Danon DiseaseNCT06214507
Danon Disease Natural History Study
An observational study of Danon Disease, run by Rocket Pharmaceuticals Inc. at 16 sites in 7 countries.
Trial summary
The goal of this international observational study is to learn about the natural history of Danon disease in male patients (≥8 years of age) and female patients (8 to 50 years of age). Read more about this study
- Who is it for?
- Ages 8 years and older
- Conditions the study is for
- Danon Disease
- How many people
- 60 participants
- Where
- 16 sitesin 7 countries
- Study dates
- 20 Dec 2023to Mar 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 8 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Male patients 8 years of age and over, Female patients 8 to 50 years of age (at the point of enrollment) with confirmed Danon disease recruited from a range of applicable care settings.
Who may be able to join
None listed.
Who cannot join
- All Cohorts:
- Concurrent enrollment in any other clinical investigation involving use of an investigational agent for any condition at time of enrollment to this study that could confound interpretation of this study
- Previous treatment with a gene therapy
- Prospective Cohort:
- Prior mechanical circulatory support at time of enrollment to this study
- Prior cardiac transplantation at time of enrollment to this study
- Female patients:
- Age >51 years at enrollment
Trial locations and contacts
16 sites in 7 countries. Contact the study team or a site near you to ask about taking part.
16 sites in 7 countries
United States9 sites, 9 recruiting
- Recruiting
University of Michigan
Ann Arbor, Michigan, 48109
Supriya Shore, shores@med.umich.edu
Supriya Shore, MD
- Recruiting
Children's Hospital Colorado
Aurora, Colorado, 80045
Matthew Taylor, MD, PhD, (720) 848-1030, matthew.taylor@uchsc.edu
Matthew Taylor, MD
- Recruiting
University of Texas, Southwestern
Dallas, Texas, 75235
Nathanya Baez Hernandez, MD, nathanya.baezhernandez@utsouthwestern.edu
Nathanya Baez Hernandez, MD
- Recruiting
University of Florida College of Medicine
Gainesville, Florida, 32610
Mohammed M Ahmed, MD, (352) 273-7770, Mustafa.Ahmed@medicine.ufl.edu
Mohammed M Ahmed, MD
- Recruiting
Texas Children's Hospital
Houston, Texas, 77030
Kyle Hope, MD, (832) 822-4280, kyle.hope@bcm.edu
David Garuba, 8328265622, odgaruba@texaschildrens.org
- Recruiting
University of California, San Diego
La Jolla, California, 92037
Kim Hong, MD, (858) 246-2996, knhong@health.ucsd.edu
Kimberly Hong, MD
- Recruiting
Columbia University Medical Center/New York Presbyterian
New York, New York, 10032
Farhana Latif, (212) 305-3172, fl2203@cumc.columbia.edu
Farhana Latif, MD
- Recruiting
Phoenix Children's Hospital
Phoenix, Arizona, 85016
Andrew Papez, MD, (602) 546-0512, apapez@phoenixchildrens.com
Sanjana Khanna, 6029334482, skhanna1@phoenixchildrens.com
- Recruiting
Washington University
St Louis, Missouri, 63110
Charles Canter, MD, 314-286-2404, canter@wustl.edu
Teresa Roberson, 314-302-7209, t.roberson@wustl.edu
Spain2 sites, 2 recruiting
- Recruiting
Sant Joan de Déu Hospital
Barcelona, 08950
Georgia Sarquella Brugada, MD, georgia.sarquella@sjd.es
Georgia Brugada, MD
- Recruiting
Hospital Universitario Puerta de Hierro Majadahonda
Majadahonda, Madrid
Pablo Garcia-Pavia, pablogpavia@yahoo.es
Pavia Garcia, MD
Australia1 site, 1 recruiting
- Recruiting
Monash Health
Clayton, Victoria, 3168
Ari Horton, MD, +61403048036, ari.horton@monashhealth.org
Ari Horton, MD
Germany1 site, 1 recruiting
- Recruiting
German Heart Center Munich
München
Cordula Wolf, MD, +498912182877, wolf@dhm.mhn.de
Cordula Wolf, MD
Israel1 site, 1 recruiting
- Recruiting
Sheba Medical Center
Ramat Gan, 5265601
Yair Anikster, PhD, +97235305018, yair.anikster@sheba.health.gov.il
Yair Anikster, MD
Italy1 site, 1 recruiting
- Recruiting
Azienda Ospedaliera Universitaria Meyer IRCCS
Florence, 50139
Iacopo Olivotto, PhD, +39557945138, Iacopo.olivotto@unifi.it
Iacopo Olivotto, MD
United Kingdom1 site, 1 recruiting
- Recruiting
University College London - Great Ormond Street Institute of Child Health
London, WC1N 1DZ
Juan Kaski, MD, +4402074059200, j.kaski@ucl.ac.uk
Juan Kaski, MD
About this study
Official title: An Observational Study of Genetic Cardiomyopathy, Danon Disease
The goal of this international observational study is to learn about the natural history of Danon disease in male patients (≥8 years of age) and female patients (8 to 50 years of age).
