Disease Resources | Amicus Therapeutics

Disease Resources

Pompe Disease

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

Gene Tests: http://www.genetests.org

Genetics Home Reference: http://ghr.nlm.nih.gov/condition=pompedisease

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:

http://www.clinicaltrials.gov/ct2/resources

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

 

CDKL5 Deficiency

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

Gene Tests: http://www.genetests.org

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

Loulou Foundation: http://www.louloufoundation.org/

Caley J. Brown Foundation: http://www.caleyjbrownfoundation.org/

CDKL5 Canada: https://www.canadahelps.org

CDKL5 Europe:
http://www.cdkl5europe.org

CDKL5 Italy:
http://www.cdkl5.org

CDKL5 Japan: http://www.cdkl5japan.com

CDKL5 Netherlands: http://www.cdkl-5.nl

CDKL5 UK: http://www.curecdkl5.org

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:

http://www.clinicaltrials.gov/ct2/resources

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

Epidermolysis Bullosa

Important Information for Patients About SD-101 for Epidermolysis Bullosa

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

Gene Tests: http://www.genetests.org

Genetics Home Reference: http://ghr.nlm.nih.gov/conditionGroup/epidermolysis-bullosa

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:

http://www.clinicaltrials.gov/ct/info/resources

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/