Danon DiseaseNCT05548855
Natural History of Danon Disease
An observational study of Danon Disease, run by Rocket Pharmaceuticals Inc. at 15 sites in 5 countries.
Trial summary
This is a multicenter, international, non-interventional, natural history study designed to collect longitudinal retrospective clinical information on patients with Danon disease (DD). Read more about this study
- Who is it for?
- Ages 6 years and older
- Conditions the study is for
- Danon Disease
- What is being tested?
- Heart Transplant and Cardiac Assistive Device
- Type of treatment
- Medical device, Surgery or procedure
- How many people
- 59 participants
- Where
- 15 sitesin 5 countries
- Study dates
- 26 Sep 2022to 31 Oct 2023
- 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 6 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Female and male patients with confirmed diagnosis of Danon disease based on a genetic test positive for a mutation in LAMP2
Who may be able to join
- Patients older than 6 years old and any sex.
- Patients with a confirmed genetic mutation in LAMP2. 3a. Living patients (who have not undergone heart transplantation or placement of a cardiac assist device):
- A minimum of 6 months of longitudinal data, including at least 2 echocardiograms or MRIs at least 6 months apart, prior to most recent follow-up visit or enrollment in Sponsor's gene therapy clinical trial.
- 3b. Deceased patients or living patients who underwent heart transplantation or cardiac assist device placement:
- At least 1 echocardiogram or MRI assessment prior to heart transplantation/ cardiac assist device placement or death
- 4. Informed consent/assent by the patient and/or their legally authorized representative (if the patient is living at the time of enrollment).
Who cannot join
- 1. Diagnosis of Danon disease without genetic testing confirmation.
Trial locations and contacts
15 sites in 5 countries.
15 sites in 5 countries
Spain7 sites
Hospital Clínic de Barcelona - Barnaclínic+
Barcelona, 08907
Hospital Universitario de Bellvitge- Bellvitge University Hospital
Barcelona, 08907
Hospital Universitario La Paz - La Paz University Hospital
Madrid, 28046
Hospital Universitario Puerta de Hierro Majadahonda Puerta de Hierro Majadahonda - University Hospital
Madrid, 28222
Hospital Universitario Virgen de la Victoria- Virgen de la Victoria University Hosptial
Málaga, 29010
Hospital Álvaro Cunqueiro
Pontevedra, 326312
Hospital Universitario y Politécnico La Fe, Instituto De Investigación Sanitaria La Fe, La Fe University and Polytechnic Hospital
Valencia, 46026
France3 sites
CHU de Nantes, Hôpital Laennec
Nantes, 44800
APHP, Hôpital de la Pitié Salppêtrière - Charles Foix
Paris, 75013
CHU de Rennes, Hôpital Pontchaïllou
Rennes, 35033
Italy3 sites
Ospedale Papa Giovanni XXIII di Bergamo ASST Pap Giovanni XXIII Hospital
Bergamo, 24127
University of Florence Dept. of Experimental and Clinical Medicine
Florence, 50134
IRCCS Burlo Garogolo- Hospital Burlo Garofolo
Trieste, 34137
Czechia1 site
Institut klinické a experimentální medicíny (IKEM)- Institute for Clinical and Experimental Medicine
Prague, 14021
About this study
Official title: A Retrospective, Multicenter, International Study to Characterize the 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 (DD). This study is composed of 2 parts:
- Feasibility study: to identify participating sites, assess site and team capabilities, confirm the site and investigator qualification for taking part in the study,
- Retrospective chart review: Data will be collected retrospectively by means of a chart review of living and/or deceased DD patients with a confirmed lysosome associated membrane protein-2 gene (LAMP2) mutation, and,
- For living patients (who have not undergone heart transplantation or placement of a cardiac assist device), availability of at least 6-month cardiology follow-up data,
- For living patients who underwent heart transplantation or placement of a cardiac assist device, and for deceased patients, at least 1 MRI or echo assessment prior to heart transplantation/cardiac assist device placement or death.
