Disease Resources | Amicus Therapeutics

Disease Resources

Fabry Disease

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

FabryFacts.com: Disease Education and Resources (Sponsored by Amicus)

Online Mendelian Inheritance in Man (OMIM)

Gene Tests

Genetics Home Reference

National Institute of Neurological Disorders and Stroke

eMedicine (free registration may be required)


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:

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

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

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/

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

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 Diseasehttp://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 Diseasehttp://www.globalgenes.org

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


ADDITIONAL EPIDERMOLYSIS BULLOSA CLINICAL TRIALS INFORMATION

SD-101: Phase 3 Study SD-005 
Study of Efficacy and Safety of SD-101 Cream in Patients with Epidermolysis Bullosa

Active, not recruiting.

A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study of the Efficacy and Safety of SD-101 Cream in patients 1 month and older with a diagnosis of Simplex, Recessive Dystrophic, or Junctional non-Herlitz EB who have a wound that meets specific study criteria as assessed by a healthcare professional. SD-101 (6%) or placebo will be applied topically, once a day to the entire body for a period of 90 days. Patients who complete the study will be eligible to enroll in an open-label extension Study (SD-006).

More information: www.clinicaltrials.gov: NCT02384460


SD-101: Open-Label Extension Study SD-004
Open Label Extension Study to Evaluate the Safety of SD-101 Cream in Subjects with Epidermolysis Bullosa

Ongoing, recruitment closed. Patients who completed the treatment period in the Phase 2b study (SD-003) of SD-101 were eligible to roll over into SD-004.

Open-label extension study to assess the continued safety of topically applied SD-101 Cream (6%) in subjects with Simplex, Recessive Dystrophic, and Junctional non-Herlitz EB. SD-101 (6%) is applied topically, once a day to the entire body.

More information: www.clinicaltrials.gov: NCT02090283


EPIDERMOLYSIS BULLOSA POSTERS, PUBLICATIONS AND JOURNAL ARTICLES

WORLD CONGRESS OF PEDIATRIC DERMATOLOGY 2017

SOCIETY OF INVESTIGATIVE DERMATOLOGY ANNUAL MEETING 2017

SOCIETY FOR PEDIATRIC DERMATOLOGY ANNUAL MEETING – JULY 2016

AMERICAN ACADEMY OF DERMATOLOGY ANNUAL MEETING – MARCH 2016