Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies
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|ClinicalTrials.gov Identifier: NCT00006176|
Recruitment Status : Completed
First Posted : August 14, 2000
Last Update Posted : July 2, 2017
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:
- Blood tests to assess general health
- Chest and skull X-rays
- Electrocardiogram (EKG)-record of the electrical activity of the heart using electrodes placed on the chest
- Electroencephalogram (EEG)-record of the electrical activity of the brain using electrodes placed on the head
- Ultrasound of the abdomen-imaging of abdominal organs using sound waves
- Brain magnetic resonance imaging (MRI)-imaging of the brain using a strong magnetic field and radio waves
- Hearing evaluation
- Assessment of performance of daily living activities
- 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 individual's condition) for 3 years.
|Condition or disease|
|Familial Dementia With Neuroserpin Inclusion Bodies Nervous System Heredodegenerative Disorder|
|Study Type :||Observational|
|Estimated Enrollment :||100 participants|
|Official Title:||Clinical, Molecular and Biochemical Characterization of Familial Encephalopathy With Neuroserpin Inclusion Bodies|
|Study Start Date :||August 10, 2000|
|Primary Completion Date :||August 4, 2009|
|Study Completion Date :||August 4, 2009|
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00006176
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|