Batten DiseaseBatten'sCLN6NCT03285425
Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae
An observational study of Batten Disease and CLN6, run by Emily de los Reyes at 1 site in United States.
Trial summary
CLN6 is a rare, neurodegenerative disease that causes progressive loss of acquired skills with motor delay, visual loss, seizures and ataxia. The investigators propose a natural history study of this rare disorder since it is currently unknown. Read more about this study
- Who is it for?
- Ages 2 to 25 years
- Conditions the study is for
- Batten Disease, CLN6
- What is being tested?
- Natural history
- How many people
- 30 participants
- Where
- 1 siteUnited States
- Study dates
- Jan 2017to Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 25 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Study population will consist of children or adolescents (minors).
Who may be able to join
- Confirmed diagnosis of genotypic diagnosis of CLN6
Who cannot join
- Patients who do not have a genotypic diagnosis of CLN6
Trial locations and contacts
1 site in 1 country.
United States1 site
Nationwide Children's Hospital
Columbus, Ohio, 43205
About this study
Official title: Natural History Study of Batten's CLN6 Disease
CLN6 is a rare, neurodegenerative disease that causes progressive loss of acquired skills with motor delay, visual loss, seizures and ataxia. The investigators propose a natural history study of this rare disorder since it is currently unknown. It is important to understand disease progression in CLN6 disease to be able to judge therapeutic efficacy as emerging therapies like gene therapy become available.
Read the detailed description
Neuronal Ceroid Lipofuscinosis (NCL) is the most common childhood neurodegenerative disorder characterized by accumulation of autofluorescent waxy lipopigments in the brain and other tissues. The symptoms manifest as blindness, seizures, ataxia, myoclonus and loss of milestones or dementia. This group of disorders caused by an intracellular accumulation of lipopigment (ceroid lipofuscin) material leads to neuronal death and is the most prevalent class of childhood neurodegenerative disease.
There are 14 types of NCL with 13 genotypes. Most of these are autosomal recessive. Neuronal ceroid lipofuscinosis, type 6 usually present like a late infantile NCL (CLN2) but can also present at as a juvenile onset (Mole). The natural history is not well established and the presentation maybe variable. There are currently no published data on the disease progression of children with CLN6 disease
CLN6 is a rare, neurodegenerative disease that causes progressive loss of acquired skills with motor delay, visual loss, seizures and ataxia. The investigators propose a natural history study of this rare disorder since it is currently unknown. Although there are descriptions of the clinical spectrum, the natural history has not been well described. It is important to understand disease progression in CLN6 disease to be able to judge therapeutic efficacy for as emerging therapies like gene therapy become available. The investigators will identify children with a genotypic diagnosis of CLN6 who are consulting Nationwide Children's hospital. The investigators will also recruit patients through family conferences of Batten's disease Support and Research association. The investigators propose a retro prospective chart review and longitudinal phone follow-up of with diagnosis of CLN6 to understand the onset and progression of this disease.
CLN6 is a rare, neurodegenerative disease that causes progressive loss of acquired skills with motor delay, visual loss, seizures and ataxia. The investigators propose a natural history study of this rare disorder since it is currently unknown. Although there are descriptions of the clinical spectrum, the natural history has not been well described. It is important to understand disease progression in CLN6 disease to be able to judge therapeutic efficacy for as emerging therapies like gene therapy become available. The investigators will identify children with a genotypic diagnosis of CLN6 who are consulting Nationwide Children's hospital. Patients will also be recruited through family conferences of Batten's disease Support and Research association.
OBJECTIVES:
The primary objectives of this study include the following:
- Assess the natural history of CLN6 by performing a prospective, longitudinal chart review and phone follow-up of patients who have a diagnosis of Batten's disease, with a specific genotype of CLN6.
