Ignite Creation Date:
2024-05-05 @ 4:54 PM
Last Modification Date:
2024-10-26 @ 9:25 AM
Study NCT ID:
NCT00344331
Status:
RECRUITING
Last Update Posted:
2024-07-01
First Post:
2006-06-23
Brief Title:
Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease Type C
Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease Type C
Status:
RECRUITING
Status Verified Date:
2024-10-10
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
This study will evaluate clinical and laboratory tests that might be useful in determining if an investigational drug can slow the progression of Niemann-Pick Disease Type C NPC a genetic disorder that results in progressive loss of nervous system function The study will 1 look for a clinical or biochemical marker that can be used as a measure of response to treatment and 2 define the rate of progression of biochemical marker abnormalities in a group of NPC patients who will later be invited to enroll in a treatment trial
Patients of any age with NPC may be eligible for this study Participants undergo the following procedures every 6 months during 4- to 5-day admissions at the NIH Clinical Center
Medical evaluation including medical history physical exam neurological exam neuropsychometric evaluation and blood and urine tests
Lumbar puncture spinal tap A sample of cerebrospinal fluid CSF the fluid that bathes the brain and spinal cord is obtained for study After administration of a local anesthetic a small needle is inserted in the space between the bones in the lower back where the CSF circulates below the spinal cord A small amount of fluid is collected through the needle
Eye exam and eye movement study The pupils of the eye are dilated to examine the structures of the eyes For the eye movement study a special contact lens is placed on the eye and the patient looks at a series of target light spots moving on a screen
Hearing tests
Electroretinography in patients who can cooperate with the test to measure the function of the retina Before the test the patients pupils are dilated and an electrode small silver disk is taped to the forehead The patient sits in a dark room for 30 minutes and then a special contact lens is placed on one eye after it has been numbed with drops The contact lens senses small electrical signals generated by the retina when lights flash During the ERG recording the eye is stimulated with flashes of light projected inside a hollow sphere After the test a full eye exam is done and photographs of the retina are taken
Magnetic resonance imaging MRI This test uses a magnetic field and radio waves to produce images of the brain and obtain information about brain chemicals The patient lies on a table that can slide in and out of the scanner a narrow cylinder wearing earplugs to muffle loud knocking and thumping sounds that occur during the scanning process Patients who cannot remain still in the scanner may be sedated for the test
Psychometric testing Patients complete questionnaires
Photographs of the patient may be taken for use in teaching sessions or scientific presentations or publications with the patients consent Patients may be recognizable but are not identified by name
Pregnancy test in all female patients over 10 years of age at the beginning of each admission to the Clinical Center
Patients of any age with NPC may be eligible for this study Participants undergo the following procedures every 6 months during 4- to 5-day admissions at the NIH Clinical Center
Medical evaluation including medical history physical exam neurological exam neuropsychometric evaluation and blood and urine tests
Lumbar puncture spinal tap A sample of cerebrospinal fluid CSF the fluid that bathes the brain and spinal cord is obtained for study After administration of a local anesthetic a small needle is inserted in the space between the bones in the lower back where the CSF circulates below the spinal cord A small amount of fluid is collected through the needle
Eye exam and eye movement study The pupils of the eye are dilated to examine the structures of the eyes For the eye movement study a special contact lens is placed on the eye and the patient looks at a series of target light spots moving on a screen
Hearing tests
Electroretinography in patients who can cooperate with the test to measure the function of the retina Before the test the patients pupils are dilated and an electrode small silver disk is taped to the forehead The patient sits in a dark room for 30 minutes and then a special contact lens is placed on one eye after it has been numbed with drops The contact lens senses small electrical signals generated by the retina when lights flash During the ERG recording the eye is stimulated with flashes of light projected inside a hollow sphere After the test a full eye exam is done and photographs of the retina are taken
Magnetic resonance imaging MRI This test uses a magnetic field and radio waves to produce images of the brain and obtain information about brain chemicals The patient lies on a table that can slide in and out of the scanner a narrow cylinder wearing earplugs to muffle loud knocking and thumping sounds that occur during the scanning process Patients who cannot remain still in the scanner may be sedated for the test
Psychometric testing Patients complete questionnaires
Photographs of the patient may be taken for use in teaching sessions or scientific presentations or publications with the patients consent Patients may be recognizable but are not identified by name
Pregnancy test in all female patients over 10 years of age at the beginning of each admission to the Clinical Center
Detailed Description:
Niemann-Pick type C disease NPC is an autosomal recessive lysosomal storage disorder characterized by accumulation of cholesterol and gangliosides NPC is a rare estimated prevalence of 1120000-150000 neurodegenerative disorder with a wide clinical spectrum and a variable age of onset Classically children with NPC demonstrate neurological dysfunction with cerebellar ataxia dysarthria seizures vertical gaze palsy motor impairment dysphagia psychotic episodes and progressive dementia In general adolescent and adult onset forms have a more insidious onset and slower progression
There is no effective treatment for NPC and it is a lethal disorder A major impediment to the testing of 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
There is no effective treatment for NPC and it is a lethal disorder A major impediment to the testing of 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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 06-CH-0186 | None | None | None |