Understanding the Spectrum of ENPP1 Deficiency and Acute ABCC6 Deficiency (NCT04372446) | Clinical Trial Compass
CompletedNot Applicable
Understanding the Spectrum of ENPP1 Deficiency and Acute ABCC6 Deficiency
United States38 participantsStarted 2020-05-06
Plain-language summary
To date, the investigators lack characterization of, the burden of, and the systemic progression of disease in ENPP1 deficiency and ABCC6 deficiency from a patient and/or parent perspective. This study aims to document this characterization, progression as well as the burden of disease. Link to the study registration-
https://www.engagehealth.com/survey/TakeSurvey.aspx?SurveyID=8252n62
Who can participate
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion criteria
. Participant must be a person with ENPP1 deficiency or the acute infantile form of ABCC6 deficiency who is 18 years or older
. The parent/caregiver of a patient who has been diagnosed with ENPP1 deficiency or the acute infantile form of ABCC6 deficiency. Please note, parents/caregivers of patients with ENPP1 deficiency who have passed away may participate
. Confirmed diagnosis of ENPP1 deficiency or ABCC6 deficiency with written proof of disease provided
. Ability to participate in the RSVP and interview in German, French or English, irrespective of country of residence.
. Able to grant informed consent
. Willing to participate in a 40-to-60-minute telephone interview, including follow up questions (if necessary)
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
To improve the understanding of the characterization and burden of disease in ENPP1 deficient, and acute ABCC6 deficient, patients who are still growing and those who are done growing
Timeframe: Data will be collected during a 45 minute interview. This will be a patient or parent report of events that occurred from birth to the patient's current age which will differ for all respondents.
2
To collect information regarding disease burden, in the patient's / families own terms
Timeframe: Data will be collected during a 45 minute interview. This will be a patient or parent report of events that occurred from birth to the patient's current age which will differ for all respondents.
3
To build a foundation of evidence to contribute to the dossier, used for many purposes, including reimbursement and regulatory bodies.
Timeframe: Data will be collected during a 45 minute interview. This will be a patient or parent report of events that occurred from birth to the patient's current age which will differ for all respondents.