- To promote better understanding of this disease to compare therapeutic efficacy with emerging therapies
- Conditions
- Batten Disease, CLN6
- Being tested
- Natural history
- Keywords
- Batten's disease, Neuronal Ceroid Lipofuscinosis
- Medical subject headings
- Neuronal Ceroid-Lipofuscinoses
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Natural historyOther
Parent interview
What is being measured
The primary outcome is the main question the study is designed to answer.
Natural history of disease progression
The investigators will assess historical data for the onset of seizures, blindness, dementia, and loss of motor skills; and will request any available MRIs and EEGs.
Measured: Three years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Sep 2017
- Study startJan 2017
- Primary completionDec 2026 (estimated)
- Study completionDec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Batten DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Emily de los Reyes
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Emily de los Reyes, Nationwide Children's Hospital
- Investigators
- Emily de los Reyes, MD, Principal investigator, Abigail Wexner Research Institute, Nationwide Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03285425
- Sponsor's protocol ID
- IRB16-00554
- Acronym
- Batten'sCLN6
- Status last verified
- Jul 2025
- First submitted
- 19 Jan 2017
- Last updated
- 30 Jul 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Schulz A, Kohlschutter A, Mink J, Simonati A, Williams R. NCL diseases - clinical perspectives. Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. doi: 10.1016/j.bbadis.2013.04.008. Epub 2013 Apr 17.
PubMed 23602993Canafoglia L, Gilioli I, Invernizzi F, Sofia V, Fugnanesi V, Morbin M, Chiapparini L, Granata T, Binelli S, Scaioli V, Garavaglia B, Nardocci N, Berkovic SF, Franceschetti S. Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations. Neurology. 2015 Jul 28;85(4):316-24. doi: 10.1212/WNL.0000000000001784. Epub 2015 Jun 26.
PubMed 26115733Sharp JD, Wheeler RB, Parker KA, Gardiner RM, Williams RE, Mole SE. Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. Hum Mutat. 2003 Jul;22(1):35-42. doi: 10.1002/humu.10227.
PubMed 12815591Gao H, Boustany RM, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, Gillis T, Qin X, Liu S, Donahue LR, Bronson RT, Faust JR, Stout D, Haines JL, Lerner TJ, MacDonald ME. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am J Hum Genet. 2002 Feb;70(2):324-35. doi: 10.1086/338190. Epub 2001 Dec 21.
PubMed 11791207
Study at a glance
From the registry record, last updated by the sponsor on 30 Jul 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History Study of Batten's CLN6 Disease
- ClinicalTrials.gov ID
- NCT03285425
- Acronym / sponsor ID
- Batten'sCLN6 / IRB16-00554
- Conditions
- Batten Disease, CLN6
- Keywords
- Batten's disease, Neuronal Ceroid Lipofuscinosis
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- Emily de los ReyesUniversity, hospital or other
- Study start
- Jan 2017 (actual)
- Primary completion
- Dec 2026 (estimated)
- Study completion
- Dec 2026 (estimated)
- First posted
- 18 Sep 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
CLN6 is a rare, neurodegenerative disease that causes progressive loss of acquired skills with motor delay, visual loss, seizures and ataxia. The investigators propose a natural history study of this rare disorder since it is currently unknown. It is important to understand disease progression in CLN6 disease to be able to judge therapeutic efficacy as emerging therapies like gene therapy become available.
Detailed description
Neuronal Ceroid Lipofuscinosis (NCL) is the most common childhood neurodegenerative disorder characterized by accumulation of autofluorescent waxy lipopigments in the brain and other tissues. The symptoms manifest as blindness, seizures, ataxia, myoclonus and loss of milestones or dementia. This group of disorders caused by an intracellular accumulation of lipopigment (ceroid lipofuscin) material leads to neuronal death and is the most prevalent class of childhood neurodegenerative disease.