Read the detailed description
Danon disease (DD) is a rare X-linked dominant genetic disorder characterized by cardiomyopathy, skeletal myopathy, and neurocognitive deficits. The disease is caused by a mutation in the lysosome associated membrane protein-2 gene (LAMP2). LAMP2 functions as a lysosomal membrane receptor in autophagy. Most men and many women with LAMP2 gene mutations will develop cardiac disease that includes hypertrophic cardiomyopathy and/or dilated cardiomyopathy, cardiac pre-excitation syndrome, and a propensity for arrhythmias. The prognosis is directly related to the severity of the cardiac disease, and many patients will die from sudden cardiac death. Males are typically more severely affected than females.
There is currently no therapy available to cure, or even prevent disease progression. DD treatment is thus primarily supportive therapy, and survival beyond 25 years without a cardiac transplantation is improbable for afflicted male patients.
Rocket Pharmaceuticals, a clinical-stage company advancing an integrated and sustainable pipeline of genetic therapies for rare pediatric disorders, is developing Rocket Pharmaceuticals Adeno-associated- vector-501 (RP-A501) (AAV9.LAMP2B), an investigational gene therapy product for DD and the first potential gene therapy for monogenic heart failure.
This retrospective, multicenter, international, longitudinal, non- interventional study of DD patients with confirmed LAMP2 mutation aims at characterizing the Natural History of disease in males and females. The Real-world data collected from patients in this natural history study will help support the overall development and protocol design of the RP-A501 gene therapy pivotal trial to be submitted to the health authorities.
Additionally, this study will allow identification of the core centers managing DD patients in several countries as well as the description of the disease characteristics, diagnosis pathway and disease progression. This will inform the development of patient profiles for future studies, including a potential prospective observational study to investigate the burden of disease among DD patients and an international patient registry for Danon disease.
The overarching goal of this retrospective, multicenter, international study is to gain a better understanding of the Natural History of Danon disease, by collecting de-identified information from patients with this condition treated.
Primary objective: Determine how specific cardiac manifestations in patients diagnosed with Danon disease change over time. Essential echocardiography and/or MRI-based parameters include: thickness of the Left Ventricular Posterior Wall at end-diastole (LVPWd); thickness of the Interventricular Septum at end-diastole (IVSd); Left Ventricular mass (LVmass); Left Ventricular Ejection Fraction (LVEF).
Secondary objectives: Describe the progression of other cardiac and extracardiac manifestations in patients diagnosed with Danon disease, including, but not limited to: serologic markers of heart failure, serologic markers of muscle injury, risk and frequency of arrhythmias, comprehensive echocardiogram and MRI-based assessments of cardiomyopathy, overall survival, and event-free survival (as defined subsequently).
Exploratory objectives:
- Describe the diagnostic pathway of Danon disease, therapeutic management and local centers' approaches to genetic testing for LAMP2 mutations.
- Identify key Natural History trends to inform a prospective European Union (EU) natural history study and plan for a potential gene therapy trial for DD patients in the EU.
- Conditions
- Danon Disease
- Being tested
- Heart Transplant, Cardiac Assistive Device
- Keywords
- Danon Disease, Observational
- 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.
Heart TransplantProcedure or surgery
Patients who have undergone a heart transplant as standard of care (SOC) procedure
Cardiac Assistive DeviceDevice
Patients who have undergone a placement of a cardiac assistive device
| Study group | Role | What they receive |
|---|---|---|
| Heart Transplant or Cardiac Assist Device | Female and male patients with confirmed diagnosis of Danon disease based on a genetic test positive for a mutation in LAMP2 For living patients who underwent heart transplantation or placement of a cardiac assist device, and for deceased patients, at least 1 MRI or echo assessment prior to heart transplantation/cardiac assist device placement or death. Receives: Procedure: Heart Transplant; Device: Cardiac Assistive Device | |
| No Intervention | Female and male patients with confirmed diagnosis of Danon disease based on a genetic test positive for a mutation in LAMP2 for living patients (who have not undergone heart transplantation or placement of a cardiac assist device), availability of at least 6-month cardiology follow-up data |
What is being measured
The primary outcome is the main question the study is designed to answer.
