Fatal Familial Insomnia

Common Name(s)

Fatal familial insomnia (FFI) is an inherited prion disease that affects the brain and other parts of the nervous system. Prion diseases, also known as transmissible spongiform encephalopathies (TSE), are a group of rare neurodegenerative conditions that occur when abnormal proteins clump together and accumulate in the brain, leading to tissue damage. The first symptoms of FFI usually begin in mid-life and may include insomnia that worsens over time and vivid dreams when sleep is achieved. These symptoms may be followed by high blood pressure; episodes of hyperventilation; excessive tearing; and/or sexual and urinary tract dysfunction. As the disease progresses, most affected people develop ataxia. FFI usually leads to death within a few months to a few years. Genetic prion diseases are inherited in an autosomal dominant manner and may be caused by mutations in the PRNP gene. Treatment aims at alleviating symptoms when possible.

Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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Following organizations serve the condition "Fatal Familial Insomnia" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fatal Familial Insomnia" returned 18 free, full-text research articles on human participants. First 3 results:

Clinical, histopathological and genetic studies in a case of fatal familial insomnia with review of the literature.

Author(s): Bin Peng, Shenqi Zhang, Hongjuan Dong, Zuneng Lu

Journal:

To explore clinical, histopathological and genetic features of a case with fatal familial insomnia (FFI) and review the related literatures. A middle-aged woman who complained of "insomnia for 9 months and psychosis for 3 months" was suspicious of FFI. The clinical features of the ...

Last Updated: 30 Nov 2015

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Familial fatal insomnia with atypical clinical features in a patient with D178N mutation and homozygosity for Met at codon 129 of the prion protein gene.

Author(s): Lin Sun, Xia Li, Xiang Lin, Feng Yan, Kathryn Chen, Shifu Xiao

Journal: Prion. 2015 ;9(3):228-35.

Familial fatal insomnia (FFI) is fatal disorder characterized by damage to select thalamic nuclei, together with progressive insomnia and dysautonomia. In subjects carrying the D178N prion protein (PRNP) mutation, distinct phenotypes can be observed, depending on the methionine (Met) ...

Last Updated: 26 Jun 2015

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Preventive study in subjects at risk of fatal familial insomnia: Innovative approach to rare diseases.

Author(s): Gianluigi Forloni, Mauro Tettamanti, Ugo Lucca, Yasmin Albanese, Elena Quaglio, Roberto Chiesa, Alessandra Erbetta, Flavio Villani, Veronica Redaelli, Fabrizio Tagliavini, Vladimiro Artuso, Ignazio Roiter

Journal: Prion. 2015 ;9(2):75-9.

The text describes a preventive clinical trial with drug treatment in a very rare neurodegenerative disease (Fatal familial Insomnia, FFI) designed with the help of individuals at genetic risk of developing the disease, asymptomatic carriers, who have agreed to be exposed over a 10-year ...

Last Updated: 22 May 2015

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PubMed Article Results at NCBI: 18 article(s)

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fatal Familial Insomnia" returned 1 free, full-text review articles on human participants. First 3 results:

Self management of fatal familial insomnia. Part 1: what is FFI?

Author(s): Joyce Schenkein, Pasquale Montagna

Journal:

Fatal familial insomnia (FFI) is a genetically transmitted neurodegenerative prion disease that incurs great suffering and has neither a treatment nor a cure. The clinical literature is devoid of management plans (other than palliative). Part 1 of this article reviews the sparse literature ...

Last Updated: 4 Apr 2007

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PubMed Review Results at NCBI: 1 review(s)

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Symptoms, Diagnosis, and Treatment

This information is provided by Genetics Home Reference.

Full Results at Genetics Home Reference: 2378 matches

This information is provided by GeneReviews.

http://www.ncbi.nlm.nih.gov/books/NBK1229

This information is provided by Genetic Testing Registry.

http://www.ncbi.nlm.nih.gov/gtr/conditions/C0206042

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Genetic Characterization of Movement Disorders and Dementias

Status: Recruiting

Condition Summary: Ataxia; Dystonia; Parkinson's Disease; Amyotrophic Lateral Sclerosis; Corticobasal Degeneration; Multiple System Atrophy; Alzheimer's Disease; Lewy Body Dementia; Parkinson Disease-Dementia; Dentatorubral-pallidoluysian Atrophy; Creutzfeldt-Jakob Disease and Fatal Familial Insomnia; Fragile X-associated Tremor/Ataxia Syndrome; Krabbe's Disease; Niemann-Pick Disease, Type C; Neuronal Ceroid Lipofuscinosis

Last Updated: 30 Jun 2017

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According to ClinicalTrials.gov there are currently 0 additional "open" studies for "Fatal Familial Insomnia" (open studies are recruiting volunteers) and 4 "Fatal Familial Insomnia" studies with "all" status. Visit ClinicalTrials.gov now to view them. Or alternatively, consider TrialsFinder for assistance:

Relief is when you and the right researcher find each other
Finding the right clinical trial for Fatal Familial Insomnia can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.

Learn More