medications, and diagnostic testing will be collected.
Studietype
Registrering (Antatt)
Kontakter og plasseringer
Studiekontakt
- Navn: Amy Vierhile, RN PNP
- Telefonnummer: (585)275-4762
- E-post: amy_vierhile@urmc.rochester.edu
Studiesteder
-
-
New York
-
Rochester, New York, Forente stater, 14642
- Rekruttering
- University of Rochester
-
Ta kontakt med:
- Amy Vierhile, RN PNP
- Telefonnummer: (585) 275-4762
- E-post: amy_vierhile@urmc.rochester.edu
-
-
Deltakelseskriterier
Kvalifikasjonskriterier
Alder som er kvalifisert for studier
- Barn
- Voksen
- Eldre voksen
Tar imot friske frivillige
Kjønn som er kvalifisert for studier
Prøvetakingsmetode
Studiepopulasjon
Individuals diagnosed with any form of Batten disease and their parents/legal guardians are eligible to take part in this study.
Beskrivelse
Inclusion Criteria:
- child or adult with any form of Batten disease
- parent or legal guardian of a child or adult with any form of Batten disease
Exclusion Criteria:
- parent or guardian unable or unwilling to provide permission for the affected individual
Studieplan
Hvordan er studiet utformet?
Designdetaljer
- Observasjonsmodeller: COHORT
- Tidsperspektiver: PROSPECTIVE
Kohorter og intervensjoner
Gruppe / Kohort |
|---|
|
Batten disease
Individuals with any form of Batten disease (Neuronal Ceroid Lipofuscinosis) |
Hva måler studien?
Primære resultatmål
Resultatmål |
Tiltaksbeskrivelse |
Tidsramme |
|---|---|---|
|
Unified Batten Disease Rating Scale (UBDRS), assessing the severity and change in physical, seizure, behavioral, and functional aspects of individuals with Batten Disease.
Tidsramme: Annual Assessments for up to 20 years
|
A quantitative measure of natural history |
Annual Assessments for up to 20 years
|
Sekundære resultatmål
Resultatmål |
Tiltaksbeskrivelse |
Tidsramme |
|---|---|---|
|
Cognitive and neurobehavioral functioning of individuals with Batten disease
Tidsramme: Annual Assessments for up to 10 years
|
A standardized battery of neuropsychological tests and neurobehavioral assessments will be used to measure cognitive skills (e.g., verbal reasoning, attention, memory, language), mood, behavior, adaptive function, and quality of life. |
Annual Assessments for up to 10 years
|
|
Quantitative assessment of vision and retinal thickness
Tidsramme: Annual Assessments for up to 20 years
|
Vision and retinal thickness assessments include visual acuity, visual fields, fundus photography to document anatomic extent of disease, fundus autofluorescence to measure lipofuscin accumulation, and optical coherence tomography (OCT) to provide detailed images of retinal structure, measure retinal layers, and measure central macular thickness. |
Annual Assessments for up to 20 years
|
Samarbeidspartnere og etterforskere
Sponsor
Etterforskere
- Hovedetterforsker: Jonathan W Mink, MD PhD, University of Rochester
Studierekorddatoer
Studer hoveddatoer
Studiestart
Primær fullføring (Antatt)
Studiet fullført (Antatt)
Datoer for studieregistrering
Først innsendt
Først innsendt som oppfylte QC-kriteriene
Først lagt ut (Antatt)
Oppdateringer av studieposter
Sist oppdatering lagt ut (Faktiske)
Siste oppdatering sendt inn som oppfylte QC-kriteriene
Sist bekreftet
Mer informasjon
Begreper knyttet til denne studien
Nøkkelord
Ytterligere relevante MeSH-vilkår
- Sykdommer i nervesystemet
- Metabolisme, medfødte feil
- Genetiske sykdommer, medfødte
- Metabolske sykdommer
- Nevrodegenerative sykdommer
- Heredodegenerative lidelser, nervesystemet
- Lipidmetabolismeforstyrrelser
- Lipidmetabolisme, medfødte feil
- Lipidoser
- Medfødte, arvelige og neonatale sykdommer og abnormiteter
- Ernæringsmessige og metabolske sykdommer
- Nevronale ceroid-lipofuscinoser
Andre studie-ID-numre
- Batten Study
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. .