Cardiac Manifestations- LVPWd
Descriptive analysis will be conducted to characterize specific cardiac manifestations in patients diagnosed with Danon disease, and changes over time. Data collected will be analyzed by 6-month intervals and by the changes from initial evaluation over each 6-month interval. This includes the following cardiac parameters obtained from echocardiogram and/or MRI assessments: thickness of the left ventricular posterior wall end diastole and end systole (LVPWd).
Measured: Retrospective minimum of 6 months
Cardiac Manifestations- lVSd
Descriptive analysis will be conducted to characterize specific cardiac manifestations in patients diagnosed with Danon disease, and changes over time. Data collected will be analyzed by 6-month intervals and by the changes from initial evaluation over each 6-month interval. This includes the following cardiac parameters obtained from echocardiogram and/or MRI assessments including thickness of the left ventricular systolic dysfunction (IVSd).
Measured: Retrospective minimum of 6 months
Cardiac Manifestations- LVmass
Descriptive analysis will be conducted to characterize specific cardiac manifestations in patients diagnosed with Danon disease, and changes over time. Data collected will be analyzed by 6-month intervals and by the changes from initial evaluation over each 6-month interval. This includes the following cardiac parameters obtained from echocardiogram and/or MRI assessments including left ventricular mass (LVmass).
Measured: Retrospective minimum of 6 months
Cardiac Manifestations - LVEF
Descriptive analysis will be conducted to characterize specific cardiac manifestations in patients diagnosed with Danon disease, and changes over time. Data collected will be analyzed by 6-month intervals and by the changes from initial evaluation over each 6-month interval. This includes the following cardiac parameters obtained from echocardiogram and/or MRI assessments including left ventricular ejection fraction (LVEF).
Measured: Retrospective minimum of 6 months
Secondary outcomes (16)
Serologic Markers & Imaging - BNP
Mean values, standard deviations, medians and changes in means will be provided for serologic markers of heart failure which include B-type natriuretic peptide (BNP).
Measured: Retrospective minimum of 6 months
Serologic Markers & Imaging Pro-BNP
Mean values, standard deviations, medians and changes in means will be provided for serologic markers of heart failure which include Pro- B-type natriuretic peptide (Pro-BNP).
Measured: Retrospective minimum of 6 months
Serologic Markers & Imaging- CK-MB
Mean values, standard deviations, medians and changes in means will be provided for serologic markers of heart failure which include creatine kinase - MB (CK-MB).
Measured: Retrospective minimum of 6 months
Serologic Markers & Imaging- Troponin
Mean values, standard deviations, medians and changes in means will be provided for serologic markers of heart failure which include Troponin
Measured: Retrospective minimum of 6 months
Serologic Markers & Imaging- CPK
Mean values, standard deviations, medians and changes in means will be provided for serologic markers of muscle injury, which include creatine phosphokinase (CPK).