There are 14 types of NCL with 13 genotypes. Most of these are autosomal recessive. Neuronal ceroid lipofuscinosis, type 6 usually present like a late infantile NCL (CLN2) but can also present at as a juvenile onset (Mole). The natural history is not well established and the presentation maybe variable. There are currently no published data on the disease progression of children with CLN6 disease
CLN6 is a rare, neurodegenerative disease that causes progressive loss of acquired skills with motor delay, visual loss, seizures and ataxia. The investigators propose a natural history study of this rare disorder since it is currently unknown. Although there are descriptions of the clinical spectrum, the natural history has not been well described. It is important to understand disease progression in CLN6 disease to be able to judge therapeutic efficacy for as emerging therapies like gene therapy become available. The investigators will identify children with a genotypic diagnosis of CLN6 who are consulting Nationwide Children's hospital. The investigators will also recruit patients through family conferences of Batten's disease Support and Research association. The investigators propose a retro prospective chart review and longitudinal phone follow-up of with diagnosis of CLN6 to understand the onset and progression of this disease.
CLN6 is a rare, neurodegenerative disease that causes progressive loss of acquired skills with motor delay, visual loss, seizures and ataxia. The investigators propose a natural history study of this rare disorder since it is currently unknown. Although there are descriptions of the clinical spectrum, the natural history has not been well described. It is important to understand disease progression in CLN6 disease to be able to judge therapeutic efficacy for as emerging therapies like gene therapy become available. The investigators will identify children with a genotypic diagnosis of CLN6 who are consulting Nationwide Children's hospital. Patients will also be recruited through family conferences of Batten's disease Support and Research association.
OBJECTIVES:
The primary objectives of this study include the following:
- Assess the natural history of CLN6 by performing a prospective, longitudinal chart review and phone follow-up of patients who have a diagnosis of Batten's disease, with a specific genotype of CLN6.
- To promote better understanding of this disease to compare therapeutic efficacy with emerging therapies
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Ages
- 2 to 25 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Study population will consist of children or adolescents (minors).
Key inclusion criteria (1 listed)
- Confirmed diagnosis of genotypic diagnosis of CLN6
Key exclusion criteria (1 listed)
- Patients who do not have a genotypic diagnosis of CLN6
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Natural historyParent interview | Other | – |
Primary outcome
Natural history of disease progression
Time frame: Three years
The investigators will assess historical data for the onset of seizures, blindness, dementia, and loss of motor skills; and will request any available MRIs and EEGs.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Jul 2025.
- Background: PubMed 23602993Schulz A, Kohlschutter A, Mink J, Simonati A, Williams R. NCL diseases - clinical perspectives. Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. doi: 10.1016/j.bbadis.2013.04.008. Epub 2013 Apr 17.
- Background: PubMed 26115733Canafoglia L, Gilioli I, Invernizzi F, Sofia V, Fugnanesi V, Morbin M, Chiapparini L, Granata T, Binelli S, Scaioli V, Garavaglia B, Nardocci N, Berkovic SF, Franceschetti S. Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations. Neurology. 2015 Jul 28;85(4):316-24. doi: 10.1212/WNL.0000000000001784. Epub 2015 Jun 26.
- Background: PubMed 12815591Sharp JD, Wheeler RB, Parker KA, Gardiner RM, Williams RE, Mole SE. Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. Hum Mutat. 2003 Jul;22(1):35-42. doi: 10.1002/humu.10227.
- Background: PubMed 11791207Gao H, Boustany RM, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, Gillis T, Qin X, Liu S, Donahue LR, Bronson RT, Faust JR, Stout D, Haines JL, Lerner TJ, MacDonald ME. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am J Hum Genet. 2002 Feb;70(2):324-35. doi: 10.1086/338190. Epub 2001 Dec 21.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Emily de los Reyes, MD principal investigator
Abigail Wexner Research Institute, Nationwide Children's Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Batten Disease and CLN6, run by Emily de los Reyes at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 30 Jul 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Natural history of disease progression (time frame: Three years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03285425, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Jul 2025.