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TerminatedNCT04644549Updated Jul 30, 2025

Natural History Study of Batten Disease

An observational study in Batten Disease, Neuronal Ceroid Lipofuscinosis CLN6 and Neuronal Ceroid Lipofuscinosis CLN3, sponsored by Emily de los Reyes. Terminated at 1 site in United States. Per ClinicalTrials.gov, last updated 2025-07-30.

Sponsored by Emily de los Reyes · Observational

Why this study was terminated
study terminated following strategic portfolio and R\&D alignment
Study type
Observational
Model
Cohort
Time perspective
Other
Enrollment
10
Sex
All
01

Study summary

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.

02

Conditions studied

  • Batten Disease
  • Neuronal Ceroid Lipofuscinosis CLN6
  • Neuronal Ceroid Lipofuscinosis CLN3

Keywords

  • Neuronal ceroid lipofuscinosis (NCL)
  • CLN6
  • vLINCL6
  • CLN6 Batten Disease
  • Batten Disease
  • CLN3
  • CLN3 Batten Disease
  • variant late infantile
03

Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
No
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.

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

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
04

Study design

Observational model
Cohort
Time perspective
Other
Enrollment
10 participants (actual)
Patient registry
No

Groups and cohorts

  • Subjects with CLN6 Batten disease
  • Subjects with juvenile CLN3 Batten disease
05

What researchers measure

Primary outcomes

  1. Assess the change over time in rating as determined using the Unified Batten Disease Rating Scale (UBDRS).

    The UBDRS is a clinical ratings instrument used specifically to assess motor, seizure, behavioral and functional capabilities.

    Time frame: 10 years

  2. Assess the change over time in rating as determined using the Hamburg Scale.

    The Hamburg scale is an established tool to capture the rate of decline or regression.

    Time frame: 10 years

  3. 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

  4. Assess the change over time in cognitive function using WPPSI-IV (for children up to 7 years 7 months old).

    Time frame: 10 years

  5. Assess the change over time in cognitive function using WISC-V (for patients older than 6 years old).

    Time frame: 10 years

  6. 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

06

Study locations

1 site
  • University of Rochester Medical Center
    Rochester, New York 14642, United States
07

Registry details

Key details

Study ID
NCT04644549
Lead sponsor
Emily de los Reyes
Responsible party
Emily de los Reyes (Sponsor-Investigator, Nationwide Children's Hospital) — Sponsor-investigator
First posted
Nov 25, 2020
Start date
Apr 27, 2021
Primary completion
Mar 11, 2022
Completion
Mar 11, 2022
Last update
Jul 30, 2025

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
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