Measured: Retrospective minimum of 6 months
Serologic Markers & Imaging- transaminases
Mean values, standard deviations, medians and changes in means will be provided for serologic markers of muscle injury, which include transaminases
Measured: Retrospective minimum of 6 months
Serologic Markers & Imaging- Echo/MRI
Mean values, standard deviations, medians and changes in means will be provided for the echocardiogram- and MRI-based assessments of cardiomyopathy, which include measures of cardiac hypertrophy or dilation
Measured: Retrospective minimum of 6 months
Serologic Markers & Imaging- BP
Mean values, standard deviations, medians and changes in means will be provided for the echocardiogram- and MRI-based assessments of cardiomyopathy, which include measures of systolic and diastolic function
Measured: Retrospective minimum of 6 months
Serologic Markers & Imaging- GLS
Mean values, standard deviations, medians and changes in means will be provided for the echocardiogram- and MRI-based assessments of cardiomyopathy, which include measures of Global Longitudinal Strain (GLS)
Measured: Retrospective minimum of 6 months
Serologic Markers & Imaging- E/A
Mean values, standard deviations, medians and changes in means will be provided for the echocardiogram- and MRI-based assessments of cardiomyopathy, which include measures of mitral inflow ratio of the early (E) to late (A) (ventricular filling velocities (E/A))
Measured: Retrospective minimum of 6 months
Arrhythmias
Time to event (risk of arrhythmia), for each of the following: supraventricular arrhythmias and non-sustained ventricular arrhythmias on Holter or similar monitoring, treatment with anti-arrhythmic medications
Measured: Retrospective minimum of 6 months
Wolf-Parkinson-White syndrome
Time to event of Wolf-Parkinson-White syndrome (WPW) on electrocardiogram
Measured: Retrospective minimum of 6 months
ICD Placement
Time to event of Implantable cardioverter-defibrillators (ICD) placement
Measured: Retrospective minimum of 6 months
Reason for ICD Placement
Reasoning for ICD placement will be summarized by frequency of the reasons
Measured: Retrospective minimum of 6 months
Overall Survival
Overall survival will be analyzed using Kaplan-Meier estimates. Patients lost to follow-up or who complete the study will be censored at the last follow-up time.
Measured: Retrospective minimum of 6 months
Event-free survival
Event-free survival (EFS) will be analyzed using Kaplan-Meier estimates. EFS will be provided for Tier 1 events, Tier 1 + Tier 2 events, and Tier 1 + Tier 2 +Tier 3 events. Patients lost to follow-up or who complete the study will be censored at the last follow-up time.
Measured: Retrospective minimum of 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Sep 2022
- Study start26 Sep 2022
- Primary completion31 Oct 2023
- Study completion31 Oct 2023
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.
- More trials run by Rocket Pharmaceuticals Inc.The 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
- Retrospective
- Enrolment
- 59 participants (actual)
Sponsor and investigators
- Lead sponsor
- Rocket Pharmaceuticals Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05548855
- Sponsor's protocol ID
- RP-NI-A501-0122
- Status last verified
- Oct 2023
- First submitted
- 29 Jul 2022
- Last updated
- 21 Nov 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 21 Nov 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Retrospective, Multicenter, International Study to Characterize the Natural History of Danon Disease
- ClinicalTrials.gov ID
- NCT05548855
- Acronym / sponsor ID
- RP-NI-A501-0122
- Conditions
- Danon Disease
- Keywords
- Danon Disease, Observational
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 59 participants (actual)
- Lead sponsor
- Rocket Pharmaceuticals Inc.Industry (pharma, biotech, devices)
- Study start
- 26 Sep 2022 (actual)
- Primary completion
- 31 Oct 2023 (actual)
- Study completion
- 31 Oct 2023 (actual)
- First posted
- 22 Sep 2022 (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.
This is a multicenter, international, non-interventional, natural history study designed to collect longitudinal retrospective clinical information on patients with Danon disease (DD). This study is composed of 2 parts:
- Feasibility study: to identify participating sites, assess site and team capabilities, confirm the site and investigator qualification for taking part in the study,
- Retrospective chart review: Data will be collected retrospectively by means of a chart review of living and/or deceased DD patients with a confirmed lysosome associated membrane protein-2 gene (LAMP2) mutation, and,
- For living patients (who have not undergone heart transplantation or placement of a cardiac assist device), availability of at least 6-month cardiology follow-up data,
- For living patients who underwent heart transplantation or placement of a cardiac assist device, and for deceased patients, at least 1 MRI or echo assessment prior to heart transplantation/cardiac assist device placement or death.
Detailed description
Danon disease (DD) is a rare X-linked dominant genetic disorder characterized by cardiomyopathy, skeletal myopathy, and neurocognitive deficits. The disease is caused by a mutation in the lysosome associated membrane protein-2 gene (LAMP2). LAMP2 functions as a lysosomal membrane receptor in autophagy. Most men and many women with LAMP2 gene mutations will develop cardiac disease that includes hypertrophic cardiomyopathy and/or dilated cardiomyopathy, cardiac pre-excitation syndrome, and a propensity for arrhythmias. The prognosis is directly related to the severity of the cardiac disease, and many patients will die from sudden cardiac death. Males are typically more severely affected than females.
