Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies
Completed
Conditions studied: Familial Dementia With Neuroserpin Inclusion Bodies, Nervous System Heredodegenerative Disorder
In brief
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 individual's condition) for 3 years.
Key facts
- Study ID
- NCT00006176
- Run by
- National Human Genome Research Institute (NHGRI)
- People needed
- 100
- Starts
- 2000-08-10
- Expected to finish
- 2009-08-04
- Last updated by the study team
- 2017-07-02
Who can join
Age: 10 and older. Sex: any. Healthy volunteers: not accepted.
You may not qualify if…
- Another diagnosis of presenile demential is made by a physician including but not limited to: 1) Huntington Disease, 2) Parkinson Disease/Diffuse Lewy Body Disease, 3) Familial Alzheimer Disease with known mutations in presenilin 1, presenilin 2 or beta-amyloid precursor protein, 4) Lafora Body Disease, 5) Pick's Disease, and 6) fronto-temporal dementia.
- A Durable Power of Attorney is not available in a human subject that is not medically competent to give consent.
Where it is running
- National Institutes of Health Clinical Center, 9000 Rockville Pike — Bethesda, Maryland, United States
Full record on ClinicalTrials.gov
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