Investigations of Juvenile Neuronal Ceroid Lipofuscinosis
| Status: | Recruiting |
|---|---|
| Conditions: | Neurology |
| Therapuetic Areas: | Neurology |
| Healthy: | No |
| Age Range: | Any - 100 |
| Updated: | 4/5/2019 |
| Start Date: | November 27, 2017 |
| End Date: | December 31, 2030 |
| Contact: | An N Dang Do, M.D. |
| Email: | an.dangdo@nih.gov |
| Phone: | (301) 496-8849 |
Investigations of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)
Background:
CLN3, or Batten disease, is a genetic disorder. This deadly disease leads to decline of brain
and nervous system functions. Symptoms of CLN3 typically occur between 4 and 7 years of age.
They include changes in how a person sees, thinks, and moves. CLN3 can also cause seizures.
No effective treatments for the disease are yet known. There is limited testing of potential
therapies. Researchers want to study CLN3 more so they can improve future therapies.
Objective:
To identify clinical or biochemical markers that can be used as therapeutic outcome measures
for CLN3.
Eligibility:
People with CLN3. It must be based on
Two CLN3 mutations OR
One CLN3 mutation AND findings seen with a powerful microscope
Family members of a person with CLN3.
Design:
Participants will have already been referred to NIH for CLN3 evaluation.
If participants agree to do the study, they will:
1. give spinal fluid, blood, urine, and skin samples. They may provide other samples if
they were already collected. These may include cells, surgical specimens, and DNA.
2. will be seen by multiple healthcare specialists.
Participants may provide medical records or photos. Participants will sign a release of
medical records form.P
Researchers may send samples or clinical data to other investigators. For research testing,
the samples will not include the participant s name. For a test in a clinical lab,
researchers will include the participant s name. These results will become part of the
clinical record at NIH.
CLN3, or Batten disease, is a genetic disorder. This deadly disease leads to decline of brain
and nervous system functions. Symptoms of CLN3 typically occur between 4 and 7 years of age.
They include changes in how a person sees, thinks, and moves. CLN3 can also cause seizures.
No effective treatments for the disease are yet known. There is limited testing of potential
therapies. Researchers want to study CLN3 more so they can improve future therapies.
Objective:
To identify clinical or biochemical markers that can be used as therapeutic outcome measures
for CLN3.
Eligibility:
People with CLN3. It must be based on
Two CLN3 mutations OR
One CLN3 mutation AND findings seen with a powerful microscope
Family members of a person with CLN3.
Design:
Participants will have already been referred to NIH for CLN3 evaluation.
If participants agree to do the study, they will:
1. give spinal fluid, blood, urine, and skin samples. They may provide other samples if
they were already collected. These may include cells, surgical specimens, and DNA.
2. will be seen by multiple healthcare specialists.
Participants may provide medical records or photos. Participants will sign a release of
medical records form.P
Researchers may send samples or clinical data to other investigators. For research testing,
the samples will not include the participant s name. For a test in a clinical lab,
researchers will include the participant s name. These results will become part of the
clinical record at NIH.
Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease, CLN3) is a recessive, fatal,
lysosomal storage disease that results in progressive neurodegeneration. In aggregate, the 13
disorders of neuronal ceroid lipofuscinosis are considered the most common neurodegenerative
disorders in children with incidence estimates ranging from 1/12,500 to 1/100,000 in European
and USA populations. Neurological symptoms of CLN3 typically manifest between 4 and 7 years
of age. The initial clinical presentation is progressive vision loss and cognitive
impairment, followed by insidious progression of motor dysfunction and onset of seizures.
Affected individuals generally succumb to the disease in young adulthood. There is no
effective treatment for CLN3. A major impediment to the testing of potential therapeutic
interventions is the lack of well-defined outcome measures. The purpose of this protocol is
to obtain both baseline and rate of progression data on clinical and biochemical markers that
may later be used as an outcome measure in a clinical trial, and to establish a biorepository
of samples from CLN3 participants.
lysosomal storage disease that results in progressive neurodegeneration. In aggregate, the 13
disorders of neuronal ceroid lipofuscinosis are considered the most common neurodegenerative
disorders in children with incidence estimates ranging from 1/12,500 to 1/100,000 in European
and USA populations. Neurological symptoms of CLN3 typically manifest between 4 and 7 years
of age. The initial clinical presentation is progressive vision loss and cognitive
impairment, followed by insidious progression of motor dysfunction and onset of seizures.
Affected individuals generally succumb to the disease in young adulthood. There is no
effective treatment for CLN3. A major impediment to the testing of potential therapeutic
interventions is the lack of well-defined outcome measures. The purpose of this protocol is
to obtain both baseline and rate of progression data on clinical and biochemical markers that
may later be used as an outcome measure in a clinical trial, and to establish a biorepository
of samples from CLN3 participants.
- INCLUSION CRITERIA:
Main Study:
Individuals with a diagnosis of CLN3
-Diagnosis of CLN3 determined by one of the following:
- a. Two CLN3 mutations
- b. One CLN3 mutation AND
- clinical presentation suggestive of CLN3, OR
- characteristic electron microscopy (EM) findings (such as curvilinear body,
fingerprint profile, granular osmiophilic deposits)
Sub-Study:
Individuals with a diagnosis of CLN3
-Diagnosis of CLN3 determined by one of the following:
- a. Two CLN3 mutations
- b. One CLN3 mutation AND
- clinical presentation suggestive of CLN3, OR
- characteristic electron microscopy (EM) findings (such as curvilinear body,
fingerprint profile, granular osmiophilic deposits)
OR
Individuals who have family member(s) diagnosed with CLN3
EXCLUSION CRITERIA:
Main Study:
- Individuals who cannot travel to the NIH because of their medical condition.
- Individuals who, in the opinion of the Investigator, are unable to comply with the
protocol or have medical conditions that would potentially increase the risk of
participation.
Sub-Study:
-Individuals who, in the opinion of the Investigator, are unable to comply with the
protocol or have medical conditions that would potentially increase the risk of
participation.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
301-496-2563
Phone: 800-411-1222
National Institutes of Health Clinical Center The National Institutes of Health (NIH) Clinical Center in...
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