There is currently no therapy available to cure, or even prevent disease progression. DD treatment is thus primarily supportive therapy, and survival beyond 25 years without a cardiac transplantation is improbable for afflicted male patients.
Rocket Pharmaceuticals, a clinical-stage company advancing an integrated and sustainable pipeline of genetic therapies for rare pediatric disorders, is developing Rocket Pharmaceuticals Adeno-associated- vector-501 (RP-A501) (AAV9.LAMP2B), an investigational gene therapy product for DD and the first potential gene therapy for monogenic heart failure.
This retrospective, multicenter, international, longitudinal, non- interventional study of DD patients with confirmed LAMP2 mutation aims at characterizing the Natural History of disease in males and females. The Real-world data collected from patients in this natural history study will help support the overall development and protocol design of the RP-A501 gene therapy pivotal trial to be submitted to the health authorities.
Additionally, this study will allow identification of the core centers managing DD patients in several countries as well as the description of the disease characteristics, diagnosis pathway and disease progression. This will inform the development of patient profiles for future studies, including a potential prospective observational study to investigate the burden of disease among DD patients and an international patient registry for Danon disease.
The overarching goal of this retrospective, multicenter, international study is to gain a better understanding of the Natural History of Danon disease, by collecting de-identified information from patients with this condition treated.
Primary objective: Determine how specific cardiac manifestations in patients diagnosed with Danon disease change over time. Essential echocardiography and/or MRI-based parameters include: thickness of the Left Ventricular Posterior Wall at end-diastole (LVPWd); thickness of the Interventricular Septum at end-diastole (IVSd); Left Ventricular mass (LVmass); Left Ventricular Ejection Fraction (LVEF).
Secondary objectives: Describe the progression of other cardiac and extracardiac manifestations in patients diagnosed with Danon disease, including, but not limited to: serologic markers of heart failure, serologic markers of muscle injury, risk and frequency of arrhythmias, comprehensive echocardiogram and MRI-based assessments of cardiomyopathy, overall survival, and event-free survival (as defined subsequently).
Exploratory objectives:
- Describe the diagnostic pathway of Danon disease, therapeutic management and local centers' approaches to genetic testing for LAMP2 mutations.
- Identify key Natural History trends to inform a prospective European Union (EU) natural history study and plan for a potential gene therapy trial for DD patients in the EU.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Heart Transplant or Cardiac Assist Device | – | Procedure: Heart Transplant, Device: Cardiac Assistive DeviceFemale and male patients with confirmed diagnosis of Danon disease based on a genetic test positive for a mutation in LAMP2 For living patients who underwent heart transplantation or placement of a cardiac assist device, and for deceased patients, at least 1 MRI or echo assessment prior to heart transplantation/cardiac assist device placement or death. |
| No Intervention | – | –Female and male patients with confirmed diagnosis of Danon disease based on a genetic test positive for a mutation in LAMP2 for living patients (who have not undergone heart transplantation or placement of a cardiac assist device), availability of at least 6-month cardiology follow-up data |
Who may qualify
- Ages
- 6 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Female and male patients with confirmed diagnosis of Danon disease based on a genetic test positive for a mutation in LAMP2
Key inclusion criteria (6 listed)
- Patients older than 6 years old and any sex.
- Patients with a confirmed genetic mutation in LAMP2. 3a. Living patients (who have not undergone heart transplantation or placement of a cardiac assist device):
- 3b. Deceased patients or living patients who underwent heart transplantation or cardiac assist device placement:
- 4. Informed consent/assent by the patient and/or their legally authorized representative (if the patient is living at the time of enrollment).
Key exclusion criteria (1 listed)
- 1. Diagnosis of Danon disease without genetic testing confirmation.
