Protocol Number: 01-CH-0086

Title:

Pilot Study of Cystagon as a Potential Therapy for Infantile Neuronal Ceroid Lipofuscinosis

Number:

01-CH-0086

Summary:

This study will examine the effectiveness of a drug called Cystagon in treating infantile neuronal ceroid lipofuscinosis (INCL), a progressive neurological disease affecting children. At around 11 to 13 months of age, patients develop slowed head growth, mild brain atrophy (wasting), electroencephalographic (EEG) changes and retinal deterioration, with symptoms worsening over time. The disease results from an enzyme deficiency that causes fatty compounds called ceroid to accumulate in cells. In laboratory experiments, Cystagon has helped remove ceroid from cells of patients with INCL.

Children with INCL between 6 months and 3 years of age may be eligible for this study. Participants take Cystagon daily by mouth every 6 hours. They are admitted to the NIH Clinical Center for a 4- to 5-day period every 6 months for the following tests and evaluations:

-Review of medical history, including a detailed record of seizures, physical examination, blood tests and clinical photographs. For the initial baseline studies, examinations may also be scheduled with pediatric neurology, ophthalmology and anesthesia services.

-Magnetic resonance imaging (MRI) of the brain - MRI uses a powerful magnet, radio waves, and computers to provide detailed images of the brain without the use of X-rays. The patient lies on a table that slides inside a donut-shaped machine containing a magnetic field. The child requires general anesthesia for the procedure.

-Electroretinogram (ERG) - measures the function of the retina, the light-sensitive tissue in the back of the eye. To record the flash ERG, a special contact lens is placed on the eye's surface and the eye is stimulated with flashes of light. Infants and very young children require general anesthesia for the procedure.

-Visual evoked potential (VEP) - measures the function of the visual pathway from the eye to the brain. To record the VEP, five electrodes are placed on the scalp and the eye is stimulated with flashes of light. Infants and very young children must be anesthetized for the procedure.

-Electroencephalogram (EEG) - measures brain electrical activity, using electrodes placed on the scalp. The test is useful in defining seizures. The child may need to be sedated to keep still during the test.

-Skin biopsy - A small piece of skin is removed (usually from the upper arm or shoulder) under local anesthetic to grow cells in the laboratory. This procedure is done at the start of the study and is repeated after 1 year if therapy results are promising.

Children's condition may improve, stabilize or worsen during this study. Life may be prolonged without significant improvement in quality. The information gained from the study may help scientists develop more potent drugs to treat INCL.

Sponsoring Institute:

National Institute of Child Health and Human Development (NICHD)

Recruitment Detail

Type: Active Accrual Of New Subjects

Gender: Male & Female

Referral Letter Required: Yes

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

Only patients between 6 months and 3 years of age will be admitted in this study.

Patients should not require extensive medical or nursing care during their stay at the Clinical Center.

Patients who have a genetic diagnosis and carry any combination of two of the following specific PPT mutations: L10X, R151X, R164X, W296X, R122W, c.169insA and E184K.

Both male and females patients are eligible for enrollment in this study.

EXCLUSION CRITERIA:

Patients with intractable seizures that cannot be controlled by two or fewer antiepileptic medications will not be accepted for this study.

Patients with severe neurological damage, i.e. have no mobility and/or cannot take nourishment orally will not be enrolled in this study even if the 6 months to 3 year age criterion is met.

Special Instructions: Currently Not Provided

Keywords:

Palmitoyl-Protein Thioesterase

Lysosomes

Batten Disease

Encephalopathy

Neurodegeneration

CLN 1

Recruitment Keywords:

Infantile Neuronal Ceroid Lipofuscinosis

Cystagon

Conditions:

Infantile Neronal Ceroid Lipofuscinosis

Investigational Drug(s):

None

Investigational Device(s):

None

Contacts:

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citations:

Neuronal ceroid-lipofuscinoses in childhood

Batten disease: past, present, and future

Cytoplasmic inclusions in the vermiform appendix and skeletal muscle in two types of so-called neuronal ceroid-lipofuscinosis

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department of Networks and Applications, CC.

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