Resource Directory

Research publications and clinical trials dedicated to improving knowledge, diagnosis, and care for individuals affected by Danon Disease

This page provides access to recent research publications and ongoing clinical trials related to Danon Disease. We’ve gathered a selection of research studies and clinical trials to help our community stay informed about scientific developments and treatment advances.

Note: Some pages on this site include links to external research publications and medical resources. We only share links to trusted sources such as PubMed, journal publishers, and open-access articles. The Danon Foundation does not host or reproduce copyrighted research content and is not responsible for the accuracy or availability of information on external websites.

For details, please see our full External Links & Research Citation Policy (PDF).

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Trials Rare Glycogen Storage Diseases Natural History Study The purpose of this study is to collect and study key medical data about several ultra-rare GSDs (Glycogen Storage Diseases) including, but not limited to, GSD types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome and Danon disease.
  • Registry: ClinicalTrials.gov
  • Phase: Observational
  • Status: Recruiting
View trial Posted: October 18, 2025 Topic(s): Clinical Studies, Clinical Trials, Research Audience(s): Patients and Caregivers, Providers, Researchers
Trials Analysis of Clinical features and Echocardiographic / ML algorithms (includes rare cardiomyopathies) This study sought to develop an algorithm by collecting echocardiographic image information and related clinical information capable of quantitatively evaluating changes of the myocardium through machine learning. This multicenter retrospective observational study in South Korea included Danon Disease.
  • Registry: ClinicalTrials.gov
  • Phase: Observational
  • Status: Unknown
View trial Posted: October 18, 2025 Topic(s): Clinical Studies, Clinical Trials, Research Audience(s): Patients and Caregivers, Providers, Researchers
Trials Healthcare Utilization and Economic Burden of Cardiomyopathy in China In this study of patients recruited from multiple centers in China between March 2017 and March 2022, investigators collected clinical information and costs of patients hospitalized with cardiomyopathy and establish a database to evaluate the economic burden of cardiomyopathy. The study included various subtypes of cardiomyopathies including Danon Disease.
  • Registry: ClinicalTrials.gov
  • Status: Enrolling by Invitation
  • Phase: Observational
View trial Posted: October 18, 2025 Topic(s): Clinical Studies, Clinical Trials, Research Audience(s): Patients and Caregivers, Providers, Researchers
Trials Natural History of Danon Disease This is a multicenter, international, non-interventional, natural history study designed to collect longitudinal retrospective clinical information on patients with Danon Disease. This study is composed of a feasibility study and retrospective chart review. The status of this study is Completed as of November 2023.
  • Registry: ClinicalTrials.gov
  • Status: Completed
  • Phase: Observational
View trial Posted: October 18, 2025 Topic(s): Clinical Studies, Clinical Trials, Research Audience(s): Patients and Caregivers, Providers, Researchers
Trials The Natural History of Danon Disease This study aims to determine the natural history of Danon Disease through the collection and analysis of retrospective and prospective data. The last known status of this study at UCSD was recruiting; however, it has passed its estimated completion date of November 2024.
  • Registry: ClinicalTrials.gov
  • Phase: Observational
  • Status: Unknown
View trial Posted: October 18, 2025 Topic(s): Clinical Studies, Clinical Trials, Research Audience(s): Patients and Caregivers, Providers, Researchers
Trials Danon Disease Natural History Study An international study that is tracking how Danon Disease progresses over time (natural history) in males older than 8 years of age and females younger than 30 years of age using medical records and ongoing follow-up. Researchers will measure heart changes, symptoms, quality of life, and major health events to better understand the disease for individuals managed with current standard of care. A hybrid (retrospective and prospective data collection) approach is being taken to generate robust and longitudinal data.
  • Status: Active, Recruiting
  • Registry: ClinicalTrials.gov
  • Phase: Observational
View trial Posted: October 18, 2025 Topic(s): Clinical Studies, Clinical Trials, Research Audience(s): Patients and Caregivers, Providers, Researchers
Trials A Gene Therapy Study of RP-A501 in Male Patients With Danon Disease A global, multi-center Phase 2 pivotal trial to evaluate the efficacy and safety of RP-A501, containing the human LAMP2B transgene, in male patients with Danon Disease. This study is currently active (not recruiting patients) and has locations in the United States, Germany, Italy and the UK.
  • Status: Active, Recruiting
  • Registry: ClinicalTrials.gov
  • Phase: Phase 2
View trial Posted: October 18, 2025 Topic(s): Clinical Studies, Clinical Trials, Research Audience(s): Patients and Caregivers, Providers, Researchers
Trials Gene Therapy for Male Patients With Danon Disease Using AAV9.LAMP2B (RP-A501) A non-randomized open-label Phase 1 study to evalute the safety and toxicity of a gene therapy called RP-A501, containing the human LAMP2B transgene, in male patients wtih Danon Disease. This trial is no longer enrolling patients.
  • Status: Active, Not Recruiting
  • Registry: ClinicalTrials.gov
  • Phase: Phase 1
View trial Posted: October 18, 2025 Topic(s): Clinical Studies, Clinical Trials, Research Audience(s): Patients and Caregivers, Providers, Researchers
Research Publication A novel LAMP2 initiation codon mutation causes Danon Disease: a case report A cardiac assessment and case report of a 30-year old woman in China with strongly-suspected pathogenicity to Danon Disease.
