Disease Resources | Amicus Therapeutics

Disease Resources

Batten Disease

For more information on Batten 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: https://ghr.nlm.nih.gov/

eMedicine (free registration may be required): http://www.medscape.com


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

Batten Disease Support & Research Association: https://bdsra.org/

Beyond Batten Foundation: https://beyondbatten.org/

Taylor’s Tale: https://taylorstale.org/

The Charlotte & Gwenyth Gray Foundation to Cure Batten Disease: www.curebatten.org

Mila’s Miracle Foundation, Inc.:  https://stopbatten.org/

CLIMB (Children Living with Metabolic Diseases): http://www.CLIMB.org.uk

National Association for Parents of Children with Visual Impairments (NAPVI): http://www.napvi.org

National Pediatric Neuroinflammation Organization, Inc: http://www.omsusa.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 Disorder (CDD)

For more information on CDD, 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 CDD:

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/

Fabry Disease

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

FabryFacts.com: Disease Education and Resources (Sponsored by Amicus): http://www.fabryfacts.com

Fabry Connect: Fabry Disease Resources for Patients and Families (Sponsored by Amicus): https://fabryconnect.fabryfacts.com

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=fabrydisease

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.fabrynetwork.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/

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 Counselorshttp://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/