Danon DiseaseNCT03766386
The Natural History of Danon Disease
An observational study of Danon Disease, run by University of California, San Diego at 1 site in United States.
Trial summary
Danon disease (DD) is a rare, X-linked disorder associated with severe cardiomyopathy, and in many cases, skeletal myopathy, and cognitive impairment caused by mutations in the LAMP2 gene. There is still uncertainty regarding the natural history of DD because of its rarity. Read more about this study
- Who is it for?
- Ages 0 to 100 years
- Conditions the study is for
- Danon Disease
- How many people
- 200 participants
- Where
- 1 siteUnited States
- Study dates
- 30 Nov 2018to Nov 2024
- How long will I take part?
- 3 Years
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients diagnosed with Danon Disease (LAMP2 mutation) of any sex and any age.
Who may be able to join
- Living or deceased patients with a diagnosis of Danon disease(including patients who may or may not have undergone heart transplantation) based on a genetic test positive for the LAMP2 mutation
Who cannot join
- Patients without a genetic test positive for a LAMP2 mutation
Trial locations and contacts
1 site in 1 country.
United States1 site, 1 recruiting
- Recruiting
University of California, San Diego
San Diego, California, 92122-5671
Eric Adler, MD, eradler@ucsd.edu
Michela Brambatti, MD,MS, mbrambatti@ucsd.edu
About this study
Danon disease (DD) is a rare, X-linked disorder associated with severe cardiomyopathy, and in many cases, skeletal myopathy, and cognitive impairment caused by mutations in the LAMP2 gene. There is still uncertainty regarding the natural history of DD because of its rarity.
This study aims to determine the natural history of DD through the collection and analysis of retrospective and prospective data. To achieve this, the investigators will perform surveys and obtain medical records from DD patients. The same cohort of patients will also be assessed by a multidisciplinary team with expertise in DD (cardiologist, neurologist, ophthalmologist, psychologist, geneticist) at the University of California, San Diego. All patients with DD are eligible, including those who underwent a heart transplant. Additionally, data and records from deceased patients will provide valuable retrospective data for this study.
Read the detailed description
The study design will include:
- Collection of information for all patients from:
- Survey of patient or caregiver (if the patient has deceased)
- Medical Charts
- Collection of information from living patients assessed by the multidisciplinary team at the University of California, San Diego including:
- A complete medical history and physical examination
- Cardiac Testing (Electrocardiography; Echocardiography; Cardiac magnetic resonance imaging with gadolinium contrast agent-gadolinium contrast is optional-; Cardiopulmonary Test)
- Pulmonary function testing (PFT)
- Neuromuscular Assessment
- Cognitive Tests
- Vision exam including retinal evaluation
- Laboratory Tests
- Questionnaires on Quality of life
- Needle Skeletal muscle biopsy (only for patients over 18 years old)
- Abdominal Ultrasound for assessment of the liver structure
- Conditions
- Danon Disease
- Medical subject headings
- Glycogen Storage Disease Type IIb
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Danon Disease Patients | Patients with a confirmed diagnosis of Danon disease who are currently alive (including patients who may or may not have undergone heart transplantation). | |
| Deceased Danon Disease Patients | Patients with a confirmed diagnosis of Danon disease who are deceased (including patients who may or may not have undergone heart transplantation). |
What is being measured
The primary outcome is the main question the study is designed to answer.
Cardiac structure over time
Change of cardiac structure (wall thickness -mm) measured by cardiac ultrasound / cardiac magnetic resonance
Measured: 6, 12, 18, 24, 30, 36 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Dec 2018
- Study start30 Nov 2018
- Primary completionNov 2024 (estimated)
- Study completionNov 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Danon DiseaseStudies of the same condition, open and under way.
- More trials run by University of California, San DiegoThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 200 participants (estimated)
- Target duration
- 3 Years
Sponsor and investigators
- Lead sponsor
- University of California, San Diego
- Sponsor type
- University, hospital or other
- Collaborators
- Rocket Pharmaceuticals Inc.
