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
