Marlou, Age 24
Living with Fabry Disease
Patient Advocacy ❯ Resources
Note: The following links will take you to websites that are not owned or maintained by Amicus Therapeutics, Inc. and to which this Privacy Policy does not apply.
Batten Disease
For more information on Batten disease, please refer to the following resources:
- Online Mendelian Inheritance in Man (OMIM)
- Gene Tests
- Genetics Home Reference
- eMedicine (free registration may be required)
Information for patients and families about participating in clinical trials is available at the following websites:
The following websites offer additional information and support for individuals and families living with Batten disease:
- Batten Disease Support & Research Association
- Beyond Batten Foundation
- Taylor’s Tale
- The Charlotte & Gwenyth Gray Foundation to Cure Batten Disease
- Mila’s Miracle Foundation, Inc.
- CLIMB (Children Living with Metabolic Diseases)
- National Association for Parents of Children with Visual Impairments (NAPVI)
- National Pediatric Neuroinflammation Organization, Inc
- National Organization for Rare Disorders (NORD)
- European Organization for Rare Diseases (EURORDIS)
- Genetic Alliance
- National Tay-Sachs and Allied Diseases Association (NTSAD)
- NIH Genetic and Rare Diseases Information Center
- National Society of Genetic Counselors
- Global Genes™ – Allies in Rare Disease
CDKL5 Deficiency Disorder (CDD)
For more information on CDD, please refer to the following resources:
- Online Mendelian Inheritance in Man (OMIM)
- Gene Tests
- Genetics Home Reference
- eMedicine (free registration may be required)
Information for patients and families about participating in clinical trials is available at the following websites:
The following websites offer additional information and support for individuals and families living with CDD:
- International Foundation for CDKL5 Research
- CDKL5 International Database
- Loulou Foundation
- CDKL5 Canada
- CDKL5 Europe
- CDKL5 Italy
- CDKL5 Japan
- CDKL5 Netherlands
- CDKL5 UK
- Epilepsy Foundation
- National Organization for Rare Disorders (NORD)
- European Organization for Rare Diseases (EURORDIS)
- Genetic Alliance
- NIH Genetic and Rare Diseases Information Center
- National Society of Genetic Counselors
- Global Genes™ – Allies in Rare Disease
Epidermolysis Bullosa
Important Information for Patients About SD-101 for Epidermolysis Bullosa
For more information on EB, please refer to the following resources.
- Online Mendelian Inheritance in Man (OMIM)
- Gene Tests
- Genetics Home Reference
- eMedicine (free registration may be required)
Information for patients and families about participating in clinical trials is available at the following websites:
The following websites offer additional information and support for individuals and families living with EB:
- The Dystrophic Epidermolysis Bullosa Research Association of America (DebRA)
- DEBRA International
- The EB Research Partnership (EBRP)
- National Organization for Rare Disorders (NORD)
- European Organization for Rare Diseases (EURORDIS)
- Genetic Alliance
- NIH Genetic and Rare Diseases Information Center
- National Society of Genetic Counselors
- Global Genes™ – Allies in Rare Disease
Fabry Disease
For information on Fabry disease, please refer to the following resources:
- FabryFacts.com: Disease Education and Resources (Sponsored by Amicus):
- Fabry Connect: Fabry Disease Resources for Patients and Families (Sponsored by Amicus):
- Online Mendelian Inheritance in Man (OMIM)
- Gene Tests
- Genetics Home Reference
- National Institute of Neurological Disorders and Stroke, NIH
- eMedicine (free registration may be required)
Information for patients and families about participating in clinical trials is available at the following websites:
The following websites offer additional information and support for individuals and families living with Fabry disease:
- Fabry Support and Information Group (FSIG)
- Canadian Fabry Association
- National Fabry Disease Foundation (NFDF)
- UK Society for Mucopolysaccharide Diseases
- Fabry International Network (FIN) – including links to many individual country Fabry organizations
- National Organization for Rare Disorders (NORD)
- European Organization for Rare Diseases (EURORDIS)
- Genetic Alliance
- National Tay-Sachs and Allied Diseases Association (NTSAD)
- NIH Genetic and Rare Diseases Information Center
- National Society of Genetic Counselors
- Global Genes™ – Allies in Rare Disease
Pompe Disease
For additional information on Pompe disease, please refer to the following resources:
- Online Mendelian Inheritance in Man (OMIM)
- Gene Tests
- Genetics Home Reference
- National Institute of Neurological Disorders and Stroke, NIH
- eMedicine (free registration may be required)
Information for patients and families about participating in clinical trials is available at the following websites:
The following websites offer additional information and support for individuals and families living with Pompe disease:
- Association for Glycogen Storage Disease
- United Pompe Foundation
- Muscular Dystrophy Association
- International Pompe Association
- UK Association for Glycogen Storage Disease
- Australian Pompe Association
- Canadian Association of Pompe
- Acid Maltase Deficiency Association (AMDA)
- National Organization for Rare Disorders (NORD)
- European Organization for Rare Diseases (EURORDIS)
- Genetic Alliance
- National Tay-Sachs and Allied Diseases Association (NTSAD)
- NIH Genetic and Rare Diseases Information Center
- National Society of Genetic Counselors
- Global Genes™ – Allies in Rare Disease
Rare Stories
Be inspired by people living with rare diseases across the globe.