- Responsible party
- Principal investigator, Eric Adler, MD, University of California, San Diego
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03766386
- Sponsor's protocol ID
- 170727
- Status last verified
- May 2022
- First submitted
- 30 Nov 2018
- Last updated
- 12 May 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Hong KN, Eshraghian E, Khedro T, Argiro A, Attias J, Storm G, Tsotras M, Bloks T, Jackson I, Ahmad E, Graw S, Mestroni L, Bui QM, Schwartz J, Turner S, Adler ED, Taylor M. An International Longitudinal Natural History Study of Patients With Danon Disease: Unique Cardiac Trajectories Identified Based on Sex and Heart Failure Outcomes. J Am Heart Assoc. 2025 Apr;14(7):e038394. doi: 10.1161/JAHA.124.038394. Epub 2025 Mar 21.
PubMed 40118805
Study at a glance
From the registry record, last updated by the sponsor on 12 May 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Natural History of Danon Disease
- ClinicalTrials.gov ID
- NCT03766386
- Acronym / sponsor ID
- 170727
- Conditions
- Danon Disease
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- University of California, San DiegoUniversity, hospital or other
- Collaborators
- Rocket Pharmaceuticals Inc.
- Study start
- 30 Nov 2018 (actual)
- Primary completion
- Nov 2024 (estimated)
- Study completion
- Nov 2024 (estimated)
- First posted
- 6 Dec 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Danon disease (DD) is a rare, X-linked disorder associated with severe cardiomyopathy, and in many cases, skeletal myopathy, and cognitive impairment caused by mutations in the LAMP2 gene. There is still uncertainty regarding the natural history of DD because of its rarity.
This study aims to determine the natural history of DD through the collection and analysis of retrospective and prospective data. To achieve this, the investigators will perform surveys and obtain medical records from DD patients. The same cohort of patients will also be assessed by a multidisciplinary team with expertise in DD (cardiologist, neurologist, ophthalmologist, psychologist, geneticist) at the University of California, San Diego. All patients with DD are eligible, including those who underwent a heart transplant. Additionally, data and records from deceased patients will provide valuable retrospective data for this study.
Detailed description
The study design will include:
- Collection of information for all patients from:
- Survey of patient or caregiver (if the patient has deceased)
- Medical Charts
- Collection of information from living patients assessed by the multidisciplinary team at the University of California, San Diego including:
- A complete medical history and physical examination
- Cardiac Testing (Electrocardiography; Echocardiography; Cardiac magnetic resonance imaging with gadolinium contrast agent-gadolinium contrast is optional-; Cardiopulmonary Test)
- Pulmonary function testing (PFT)
- Neuromuscular Assessment
- Cognitive Tests
- Vision exam including retinal evaluation
- Laboratory Tests
- Questionnaires on Quality of life
- Needle Skeletal muscle biopsy (only for patients over 18 years old)
- Abdominal Ultrasound for assessment of the liver structure
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 3 Years
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Danon Disease Patients | – | –Patients with a confirmed diagnosis of Danon disease who are currently alive (including patients who may or may not have undergone heart transplantation). |
| Deceased Danon Disease Patients | – | –Patients with a confirmed diagnosis of Danon disease who are deceased (including patients who may or may not have undergone heart transplantation). |
Who may qualify
- Ages
- 0 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients diagnosed with Danon Disease (LAMP2 mutation) of any sex and any age.
Key inclusion criteria (1 listed)
- Living or deceased patients with a diagnosis of Danon disease(including patients who may or may not have undergone heart transplantation) based on a genetic test positive for the LAMP2 mutation
Key exclusion criteria (1 listed)
- Patients without a genetic test positive for a LAMP2 mutation
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Cardiac structure over time
Time frame: 6, 12, 18, 24, 30, 36 months
Change of cardiac structure (wall thickness -mm) measured by cardiac ultrasound / cardiac magnetic resonance
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 May 2022.
- Derived from this study: PubMed 40118805Hong KN, Eshraghian E, Khedro T, Argiro A, Attias J, Storm G, Tsotras M, Bloks T, Jackson I, Ahmad E, Graw S, Mestroni L, Bui QM, Schwartz J, Turner S, Adler ED, Taylor M. An International Longitudinal Natural History Study of Patients With Danon Disease: Unique Cardiac Trajectories Identified Based on Sex and Heart Failure Outcomes. J Am Heart Assoc. 2025 Apr;14(7):e038394. doi: 10.1161/JAHA.124.038394. Epub 2025 Mar 21.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Danon Disease, run by University of California, San Diego at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 12 May 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Eric Adler, MD (8582462996, eradler@ucsd.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Cardiac structure over time (time frame: 6, 12, 18, 24, 30, 36 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03766386, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 May 2022.