  • Published Year: 2025
  • Publication Type: Case reports
  • Journal: Frontiers in Cardiovascular Medicine
Read publication Posted: October 18, 2025 Topic(s): Case Report, LAMP2 Audience(s): Providers, Researchers
Research Publication Identification of LAMP2 mutations in early-onset Danon disease by targeted NGS A genetics study identifying LAMP2 mutations in early-onset Danon Disease by targetd NGS.
  • Published Year: 2016
  • Journal: Am J Cardiol
  • Publication Type: Genetics/NGS
Read publication Posted: October 18, 2025 Topic(s): Genetics, LAMP2 Audience(s): Providers, Researchers
Research Publication Retinal dystrophy and mechanisms through LAMP2-mutated RPE An ophthalmology study on retinal dystrophy and mechanisms through LAMP2-mutated RPE.
  • Published Year: 2020
  • Journal: Eur J Ophthalmol
  • Publication Type: Ophthalmology
Read publication Posted: October 18, 2025 Topic(s): LAMP2, Retinopathy Audience(s): Providers, Researchers
Research Publication Progression of Danon disease with medical imaging An imaging review study of the progression of Danon Disease over time with medical imaging.
  • Published Year: 2021
  • Journal: Front Cardiovasc Med
  • Publication Type: Imaging review
Read publication Posted: October 18, 2025 Topic(s): Imaging Audience(s): Providers, Researchers
Research Publication ClinVar / ClinGen LAMP2 variant resources A variant database study on pathogenicity.
  • Journal: NCBI
  • Publication Type: Variant database
Read publication Posted: October 18, 2025 Topic(s): LAMP2 Audience(s): Providers, Researchers
Research Publication Danon disease – GeneReviews A clinical genetics resource study and authoritative genetics summary of Danon Disease.
  • Publication Type: Clinical genetics resource
  • Journal: GeneReviews (NCBI Bookshelf)
Read publication Posted: October 18, 2025 Topic(s): Genetics, LAMP2 Audience(s): Providers, Researchers
Research Publication Mutational hotspot in LAMP2 gene A genetics study and analysis of recurrent LAMP2 variants.
  • Published Year: 2024
  • Publication Type: Genetics
  • Journal: Int J Mol Sci
Read publication Posted: October 18, 2025 Topic(s): Genetics, LAMP2 Audience(s): Providers, Researchers
Research Publication Danon disease: cases and surgical/pathology correlations (transplant pathology) A clinicopathologic study of Danon Disease. Case study insights and surgical and transplant pathology correlations.
  • Published Year: 2024
  • Publication Type: Clinicopathologic
  • Journal: J Cardiovasc Dev Dis
Read publication Posted: October 18, 2025 Topic(s): Case Report, Pathology, Transplant Audience(s): Providers, Researchers
Research Publication Identification of Two Novel LAMP2 Gene Mutations in Danon Disease A genetics study reports two novel LAMP2 gene mutations in Danon Disease.
  • Published Year: 2016
  • Journal: Can J Cardiol
  • Publication Type: Genetics
Read publication Posted: October 18, 2025 Topic(s): Genetics, LAMP2 Audience(s): Providers, Researchers
Research Publication History and Perspective of LAMP-2 Deficiency (Danon Disease) A review of history and perspectives of Danon Disease.
  • Published Year: 2024
  • Journal: Int J Mol Sci
  • Publication Type: Review
Read publication Posted: October 18, 2025 Topic(s): Advances in Treatment, Diagnosis, Disease Management, Natural History Audience(s): Providers, Researchers
Research Publication Danon disease: underdiagnosed cause of advanced heart failure in young female patients (LAMP2 flow cytometric study) A diagnostics study flow cytometry screening in females and the underdiagnosed cause of advanced heart failure in young female patients.
  • Published Year: 2020
  • Publication Type: Diagnostics
  • Journal: ESC Heart Fail
Read publication Posted: October 18, 2025 Topic(s): Case Report, LAMP2 Audience(s): Providers, Researchers
Research Publication Hashem SI et al. iPSC model (Stem Cells) An iPSC model study recapitulates Danon Disease features in vitro.
  • Published Year: 2015
  • Publication Type: iPSC model
  • Journal: Stem Cells
Read publication Posted: October 18, 2025 Topic(s): iPSC, Preclinical Research, Stem Cells Audience(s): Providers, Researchers
Research Publication Danon disease in a 14-year-old: exclusively cardiac presentation A case report study of a 14-year old adolescent cardiac-only case.
  • Published Year: 2024
  • Publication Type: Case Report
  • Journal: JACC Case Reports
Read publication Posted: October 18, 2025 Topic(s): Case Report, Gender, Sex Audience(s): Providers, Researchers
Research Publication LAMP2 microdeletions in patients with Danon disease A study of LAMP2 microdeletions in patients with Danon Disease.
  • Published Year: 2010
  • Publication Type: Genetics
  • Journal: Hum Mutat
Read publication Posted: October 18, 2025 Topic(s): Genetics, LAMP2 Audience(s): Providers, Researchers
Research Publication Danon disease: diagnosis made by cardiac magnetic resonance Imaging case study CMR-based diagnostic case report on Danon Disease.
  • Published Year: 2024
  • Publication Type: Imaging case
  • Journal: J Cardiovasc Magn Reson (Case)
Read publication Posted: October 18, 2025 Topic(s): Imaging Audience(s): Providers, Researchers
Research Publication De novo LAMP2 insertion mutation causes cardiac-only Danon disease De novo LAMP2 insertion mutation causes cardiac-only Danon Disease. This case report study novel frameshift causing cardiac-only phenotype.
  • Published Year: 2022
  • Publication Type: Case Report
  • Journal: Front Cardiovasc Med
Read publication Posted: October 18, 2025 Topic(s): Case Report, Genetics, LAMP2 Audience(s): Providers, Researchers
Research Publication Danon disease: dysregulation of autophagy in a multisystem disease A autophagy-focused review study in Danon Disease.
  • Published Year: 2016
  • Journal: Autophagy
  • Publication Type: Review
Read publication Posted: October 18, 2025 Topic(s): Autophagy Audience(s): Providers, Researchers