Fabry Disease
Common Name(s)
Fabry Disease, Anderson-Fabry Disease, Ceramide Trihexosidosis
Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Fabry Disease" for support, advocacy or research.
Our mission is to ensure that everyone in the world with a rare disease has a safe place to go and connect with others like them.
To undertake public and private education and awareness, dissemination and publication of information about Fabry disease; initiate, encourage and support research and investigation into its causes and treatment, and to provide funds in respect thereof; to promote better understanding, management and treatment; and to arrange for, coordinate and increase the facilities available for diagnosis, consultation and treatment of those suffering from Fabry disease.
FINs vision is of a world where every person affected by Fabry disease has the best quality of life possible through early diagnosis, treatment and cure. The primary aim of the FIN is to facilitate collaboration between organizations to support those affected by Fabry disease. It seeks to do this primarily through enabling communication, promoting best practice and acting as an independent forum for Fabry patients around the world.
It is the mission of the Fabry Support & Information Group to provide the Fabry community and the general public with information, advocacy, education and compassionate support to improve the quality of life and the quality of care for Fabry patients and family members.
The mission of the National Fabry Disease Foundation is to help ensure that all individuals with Fabry disease are identified, diagnosed and treated in time to avoid a diminished quality of life or life threatening consequences, to provide assistance to individuals with Fabry disease and their families, to provide Fabry disease education and awareness, to promote continued research and data-gathering to improve treatment opportunities and to find a cure.
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Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Fabry Disease" for support, advocacy or research.
Our mission is to ensure that everyone in the world with a rare disease has a safe place to go and connect with others like them.
http://www.bensfriends.org To undertake public and private education and awareness, dissemination and publication of information about Fabry disease; initiate, encourage and support research and investigation into its causes and treatment, and to provide funds in respect thereof; to promote better understanding, management and treatment; and to arrange for, coordinate and increase the facilities available for diagnosis, consultation and treatment of those suffering from Fabry disease.
http://www.fabrycanada.com FINs vision is of a world where every person affected by Fabry disease has the best quality of life possible through early diagnosis, treatment and cure. The primary aim of the FIN is to facilitate collaboration between organizations to support those affected by Fabry disease. It seeks to do this primarily through enabling communication, promoting best practice and acting as an independent forum for Fabry patients around the world.
http://www.fabrynetwork.org/ It is the mission of the Fabry Support & Information Group to provide the Fabry community and the general public with information, advocacy, education and compassionate support to improve the quality of life and the quality of care for Fabry patients and family members.
http://www.Fabry.org The mission of the National Fabry Disease Foundation is to help ensure that all individuals with Fabry disease are identified, diagnosed and treated in time to avoid a diminished quality of life or life threatening consequences, to provide assistance to individuals with Fabry disease and their families, to provide Fabry disease education and awareness, to promote continued research and data-gathering to improve treatment opportunities and to find a cure.
http://www.fabrydisease.orgRecommended Apps
Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.
Finding the right clinical trial for Fabry Disease 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.
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 "Fabry Disease" returned 423 free, full-text research articles on human participants.
First 3 results:
Journal:
We here report the case of a 60-year old patient with congestive heart failure due to Fabry disease-related cardiopathy. This study has offered the opportunity to perform a literature review on cardiopathy related to this disease as well as to highlight the features of cardiac manifestation ...
Journal:
Fabry disease (FD) results from X-linked inheritance of a mutation in the GLA gene, encoding for alpha galactosidase A, and is characterized by heterogeneous clinical manifestations. Two phenotypes have been described "Classic" and "late onset" which cannot be predicted exclusively ...
Journal:
Fabry disease (FD) is an X-linked recessive hereditary lysosomal storage disorder which results in the accumulation of globotriaosylceramid (Gb3) in tissues of kidney and heart as well as central and peripheral nervous system. Besides prominent renal and cardiac organ involvement, ...
To view other free, full-text articles on human participants, please click on the link below.
Reviews from the PubMed Database
Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fabry Disease" returned 41 free, full-text review articles on human participants.
First 3 results:
Journal:
Anderson-Fabry disease (AFD) is an X-linked recessive inborn error of glycosphingolipid metabolism caused by a deficiency of alpha-galactosidase A. Renal failure, heart and cerebrovascular involvement reduce survival. A Cochrane review provided little evidence on the use of enzyme ...
Journal:
Fabry disease is caused by mutations in the gene and is characterized by a large genotypic and phenotypic spectrum. Missense mutations pose a special problem for graduating diagnosis and choosing a cost-effective therapy. Some mutants retain enzymatic activity, but are less stable ...
To view other free, full-text review articles on human participants, please click on the link below.
Symptoms, Diagnosis, and Treatment
https://ghr.nlm.nih.gov/gene/GLA
https://ghr.nlm.nih.gov/about/support-advocacy-groups
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Clinical Trial Information This information is provided by ClinicalTrials.gov
Condition Summary: Fabry's Disease
Condition Summary: Fabry Disease
Finding the right clinical trial for Fabry Disease 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.