Patient Advocacy ❯ Resources

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:

• http://www.clinicaltrials.gov/ct2/resources
• The Center for Information and Study on Clinical Research Participation (CISCRP)

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
• Pompe Support Network
• 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

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:

• clinicaltrials.gov
• Global Genes™ – Allies in Rare Disease
• The Center for Information and Study on Clinical Research Participation (CISCRP)

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

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:

• http://www.clinicaltrials.gov/ct2/resources
• The Center for Information and Study on Clinical Research Participation (CISCRP)

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