Patient Advocacy

External Resources

For information on Fabry disease, please refer to the following resources:

FabryFacts.com: Disease Education and Resources (Sponsored by Amicus): http://www.fabryfacts.com
Online Mendelian Inheritance in Man (OMIM): http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM
National Institute of Neurological Disorders and Stroke, NIH: http://www.ninds.nih.gov/disorders/fabrys/fabrys.htm
eMedicine (free registration may be required): http://emedicine.medscape.com/article/1952086-overview

The following websites offer additional information and support for individuals and families living with Fabry disease:

Fabry Support and Information Group (FSIG): http://www.fabry.org
Canadian Fabry Association: http://www.fabrycanada.com
National Fabry Disease Foundation (NFDF): http://www.fabrydisease.org
UK Society for Mucopolysaccharide Diseases: http://www.mpssociety.co.uk
Fabry International Network (FIN) – including links to many individual country Fabry organizations: http://www.fabryintnetwork.com
National Organization for Rare Disorders (NORD): http://www.rarediseases.org
European Organization for Rare Diseases (EURORDIS): http://www.eurordis.org
Genetic Alliance: http://www.geneticalliance.org
National Tay-Sachs and Allied Diseases Association (NTSAD): http://www.ntsad.org
NIH Genetic and Rare Diseases Information Center: http://rarediseases.info.nih.gov
National Society of Genetic Counselors: http://www.nsgc.org
Global Genes™ - Allies in Rare Disease: http://globalgenes.org

Information for patients and families about participating in clinical trials is available at the following websites:

The Center for Information and Study on Clinical Research Participation (CISCRP): http://www.ciscrp.org/

To view scientific articles which report data on the use of pharmacological chaperone technology in Fabry disease, please click here.

For information on EB, please refer to the following resources:

Online Mendelian Inheritance in Man (OMIM): http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM
eMedicine (free registration may be required): http://www.medscape.com

The following websites offer additional information and support for individuals and families living with EB:

The Dystrophic Epidermolysis Bullosa Research Association of America (DebRA): http://www.debra.org
DEBRA International: http://www.debra.org/international
The EB Research Partnership (EBRP): http://www.ebresearch.org
National Organization for Rare Disorders (NORD): http://www.rarediseases.org
European Organization for Rare Diseases (EURORDIS): http://www.eurordis.org
Genetic Alliance: http://www.geneticalliance.org
NIH Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/gard/6359/epidermolysis-bullosa/resources/1
National Society of Genetic Counselors: http://www.nsgc.org
Global Genes™ - Allies in Rare Disease http://www.globalgenes.org

Information for patients and families about participating in clinical trials is available at the following websites:

Global Genes™ - Allies in Rare Disease http://www.globalgenes.org
The Center for Information and Study on Clinical Research Participation (CISCRP): http://www.ciscrp.org/

To view scientific articles which report data on a novel and proprietary topical treatment under investigation for EB, please click here.

For additional information on Pompe disease, please refer to the following resources:

Online Mendelian Inheritance in Man (OMIM): http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM
National Institute of Neurological Disorders and Stroke, NIH: http://www.ninds.nih.gov/disorders/pompe/pompe.htm
eMedicine (free registration may be required): http://www.emedicine.com/ped/TOPIC1866.HTM

The following websites offer additional information and support for individuals and families living with Pompe disease:

Association for Glycogen Storage Disease: http://www.agsdus.org
United Pompe Foundation: http://www.unitedpompe.com
Muscular Dystrophy Association: http://www.mdausa.org
International Pompe Association: http://www.worldpompe.org
UK Association for Glycogen Storage Disease: http://www.pompe.org.uk
Australian Pompe Association:
http://www.australianpompe.com
Canadian Association of Pompe:
http://www.pompecanada.com
Acid Maltase Deficiency Association (AMDA): http://www.amda-pompe.org
National Organization for Rare Disorders (NORD): http://www.rarediseases.org
European Organization for Rare Diseases (EURORDIS): http://www.eurordis.org/
Genetic Alliance: http://www.geneticalliance.org
National Tay-Sachs and Allied Diseases Association (NTSAD): http://www.ntsad.org
NIH Genetic and Rare Diseases Information Center: http://rarediseases.info.nih.gov
National Society of Genetic Counselors http://www.nsgc.org
Global Genes™ - Allies in Rare Disease: http://globalgenes.org

Information for patients and families about participating in clinical trials is available at the following websites:

The Center for Information and Study on Clinical Research Participation (CISCRP): http://www.ciscrp.org/

To view scientific articles which report data on the use of pharmacological chaperone technology in Pompe disease, please click here.

 

For more information on CDKL5, please refer to the following resources:

Online Mendelian Inheritance in Man (OMIM): http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM
Genetics Home Reference: https://ghr.nlm.nih.gov/gene/CDKL5
eMedicine (free registration may be required): http://www.medscape.com

The following websites offer additional information and support for individuals and families living with CDKL5 Deficiency:

International Foundation for CDKL5 Research: http://www.cdkl5.com/
CDKL5 International Database: http://www.cdkl5.com/research/database.aspx
Caley J. Brown Foundation: http://www.caleyjbrownfoundation.org/
CDKL5 Italy:
http://www.cdkl5.org
CDKL5 Netherlands: http://www.cdkl-5.nl
Epilepsy Foundation: http://www.epilepsy.com
National Organization for Rare Disorders (NORD): http://www.rarediseases.org
European Organization for Rare Diseases (EURORDIS): http://www.eurordis.org/
Genetic Alliance: http://www.geneticalliance.org
NIH Genetic and Rare Diseases Information Center: http://rarediseases.info.nih.gov
National Society of Genetic Counselors: http://www.nsgc.org
Global Genes™ - Allies in Rare Disease: http://globalgenes.org

Information for patients and families about participating in clinical trials is available at the following websites:

The Center for Information and Study on Clinical Research Participation (CISCRP): http://www.ciscrp.org