- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00006176
Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies
Clinical, Molecular and Biochemical Characterization of Familial Encephalopathy With Neuroserpin Inclusion Bodies
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.
Study Overview
Status
Detailed Description
Study Type
Enrollment
Contacts and Locations
Study Locations
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Maryland
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Bethesda, Maryland, United States, 20892
- National Institutes of Health Clinical Center, 9000 Rockville Pike
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Description
- INCLUSION CRITERIA:
Patients with a family history of early-onset progressive dementia or decline in cognition and neuronal inclusion bodies which are immunohistopathologically consistent with neuroserpin inclusion bodies.
Children with progressive dementia and myoclonic epilepsy which is consistent with the reported clinical course in pediatric patients or children with the clinical phenotype who on autopsy demonstrate neuronal inclusion boidies which are immunohistopathologically consistent with neuroserpin inclusion bodies.
Family members at risk, of at least 18 years of age, including first degree relatives of affected patients and the adult offspring of these first degree relatives.
In rare instances probands and their at risk family members with known presenile dementia and a neurologic course typical of that seen in FENIB will be enrolled.
We may also enroll offsite individuals who have any of the above findings, but are too medically fragile to travel to the Clinical Center and for whom a durable power of attorney (DPA) is available. The physical examination and laboratory research studies will be performed by the Investigator(s) and all clinical studies will be done in a local accredited hospital.
Family members either not at risk and unaffected spouses may enroll primarily for genetic linkage information. These individuals will contribute a blood sample for molecular analysis only. Those unwilling to travel may also provide a blood sample only. No clinical studies will be performed on individuals from this category.
EXCLUSION CRITERIA:
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.
Study Plan
How is the study designed?
Collaborators and Investigators
Publications and helpful links
General Publications
- Davis RL, Shrimpton AE, Holohan PD, Bradshaw C, Feiglin D, Collins GH, Sonderegger P, Kinter J, Becker LM, Lacbawan F, Krasnewich D, Muenke M, Lawrence DA, Yerby MS, Shaw CM, Gooptu B, Elliott PR, Finch JT, Carrell RW, Lomas DA. Familial dementia caused by polymerization of mutant neuroserpin. Nature. 1999 Sep 23;401(6751):376-9. doi: 10.1038/43894.
- Davis RL, Shrimpton AE, Carrell RW, Lomas DA, Gerhard L, Baumann B, Lawrence DA, Yepes M, Kim TS, Ghetti B, Piccardo P, Takao M, Lacbawan F, Muenke M, Sifers RN, Bradshaw CB, Kent PF, Collins GH, Larocca D, Holohan PD. Association between conformational mutations in neuroserpin and onset and severity of dementia. Lancet. 2002 Jun 29;359(9325):2242-7. doi: 10.1016/S0140-6736(02)09293-0. Erratum In: Lancet 2002 Oct 5;360(9339):1102.
- Davis RL, Holohan PD, Shrimpton AE, Tatum AH, Daucher J, Collins GH, Todd R, Bradshaw C, Kent P, Feiglin D, Rosenbaum A, Yerby MS, Shaw CM, Lacbawan F, Lawrence DA. Familial encephalopathy with neuroserpin inclusion bodies. Am J Pathol. 1999 Dec;155(6):1901-13. doi: 10.1016/S0002-9440(10)65510-1.
Study record dates
Study Major Dates
Study Start
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- 000191
- 00-HG-0191
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Familial Dementia With Neuroserpin Inclusion Bodies
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State University of New York - Upstate Medical...TerminatedFamilial Encephalopathy With Neuroserpin Inclusion Bodies | X-linked Mental Retardation | Congenital Vertical Talus | Idiopathic Generalised Epilepsy | Familial DementiaUnited States
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EIP Pharma IncWorldwide Clinical TrialsCompletedDementia With Lewy Bodies (DLB)United States, Netherlands
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Osaka UniversityCompletedDementia With Lewy Bodies (DLB)Japan
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Eisai Co., Ltd.CompletedDementia With Lewy Bodies (DLB)Japan
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Eisai Co., Ltd.CompletedDementia With Lewy Bodies (DLB)
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Eisai Co., Ltd.CompletedDementia With Lewy Bodies (DLB)Japan
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University Hospital, Strasbourg, FranceRecruitingDementia With Lewy Bodies Diagnosis | Significant Cognitive Fluctuations in DLBFrance
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Eisai Inc.CompletedDementias With Lewy BodiesUnited States
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CND Life SciencesNational Institute on Aging (NIA)RecruitingMCI-AD, Early Stage Alzheimer's Disease | MCI-DLB, Early Stage Dementia With Lewy BodiesUnited States
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Eisai Co., Ltd.Completed