Kliniska och neuropsykologiska undersökningar vid battens sjukdom
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.
Studieöversikt
Status
Betingelser
- Battens sjukdom
- Neuronal Ceroid Lipofuscinosis
- 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
Detaljerad beskrivning
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.
Studietyp
Inskrivning (Beräknad)
Kontakter och platser
Studiekontakt
- Namn: Amy Vierhile, RN PNP
- Telefonnummer: (585)275-4762
- E-post: amy_vierhile@urmc.rochester.edu
Studieorter
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New York
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Rochester, New York, Förenta staterna, 14642
- Rekrytering
- University of Rochester
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Kontakt:
- Amy Vierhile, RN PNP
- Telefonnummer: (585) 275-4762
- E-post: amy_vierhile@urmc.rochester.edu
-
-
Deltagandekriterier
Urvalskriterier
Åldrar som är berättigade till studier
- Barn
- Vuxen
- Äldre vuxen
Tar emot friska volontärer
Kön som är behöriga för studier
Testmetod
Studera befolkning
Individuals diagnosed with any form of Batten disease and their parents/legal guardians are eligible to take part in this study.
Beskrivning
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
Hur är studien utformad?
Designdetaljer
- Observationsmodeller: COHORT
- Tidsperspektiv: PROSPECTIVE
Kohorter och interventioner
Grupp / Kohort |
|---|
|
Batten disease
Individuals with any form of Batten disease (Neuronal Ceroid Lipofuscinosis) |
Vad mäter studien?
Primära resultatmått
Resultatmått |
Åtgärdsbeskrivning |
Tidsram |
|---|---|---|
|
Unified Batten Disease Rating Scale (UBDRS), assessing the severity and change in physical, seizure, behavioral, and functional aspects of individuals with Batten Disease.
Tidsram: Annual Assessments for up to 20 years
|
A quantitative measure of natural history |
Annual Assessments for up to 20 years
|
Sekundära resultatmått
Resultatmått |
Åtgärdsbeskrivning |
Tidsram |
|---|---|---|
|
Cognitive and neurobehavioral functioning of individuals with Batten disease
Tidsram: 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
Tidsram: 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
|
Samarbetspartners och utredare
Sponsor
Utredare
- Huvudutredare: Jonathan W Mink, MD PhD, University of Rochester
Studieavstämningsdatum
Studera stora datum
Studiestart
Primärt slutförande (Beräknad)
Avslutad studie (Beräknad)
Studieregistreringsdatum
Först inskickad
Först inskickad som uppfyllde QC-kriterierna
Första postat (Beräknad)
Uppdateringar av studier
Senaste uppdatering publicerad (Faktisk)
Senaste inskickade uppdateringen som uppfyllde QC-kriterierna
Senast verifierad
Mer information
Termer relaterade till denna studie
Nyckelord
Ytterligare relevanta MeSH-villkor
- Sjukdomar i nervsystemet
- Metabolism, medfödda fel
- Genetiska sjukdomar, medfödda
- Metaboliska sjukdomar
- Neurodegenerativa sjukdomar
- Heredodegenerativa störningar, nervsystemet
- Lipidmetabolismstörningar
- Lipidmetabolism, medfödda fel
- Lipidoser
- Medfödda, ärftliga och neonatala sjukdomar och abnormiteter
- Närings- och metabola sjukdomar
- Neuronala ceroid-lipofuscinoser
Andra studie-ID-nummer
- Batten Study
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