New study tracks rare heart disease to pave way for future treatments
NCT ID NCT06214507
First seen Jun 27, 2026 · Last updated Jul 29, 2026 · Updated 4 times
Summary
This study follows 60 people with Danon disease, a rare genetic heart condition, to learn how it progresses over time. Researchers will monitor heart function and symptoms in males aged 8 and older and females aged 8 to 50. The goal is to gather natural history data that could support the development of new therapies.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this study could provide crucial data to help design future treatments for Danon disease.
- What could go wrong
- This is an observational study, not a treatment trial, so it won't directly help participants. It may not lead to immediate breakthroughs.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 60 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Dec 2023
- Expected to finish
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Mar 2030
An estimate. End dates often move.
- Lead sponsor
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A company
The lead sponsor is a pharmaceutical, biotech, or medical-device company.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
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.
- Ages
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8 years and older
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Prospective Cohort: 1. Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene by a CLIA-certified genetic testing laboratory 2. Patient or parent/legal guardian are capable and willing to provide signed informed consent 3. Age ≥ 8 years at enrollment Female Prospective Cohort: 4. Evidence of left ventricular hypertrophy in the 12 months prior to or at enrollment. Retrospective (only) Cohort: 5. Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene by a CLIA-certified genetic testing laboratory 6. Patient or parent/legal guardian are capable and willing to provide signed informed consent, as required by local regulations 7. Age ≥ 8 years at enrollment 8. Prior cardiac transplantation or prior mechanical circulatory support 9. At least 30 days of retrospective medical records available prior to cardiac transplantation or mechanical circulatory support Female Retrospective (only) Cohort: 10. Prior evidence of left ventricular hypertrophy. Key Exclusion Criteria: All Cohorts: 1. 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 2. Previous treatment with a gene therapy Prospective Cohort: 3. Prior mechanical circulatory support at time of enrollment to this study 4. Prior cardiac transplantation at time of enrollment to this study Female patients: 5. Age \>51 years at enrollment
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
15 sites in 6 countries. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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Azienda Ospedaliera Universitaria Meyer IRCCS
RECRUITINGFlorence, 50139, Italy
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Children's Hospital Colorado
RECRUITINGAurora, Colorado, 80045, United States
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Columbia University Medical Center/New York Presbyterian
RECRUITINGNew York, New York, 10032, United States
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German Heart Center Munich
RECRUITINGMünchen, Germany
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Hospital Universitario Puerta de Hierro Majadahonda
RECRUITINGMajadahonda, Madrid, Spain
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Phoenix Children's Hospital
RECRUITINGPhoenix, Arizona, 85016, United States
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Sant Joan de Déu Hospital
RECRUITINGBarcelona, 08950, Spain
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Sheba Medical Center
RECRUITINGRamat Gan, 5265601, Israel
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Texas Children's Hospital
RECRUITINGHouston, Texas, 77030, United States
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University College London - Great Ormond Street Institute of Child Health
RECRUITINGLondon, WC1N 1DZ, United Kingdom
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University of California, San Diego
RECRUITINGLa Jolla, California, 92037, United States
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University of Florida College of Medicine
RECRUITINGGainesville, Florida, 32610, United States
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University of Michigan
RECRUITINGAnn Arbor, Michigan, 48109, United States
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University of Texas, Southwestern
RECRUITINGDallas, Texas, 75235, United States
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Washington University
RECRUITINGSt Louis, Missouri, 63110, United States
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