Read the detailed description
This is an international observational study with both retrospective and prospective data collection. The study is designed to describe the natural history of Danon disease, a rare X-linked genetic disorder, and one of the most severe and penetrant forms of inherited cardiomyopathy. This study will collect data about the clinical course of Danon disease, including signs and symptoms, key clinical events, and the impact of the disease on quality of life as managed with the current standard of care. A hybrid (retrospective and prospective data collection) approach is being used to generate robust and longitudinal data. A subset of patients will be used as an External Control Arm for comparison to RP-A501 Trial participants.
- Conditions
- Danon Disease
- Being tested
- No intervention
- Keywords
- Danon Disease, LAMP2, Lysosome-associated membrane protein 2, Cardiomyopathy, X-linked
- Medical subject headings
- Glycogen Storage Disease Type IIb, Cardiomyopathies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventionOther
No intervention
| Study group | Role | What they receive |
|---|---|---|
| Prospective Cohort | Not described Receives: Other: No intervention | |
| Retrospective Cohort | Not described Receives: Other: No intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
Left Ventricular Mass Index (LVMI) by echocardiogram
Evaluation of change over duration of follow up
Measured: Month 12, 24, 36
Secondary outcomes (16)
Cardiac biomarkers (hsTnI)
Evaluation of change over duration of follow up
Measured: Month 12, 24, 36 (when available)
Cardiac biomarkers (NT-proBNP, BNP)
Evaluation of change over duration of follow up
Measured: Month 12, 24, 36 (when available)
NYHA class
Evaluation of change over duration of follow up
Measured: Month 12, 24, 36
KCCQ-12
Evaluation of change over duration of follow up
Measured: Month 12, 24, 36
PedsQL
Evaluation of change over duration of follow up
Measured: Month 12, 24, 36
Event free survival with events defined as death, heart transplant, mechanical circulatory support (MCS) or heart failure hospitalization
Evaluation over duration of follow up
Measured: Month 12, 24, 36
Six Minute Walk Test
This test measures the distance that a subject can quickly walk on a flat, hard surface in a period of 6 minutes.
Measured: Month 12, 24, 36
CBC
CBC with differential
Measured: At enrollment
Serum Chemistry
Electrolytes
Measured: At enrollment
ECG
Twelve-lead ECGs are relevant to describe changes in cardiac rhythm that may further contextualize the clinical events/endpointsevents/endpoints
Measured: Month 12, 24, 36
Serum chemistry
Creatinine
Measured: At enrollment
Serum chemistry
LDH
Measured: At enrollment
Serum chemistry
BUN
Measured: At enrollment
Serum chemistry
eGFR
Measured: At enrollment
Serum chemistry
LFT
Measured: At enrollment
Anti-AAV9 titer
Change in antibody assay findings over time
Measured: Month 12, 24, 36
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Jan 2024
- Study start20 Dec 2023
- Primary completionDec 2029 (estimated)
- Study completionMar 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Danon DiseaseStudies of the same condition, open and under way.
