Ignite Creation Date:
2024-05-05 @ 10:00 AM
Last Modification Date:
2024-10-26 @ 9:05 AM
Study NCT ID:
NCT00006176
Status:
COMPLETED
Last Update Posted:
2017-07-02
First Post:
2000-08-12
Brief Title:
Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Clinical Molecular and Biochemical Characterization of Familial Encephalopathy With Neuroserpin Inclusion Bodies
Status:
COMPLETED
Status Verified Date:
2009-08-04
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:
The purpose of this study is to learn more about the medical problems and the genetic factors involved in a recently defined form of inherited dementia called familial dementia with neuroserpin inclusion bodies FDNIB Abnormal substances in nerve cells of patients with this disease affect brain and nervous system function causing confusion memory decline and impaired cognition thinking ability Patients also develop movement disorders and possibly seizures Symptoms begin in midlife between 45 and 55 years of age
Patients with FDNIB and family members 18 years of age or older at risk for the disease may be eligible for this 3-year study
Participants will have a medical and family history and review of medical records interview with a medical geneticist specialist in genetics physical neurological and psychiatric examinations and the following tests and procedures
1 Blood tests to assess general health
2 Chest and skull X-rays
3 Electrocardiogram EKG-record of the electrical activity of the heart using electrodes placed on the chest
4 Electroencephalogram EEG-record of the electrical activity of the brain using electrodes placed on the head
5 Ultrasound of the abdomen-imaging of abdominal organs using sound waves
6 Brain magnetic resonance imaging MRI-imaging of the brain using a strong magnetic field and radio waves
7 Hearing evaluation
8 Assessment of performance of daily living activities
9 Single photon emission computed tomography SPECT-imaging of brain metabolism and blood flow using a radioactive substance injected into a vein
The evaluation will be done over a 3- to 4-day period At their completion participants will meet with a physician and a genetics counselor to discuss the clinically significant findings Participants may be asked to return for follow-up evaluations every 6 months to a year depending on the individuals condition for 3 years
Patients with FDNIB and family members 18 years of age or older at risk for the disease may be eligible for this 3-year study
Participants will have a medical and family history and review of medical records interview with a medical geneticist specialist in genetics physical neurological and psychiatric examinations and the following tests and procedures
1 Blood tests to assess general health
2 Chest and skull X-rays
3 Electrocardiogram EKG-record of the electrical activity of the heart using electrodes placed on the chest
4 Electroencephalogram EEG-record of the electrical activity of the brain using electrodes placed on the head
5 Ultrasound of the abdomen-imaging of abdominal organs using sound waves
6 Brain magnetic resonance imaging MRI-imaging of the brain using a strong magnetic field and radio waves
7 Hearing evaluation
8 Assessment of performance of daily living activities
9 Single photon emission computed tomography SPECT-imaging of brain metabolism and blood flow using a radioactive substance injected into a vein
The evaluation will be done over a 3- to 4-day period At their completion participants will meet with a physician and a genetics counselor to discuss the clinically significant findings Participants may be asked to return for follow-up evaluations every 6 months to a year depending on the individuals condition for 3 years
Detailed Description:
This project involves the study of a novel familial neurodegenerative disorder familial encephalopathy with neuroserpin inclusion bodies FENIB This disorder which has a characteristic clinical course of progressive dementia and neurologic involvement was initially defined in one extended family Neuroserpin is the gene for this disorder and a mutation is present in this large kindred and four additional familiescases This protocol will characterize the clinical phenotype delineate the natural history of the disorder and explore genotypephenotype correlations in the index family and possibly in other reported cases Families with immunohistopathologically-neuroserpin positive neuronal inclusions on autopsybiopsy in an affected members neuroserpin mutation-positive proband or with familial presenile dementia with neurologic features consistent with the original FENIB family will be enrolled
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
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 |
|---|---|---|---|
| 00-HG-0191 | None | None | None |