Health TrialsbyHealthPanel

Clinical and Neuropsychological Investigations in Batten Disease

ConditionsNeuronal Ceroid LipofuscinosisNeuronal Ceroid Lipofuscinosis CLN1Neuronal Ceroid Lipofuscinosis CLN2Neuronal Ceroid Lipofuscinosis CLN3Neuronal Ceroid Lipofuscinosis CLN5Neuronal Ceroid Lipofuscinosis CLN6Neuronal Ceroid Lipofuscinosis CLN7Neuronal Ceroid Lipofuscinosis CLN8Neuronal Ceroid Lipofuscinosis CLN10Batten Disease
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorUniversity of Rochester

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

child or adult with any form of Batten disease

parent or legal guardian of a child or adult with any form of Batten disease

Disqualifiers

None

Trial population

Individuals diagnosed with any form of Batten disease and their parents/legal guardians are eligible to take part in this study.

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

Not listed

Trial groups

500 Participants
are grouped into 1 trial group
Group A: Batten disease

Trial outcomes

Primary outcomes

1

Unified Batten Disease Rating Scale (UBDRS), assessing the severity and change in physical, seizure, behavioral, and functional aspects of individuals with Batten Disease.

A quantitative measure of natural history

Time frame
Annual Assessments for up to 20 years

Secondary outcomes

1

Cognitive and neurobehavioral functioning of individuals with Batten disease

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.

Time frame
Annual Assessments for up to 10 years
2

Quantitative assessment of vision and retinal thickness

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.

Time frame
Annual Assessments for up to 20 years

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

University of Rochester

Lead sponsor

Source ClinicalTrials.gov
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