Resources for Aspartyglucosaminuria (AGU)
Support for patients and families living with AGU
As the rare disease community strives to better understand AGU, consider these tools and partner sites for continued learning about life with this disease.
AGU Clinical Trials
There is a growing body of research on aspartylglucosaminuriaA rare neurodegenerative lysosomal storage disease (LSD) characterized by developmental delay, psychomotor regression, worsening intellectual disability, gait disturbance, and shortened lifespan. There are currently no available treatments for AGU. and the various AGA gene variants that cause it. This research is intended to fuel advances for the AGU patient and healthcare community.
There are a limited number of trials related to aspartylglucosaminuria. All current clinical trials are listed on ClinicalTrials.gov.
Get to Know the AGU Community
Rare Trait Hope Fund is an organization committed to raising funds and awareness of and to support and facilitate the development of a treatment and a cure for AGU.
www.raretrait.com
Suomen AGU ry is a Finnish AGU association for families and close relatives of people with AGU or those interested in AGU.
www.aguyhdistys.com/p/etusivu.html
Additional Resources
ISMRD is the leading advocate for families worldwide affected by a GlycoproteinA molecule made up of a carbohydrate and a protein that plays an essential role in the body, particularly in the body’s immune responses. Storage Disease. Through partnerships built with medicine, science and industry, we seek to detect and cure these diseases, and to provide a global network of support and information. We seek a future in which children with Glycoprotein Storage Diseases can be detected early, treated effectively, and go on to live long, healthy and productive lives.
https://www.ismrd.org/
Rare Diseases Clinical Research Network is a group committed to advancing medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment, and data sharing.
www.rarediseasesnetwork.org
Global Genes is an organization that helps to build awareness, educate the global community, and provide critical connections and resources that equip advocates to become activists for their rare diseases.
www.globalgenes.org
The National Organization for Rare Disorders (NORD®), an independent nonprofit, is leading the fight to improve the lives of rare disease patients and families. We work together to accelerate research, raise awareness, provide valuable information and drive public policy that benefits the estimated 25-30 million Americans impacted by rare diseases.
www.rarediseases.org
EveryLife Foundation is dedicated to advancing the development of treatment and diagnostic opportunities for rare disease patients through science-driven public policy.
www.everylifefoundation.org
EURORDIS-Rare Diseases Europe is a non-profit alliance of 864 rare disease patient organizations from 70 countries that work together to improve the lives of the 30 million people living with rare disease in Europe.
https://www.eurordis.org/
Genetic Alliance is an advocacy organization that engages individuals, families, and communities to transform health.
www.geneticalliance.org
The Child Neurology Foundation connects partners from all areas of the child neurology community so those navigating the journey of disease diagnosis, management, and care have the ongoing support of those dedicated to treatments and cures.
https://www.childneurologyfoundation.org/
The Alliance for Regenerative Medicine is an international community of small and large companies, non-profit research institutions, patient organizations, and other sector stakeholders dedicated to realizing the promise of regenerative medicine for patients around the world.
https://alliancerm.org/
The ARM Foundation for Cell and Gene Medicine educates, engages, and empowers patients, caregivers, industry leaders, and other stakeholders to help advance the science and benefits of gene and cell therapy.
https://www.thearmfoundation.org/
The Mighty is a supportive health community for people facing challenges and their families.
www.themighty.com
Established in 1996, the National Alliance for Caregiving is a non-profit coalition of national organizations focusing on advancing family caregiving through research, innovation, and advocacy. The Alliance conducts research, does policy analysis, develops national best-practice programs, and works to increase public awareness of family caregiving issues. Recognizing that family caregivers provide important societal and financial contributions toward maintaining the well-being of those they care for, the Alliance supports a network of more than 80 state and local caregiving coalitions and serves as Founder and Secretariat for the International Alliance of Carer Organizations (IACO).
https://www.caregiving.org/
Medical articles published about AspartylglucosaminuriaA rare neurodegenerative lysosomal storage disease (LSD) characterized by developmental delay, psychomotor regression, worsening intellectual disability, gait disturbance, and shortened lifespan. There are currently no available treatments for AGU. (AGU) can be found below:
Aronson, N.N. (1999). Aspartylglycosaminuria: biochemistry and molecular biology. Biochimica Biophysica Acta, 1455(2-3):139-54. Retrieved June 5, 2019 from link.
Saarela J., Oinonen, C., Jalanko, A., Rouvinen, J., Peltonen, L. (2004). Autoproteolytic activation of human aspartylglucosaminidase. The Biochemical Journal, 378(Pt 2):363-71. Retrieved June 5, 2019 from link.
