Clinical trial NCT01873924: Clinical and Neuropsychological Investigations in Batten Disease
Official title: Clinical and Neuropsychological Investigations in Batten Disease
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Neuronal Ceroid Lipofuscinosis
Neuronal Ceroid Lipofuscinosis CLN1
Neuronal Ceroid Lipofuscinosis CLN2
Neuronal Ceroid Lipofuscinosis CLN3
Neuronal Ceroid Lipofuscinosis CLN5
Neuronal Ceroid Lipofuscinosis CLN6
Neuronal Ceroid Lipofuscinosis CLN7
Neuronal Ceroid Lipofuscinosis CLN8
Neuronal Ceroid Lipofuscinosis CLN10
Batten Disease
Keywords: Batten disease
NCL
Neuronal Ceroid Lipofuscinosis
Lead sponsor: University of Rochester
Sponsor class: OTHER
First posted: 2013-06-10
Enrollment: 500
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Individuals diagnosed with any form of Batten disease and their parents/legal guardians are eligible to take part in this study.

Brief summary: 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.

Detailed description: 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.

Eligibility criteria: 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

Primary outcomes:
measure: Unified Batten Disease Rating Scale (UBDRS), assessing the severity and change in physical, seizure, behavioral, and functional aspects of individuals with Batten Disease.
timeFrame: Annual Assessments for up to 20 years
Secondary outcomes:
measure: Cognitive and neurobehavioral functioning of individuals with Batten disease
timeFrame: Annual Assessments for up to 10 years
measure: Quantitative assessment of vision and retinal thickness
timeFrame: Annual Assessments for up to 20 years
Other outcomes:
Locations:
city: Rochester
country: United States
facility: University of Rochester
state: New York
Study officials:
affiliation: University of Rochester
name: Jonathan W Mink, MD PhD
role: PRINCIPAL_INVESTIGATOR
References: