Danon Disease
What is Danon Disease?
What is Danon Disease?
Danon Disease (DD) is a rare, genetically inherited disease that primarily affects the heart, but can involve other organ systems throughout the body. It arises from a defect in the gene, Lysosomal Associated Membrane Protein 2 (LAMP2), which is carried on the X-chromosome, and thus this disease can be passed from parents to children. For females, a defective LAMP2 gene in one of the two X-chromosomes can result in the disease. In some cases, mutations can be de novo, meaning that they arise sporadically. Symptoms may include heart failure, muscle weakness, poor vision, and learning difficulties early in childhood. Patients present with symptoms as early as 8 years. Prognosis for male patients is poor, as many die or require heart transplant in their teens; affected females have a more variable presentation ranging from mild disease to severe cases requiring heart transplant in late puberty or adolescence.
What is Danon Disease?
Danon Disease (DD) is a rare, genetically inherited disease that primarily affects the heart, but can involve other organ systems throughout the body. It arises from a defect in the gene, Lysosomal Associated Membrane Protein 2 (LAMP2), which is carried on the X-chromosome, and thus this disease can be passed from parents to children. For females, a defective LAMP2 gene in one of the two X-chromosomes can result in the disease. In some cases, mutations can be de novo, meaning that they arise sporadically. Symptoms may include heart failure, muscle weakness, poor vision, and learning difficulties early in childhood. Patients present with symptoms as early as 8 years. Prognosis for male patients is poor, as many die or require heart transplant in their teens; affected females have a more variable presentation ranging from mild disease to severe cases requiring heart transplant in late puberty or adolescence.
How can RareShare be helpful to Danon Disease patients and families?
The RareShare Community can help to raise awareness about Danon disease and the ongoing clinical trials. With better education, we hope to avoid delay or misdiagnosis for patients with this rare disease. By fostering discussion, we can help connect patients, health workers, caregivers and families interested in Danon Disease and provide them with continual access to community resources.
What is the prevalence of Danon Disease?
The real prevalence is unknown, but estimates suggest that the disease may affect 5,000-30,000 individuals. Numbers are expected to rise with improved awareness of the disease and greater availability of genetic testing for LAMP2 mutation.
How is Danon Disease Diagnosed?
Although no specific diagnostic criteria have been established, the diagnosis is usually made by identifying mutations in the LAMP2 gene in the context of either typical clinical manifestations or pathognomonic findings on muscle biopsy. In addition, laboratory abnormalities (i.e. liver enzymes, CPK) are common, and may assist with diagnosis. As in other rare diseases, delayed diagnosis and misdiagnosis are common. For this reason, both males and females with early-onset cardiomyopathy (dilated or hypertrophic) and/or skeletal muscle disease or family history of Danon Disease should be screened. If LAMP2 mutation is identified, proper genetic counselling should be offered.
How is Danon Disease treated?
Currently, Danon Disease treatment primarily involves supportive therapies for each patient’s specific set of complications. In specific cases of heart failure due to Danon Disease, specific cardiac medications may be used. However, in progressive or severe cases, heart transplantation or the use of implantable cardiac defibrillators may be warranted. While there are currently no therapies available to cure Danon Disease, Rocket Pharmaceuticals, in collaboration with Dr.Eric Adler at UC San Diego Medical Center, is working on a new therapy with plans for in human subjects in 2019.
Are there any clinical trials underway for Danon Disease?
There is a Natural History of Danon Disease Study overseen by Dr. Eric Adler at UC San Diego Medical Center. Patients with Danon Disease will be evaluated by a multidisciplinary team (cardiologist, geneticist, neurologist, psychologist, ophthalmologist) for 3 years. The study will allow scientists and clinicians to learn more about the disease and develop future therapies. Please see clinical trials.gov for more information.
https://clinicaltrials.gov/ct2/show/NCT03766386?cond=danon+disease&rank=1
Clinical Trials
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
- Complete the screening form.
- Review the informed consent.
- Answer the permission and data sharing questions.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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