- 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
- Prospective
- Enrolment
- 60 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Rocket Pharmaceuticals Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06214507
- Sponsor's protocol ID
- RP-NI-A501-0223
- Other IDs
- LAMPLIGHT-NH
- Status last verified
- Oct 2026
- First submitted
- 17 Nov 2023
- Last updated
- 19 Oct 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Observational Study of Genetic Cardiomyopathy, Danon Disease
- ClinicalTrials.gov ID
- NCT06214507
- Acronym / sponsor ID
- RP-NI-A501-0223
- Conditions
- Danon Disease
- Keywords
- Danon Disease, LAMP2, Lysosome-associated membrane protein 2, Cardiomyopathy, X-linked
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- Rocket Pharmaceuticals Inc.Industry (pharma, biotech, devices)
- Study start
- 20 Dec 2023 (actual)
- Primary completion
- Dec 2029 (estimated)
- Study completion
- Mar 2030 (estimated)
- First posted
- 19 Jan 2024 (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.
The goal of this international observational study is to learn about the natural history of Danon disease in male patients (≥8 years of age) and female patients (8 to 50 years of age).
Detailed description
This is an international observational study with both retrospective and prospective data collection. The study is designed to describe the natural history of Danon disease, a rare X-linked genetic disorder, and one of the most severe and penetrant forms of inherited cardiomyopathy. This study will collect data about the clinical course of Danon disease, including signs and symptoms, key clinical events, and the impact of the disease on quality of life as managed with the current standard of care. A hybrid (retrospective and prospective data collection) approach is being used to generate robust and longitudinal data. A subset of patients will be used as an External Control Arm for comparison to RP-A501 Trial participants.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Prospective Cohort | – | Other: No intervention |
| Retrospective Cohort | – | Other: No intervention |
Who may qualify
- Ages
- 8 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Male patients 8 years of age and over, Female patients 8 to 50 years of age (at the point of enrollment) with confirmed Danon disease recruited from a range of applicable care settings.
Key inclusion criteria (0 listed)
Key exclusion criteria (8 listed)
- Concurrent enrollment in any other clinical investigation involving use of an investigational agent for any condition at time of enrollment to this study that could confound interpretation of this study
- Previous treatment with a gene therapy
- Prior mechanical circulatory support at time of enrollment to this study
- Prior cardiac transplantation at time of enrollment to this study
- Age >51 years at enrollment
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No interventionNo intervention | Other | Prospective Cohort, Retrospective Cohort |
Primary outcome
Left Ventricular Mass Index (LVMI) by echocardiogram
Time frame: Month 12, 24, 36
Evaluation of change over duration of follow up
16 secondary outcomes
Cardiac biomarkers (hsTnI)
Time frame: Month 12, 24, 36 (when available)
Cardiac biomarkers (NT-proBNP, BNP)
Time frame: Month 12, 24, 36 (when available)
NYHA class
Time frame: Month 12, 24, 36
KCCQ-12
Time frame: Month 12, 24, 36
PedsQL
Time frame: Month 12, 24, 36
Event free survival with events defined as death, heart transplant, mechanical circulatory support (MCS) or heart failure hospitalization
Time frame: Month 12, 24, 36
Six Minute Walk Test
Time frame: Month 12, 24, 36
CBC
Time frame: At enrollment
Serum Chemistry
Time frame: At enrollment
ECG
Time frame: Month 12, 24, 36
Serum chemistry
Time frame: At enrollment
Serum chemistry
Time frame: At enrollment
Serum chemistry
Time frame: At enrollment
Serum chemistry
Time frame: At enrollment
Serum chemistry
Time frame: At enrollment
Anti-AAV9 titer
Time frame: Month 12, 24, 36
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Oct 2026.
Related trials for Danon Disease
RecruitingPhase 2
A Gene Therapy Study of RP-A501 in Male Patients With Danon Disease
Danon Disease
RecruitingObservational study
Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques
Danon Disease, Fabry Disease
RecruitingObservational study
Rare Glycogen Storage Diseases Natural History Study
Glycogen Storage Disease, GSD Type 0A
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.
16 sites in 7 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Danon Disease, run by Rocket Pharmaceuticals Inc. at 16 sites in 7 countries.
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 0 inclusion and 8 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: looking for participants now, as of the sponsor's last update on 19 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 16 sites in United States, Spain, Australia, Germany, Israel and 2 more countries. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Clinical Information (646-627-0033, clinicaltrials@rocketpharma.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Left Ventricular Mass Index (LVMI) by echocardiogram (time frame: Month 12, 24, 36). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 19 Oct 2026.