Natural History Study of Batten Disease

April 1, 2022 updated by: Amicus Therapeutics
This is a multicenter, international, study to assess the natural history data from people with Batten disease by collecting both retrospective and prospective information about the motor, behavioral and functional capabilities of patients. The study initially has 2 cohorts. Cohort 1 (n ≈ 75) includes subjects with CLN6 Batten disease. Cohort 2 (n ≈ 120) includes subjects with juvenile CLN3 Batten disease. Additional cohorts for other Batten disease subtypes may be added in the future.

Study Overview

Status

Terminated

Conditions

Study Type

Observational

Enrollment (Actual)

10

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • New York
      • Rochester, New York, United States, 14642
        • University of Rochester Medical Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Subjects diagnosed with CLN3 or CLN6 and their parents/legal guardians are eligible to take part in this study.

Description

Inclusion Criteria:

  • Subject has or had a diagnosis of CLN6 or CLN3 Batten disease that has been confirmed by genotyping (documented presence of a variant on both gene alleles). Confirmation of genotyping will be performed prior to enrollment.
  • Subject (or legally authorized representative) has provided written informed consent (or assent) and authorization for use and disclosure of personal health information or research related health information
  • Subjects may enroll starting from birth

Exclusion Criteria:

  • Subject has or had experienced another illness that is known to cause cognitive decline (eg, trauma, meningitis, hemorrhage)
  • Subject received or receives an investigational gene therapy

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Other

Cohorts and Interventions

Group / Cohort
Subjects with CLN6 Batten disease
Subjects with juvenile CLN3 Batten disease

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Assess the change over time in rating as determined using the Unified Batten Disease Rating Scale (UBDRS).
Time Frame: 10 years
The UBDRS is a clinical ratings instrument used specifically to assess motor, seizure, behavioral and functional capabilities.
10 years
Assess the change over time in rating as determined using the Hamburg Scale.
Time Frame: 10 years
The Hamburg scale is an established tool to capture the rate of decline or regression.
10 years
Assess the change over time in cognitive function using Mullen Scales of Early Learning (for children up to 60 months old).
Time Frame: 10 years
10 years
Assess the change over time in cognitive function using WPPSI-IV (for children up to 7 years 7 months old).
Time Frame: 10 years
10 years
Assess the change over time in cognitive function using WISC-V (for patients older than 6 years old).
Time Frame: 10 years
10 years
Characterize the age of onset of disease, including the timing of both the loss of capacities and the emergence of disease-related signs and symptoms
Time Frame: 10 years
10 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Amicus Therapeutics

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

April 27, 2021

Primary Completion (Actual)

March 11, 2022

Study Completion (Actual)

March 11, 2022

Study Registration Dates

First Submitted

October 27, 2020

First Submitted That Met QC Criteria

November 19, 2020

First Posted (Actual)

November 25, 2020

Study Record Updates

Last Update Posted (Actual)

April 11, 2022

Last Update Submitted That Met QC Criteria

April 1, 2022

Last Verified

April 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • BAT-001

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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