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 A 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 A variant is a change in DNA. A variant may or may not cause disease. The following modifiers describe the variant: (i) pathogenic, (ii) likely pathogenic, (iii) uncertain significance, (iv) likely benign, or (v) benign depending on whether or not the variant causes disease. For example, a “pathogenic variant” may cause disease. The term “variant” has replaced the term “mutation.” 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 A study conducted in humans that evaluates the effectiveness, safety, and side effects of investigational products (which could include both medications, treatments, or devices) that have the possibility of treating a disease in that particular patient group. 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.
Suomen AGU ry is a Finnish AGU association for families and close relatives of people with AGU or those interested in AGU.
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.
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.
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.
EveryLife Foundation is dedicated to advancing the development of treatment and diagnostic opportunities for rare disease patients through science-driven public policy.
Genetic Alliance is an advocacy organization that engages individuals, families, and communities to transform health.
The Mighty is a supportive health community for people facing challenges and their families.
Medical articles published about Aspartylglucosaminuria (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.