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 |
|---|---|---|
| Heart TransplantPatients who have undergone a heart transplant as standard of care (SOC) procedure | Procedure or surgery | Heart Transplant or Cardiac Assist Device |
| Cardiac Assistive DevicePatients who have undergone a placement of a cardiac assistive device | Device | Heart Transplant or Cardiac Assist Device |
Primary outcome
Cardiac Manifestations- LVPWd
Time frame: Retrospective minimum of 6 months
Descriptive analysis will be conducted to characterize specific cardiac manifestations in patients diagnosed with Danon disease, and changes over time. Data collected will be analyzed by 6-month intervals and by the changes from initial evaluation over each 6-month interval. This includes the following cardiac parameters obtained from echocardiogram and/or MRI assessments: thickness of the left ventricular posterior wall end diastole and end systole (LVPWd).
Cardiac Manifestations- lVSd
Time frame: Retrospective minimum of 6 months
Descriptive analysis will be conducted to characterize specific cardiac manifestations in patients diagnosed with Danon disease, and changes over time. Data collected will be analyzed by 6-month intervals and by the changes from initial evaluation over each 6-month interval. This includes the following cardiac parameters obtained from echocardiogram and/or MRI assessments including thickness of the left ventricular systolic dysfunction (IVSd).
Cardiac Manifestations- LVmass
Time frame: Retrospective minimum of 6 months
Descriptive analysis will be conducted to characterize specific cardiac manifestations in patients diagnosed with Danon disease, and changes over time. Data collected will be analyzed by 6-month intervals and by the changes from initial evaluation over each 6-month interval. This includes the following cardiac parameters obtained from echocardiogram and/or MRI assessments including left ventricular mass (LVmass).
Cardiac Manifestations - LVEF
Time frame: Retrospective minimum of 6 months
Descriptive analysis will be conducted to characterize specific cardiac manifestations in patients diagnosed with Danon disease, and changes over time. Data collected will be analyzed by 6-month intervals and by the changes from initial evaluation over each 6-month interval. This includes the following cardiac parameters obtained from echocardiogram and/or MRI assessments including left ventricular ejection fraction (LVEF).
16 secondary outcomes
Serologic Markers & Imaging - BNP
Time frame: Retrospective minimum of 6 months
Serologic Markers & Imaging Pro-BNP
Time frame: Retrospective minimum of 6 months
Serologic Markers & Imaging- CK-MB
Time frame: Retrospective minimum of 6 months
Serologic Markers & Imaging- Troponin
Time frame: Retrospective minimum of 6 months
Serologic Markers & Imaging- CPK
Time frame: Retrospective minimum of 6 months
Serologic Markers & Imaging- transaminases
Time frame: Retrospective minimum of 6 months
Serologic Markers & Imaging- Echo/MRI
Time frame: Retrospective minimum of 6 months
Serologic Markers & Imaging- BP
Time frame: Retrospective minimum of 6 months
Serologic Markers & Imaging- GLS
Time frame: Retrospective minimum of 6 months
Serologic Markers & Imaging- E/A
Time frame: Retrospective minimum of 6 months
Arrhythmias
Time frame: Retrospective minimum of 6 months
Wolf-Parkinson-White syndrome
Time frame: Retrospective minimum of 6 months
ICD Placement
Time frame: Retrospective minimum of 6 months
Reason for ICD Placement
Time frame: Retrospective minimum of 6 months
Overall Survival
Time frame: Retrospective minimum of 6 months
Event-free survival
Time frame: Retrospective minimum of 6 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Nov 2023.
- Glycogen Storage Disease type IXLink provided by the sponsor.
- Danon DiseaseLink provided by the sponsor.
- Danon DiseaseLink provided by the sponsor.
- 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.
The record lists no contact. Use the official record to reach the sponsor.
15 sites in 5 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 15 sites in 5 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 6 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: finished, as of the sponsor's last update on 21 Nov 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 15 sites in Spain, France, Italy, Czechia, Ireland. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Cardiac Manifestations- LVPWd (time frame: Retrospective minimum of 6 months). The study lists 4 primary outcomes in all. 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 21 Nov 2023.