An observational study in Batten Disease and CLN6, sponsored by Emily de los Reyes. Active, not recruiting at 1 site in United States. Open to participants aged 2 Years to 25 Years. Per ClinicalTrials.gov, last updated 2025-07-30.
Sponsored by Emily de los Reyes · Observational
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Among 38 studies in Neuronal Ceroid-Lipofuscinoses with a site in United States — 10 open to participants now, 18 under way, none of them phase 3. Neuronal Ceroid-Lipofuscinoses · United States.
Among the 38 studies in Neuronal Ceroid-Lipofuscinoses with a site in United States, this one is the 14th largest by planned enrollment of the 18 observational ones that give a count, is one of 2 that started in 2017, is one of 18 observational ones, reaches primary completion later than 2 of the 17 other live ones, and was the 22nd registered.
49 studies on the registry are indexed under Neuronal Ceroid-Lipofuscinoses; 13 are open to participants now.
Browse Neuronal Ceroid-Lipofuscinoses studies →10 of the 38 studies in Neuronal Ceroid-Lipofuscinoses with a site in United States are open now. Recruiting first, the newest first:
New York Stem Cell Foundation Research Institute · Sites in United States
Ages 30 days+
National Human Genome Research Institute (NHGRI) · Sites in United States
Ages 18–100 · Healthy volunteers
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Sites in United States
Ages 1 wk–100 yrs
Joanne Kurtzberg, MD · Sites in United States
Ages 1 wk–22 yrs
Foundation Fighting Blindness · Sites in United States
Healthy volunteers
A study can be open while its sites in United States have not opened yet or have stopped. Only those recruiting at a site in United States →
Of the 11 Neuronal Ceroid-Lipofuscinoses studies recruiting now, 7 (64%) set no upper age limit and 2 (18%) stop at 75 or younger; 10 take children under 18; 2 take healthy volunteers.
This study: 2 Years to 25 Years · all sexes · no healthy volunteers.
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38 studies; the count open now beside each. This study's row is marked.
A study in two phases is counted once above. Listed by phase, each with its combined phases: Phase 1 16 · Phase 2 12 · Phase 3 1 · Phase 4 1
First in 1995; this study’s year is marked. 2 started in 2017.
By drug class, each counting the studies that test any of its medicines:
This study's planned enrollment of 30 is below the median of 57 across 23 observational studies indexed under Neuronal Ceroid-Lipofuscinoses.
Median enrollment 11 across the 20 interventional studies, 65 across the 18 observational. Of the 19 that completed or were terminated, 8 (42%) have results posted.
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9 of 38 have an industry lead sponsor. The 10 most frequent:
Emily de los Reyes is the lead sponsor of 5 studies on the registry; 1 is open to participants now.
Emily de los Reyes has 4 studies filed under Neuronal Ceroid-Lipofuscinoses — fewer than ten, so there is no comparison to draw.
5 of the studies in Neuronal Ceroid-Lipofuscinoses with a site in United States that are under way reach primary completion within a year, 0 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT04098211Children's Hospital of Orange CountyLongitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients | 2026-12 |
| NCT04273243Emily de los ReyesLong-Term Follow Up of CLN6 Batten Disease Subjects Following Gene Transfer | 2026-12 |
| NCT03285425Emily de los ReyesNatural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae | 2026-12 |
| NCT07582484The Charlotte and Gwenyth Gray FoundationGene Therapy Trial for CLN6 Batten Disease | 2027-08 |
| NCT02254863Joanne Kurtzberg, MDUCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells | 2027-10 |
Add all 5 to your calendar (.ics) → With an account.
Among the 38 studies in Neuronal Ceroid-Lipofuscinoses with a site in United States, from their registry updates:
Nothing recorded among them since 2026-09-25.
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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.
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:
Study population will consist of children or adolescents (minors).
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Exclusion Criteria:
Parent interview
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.
Time frame: Three years
Plan to share: Undecided
Started Jan 2017 (actual). Primary completion is estimated for Dec 2026, 119 months after the start.
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This study is active, not recruiting, as verified in Jul 2025. You cannot join it, but the record below documents what was studied.
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Neuronal Ceroid-Lipofuscinoses →
Emily de los Reyes