PROPEL - A Prospective Observational Patient Registry to Evaluate ENPP1 and ABCC6 Deficiency
This study, called PROPEL, is looking into two rare genetic conditions: ENPP1 Deficiency and an early-onset form of ABCC6 Deficiency. It's a long-term observational study, meaning researchers will collect information from people during their regular doctor's visits rather than testing new treatments. The goal is to build a clearer picture of how these diseases progress and impact individuals. They'll look at things like genetic details, blood tests, X-rays, and how people feel in their daily lives. By understanding these conditions better, scientists hope to learn more about their effects, from initial symptoms to how they change over time. This information is crucial for developing better ways to manage and treat these rare conditions in the future.
At a glance
What is this study about?
This study, called PROPEL, is designed to learn more about two very rare genetic conditions: ENPP1 Deficiency and an early-onset form of ABCC6 Deficiency. When we say 'genetic conditions,' it means they are caused by changes in a person's genes, which are the instructions inside our bodies. Both conditions can cause health problems affecting bones, blood vessels, and other parts of the body.
For people with ENPP1 Deficiency, especially babies, it can be very serious. In children, it can lead to a bone condition called rickets, which causes soft and weak bones. Adults might experience softened bones (osteomalacia), hearing problems, hardened arteries, and issues with their heart or brain. Early-onset ABCC6 Deficiency can look very similar to the severe form of ENPP1 Deficiency in babies and can also lead to problems with blood vessels in the brain.
This study is 'observational,' which means participants won't receive any new medications or treatments as part of the study. Instead, researchers will collect information during your regular doctor's appointments. They'll look at existing medical records, including results from blood tests, X-rays, and scans, as well as asking about your symptoms and how you're feeling. The aim is to understand how these conditions develop and change over time in real-life situations, helping doctors and scientists gain a complete picture of what it's like to live with these diseases.
Key takeaways
- This study is about understanding rare genetic conditions: ENPP1 Deficiency and early-onset ABCC6 Deficiency.
- It's an 'observational' study, meaning no new treatments or medicines are given.
- Information will be collected from your existing medical records and routine doctor's visits.
- Your participation helps doctors learn more about how these rare conditions affect people over time.
- This knowledge is important for developing better ways to help patients in the future.
Who may be eligible?
To be part of this study, you or your child must have one of these conditions and agree to share your medical information. This means you need to or your legal guardian needs to give written permission after fully understanding what the study involves. You also need to agree to let the study team look at your relevant medical records.
Specifically, you might be able to join if you have a confirmed genetic diagnosis of ENPP1 Deficiency with two faulty copies of the gene, or one faulty copy along with certain health problems like multiple fractures, low bone density, ongoing bone pain, early heart issues, rickets, or a specific spinal condition. If you have an early-onset form of ABCC6 Deficiency (and are under 18 years old) with two faulty copies of the gene, you could also be eligible. The genetic tests must have been done by an approved laboratory.
However, you cannot join if you are unable to give your consent or if you are already taking part in another specific clinical study called INZ-701. Researchers want to ensure that all participants can understand and agree to the study requirements.
Could this study suit you?
Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.
- Have you or your child been diagnosed with ENPP1 Deficiency or early-onset ABCC6 Deficiency by a specialist?
- Are you able to provide written consent to participate?
- Are you willing to let the study team access your relevant medical records?
- If you have ENPP1 Deficiency, do you have two faulty gene copies, or one faulty copy with specific symptoms (like multiple fractures or early heart problems)?
- If you have ABCC6 Deficiency, are you under 18 years old with two faulty gene copies?
- Are you NOT currently part of another clinical study called INZ-701?
What does participation involve?
If you decide to take part in this registry, it will involve two main periods: a Screening Period and an Observational Period. During the Screening Period, the study team will collect information about your past medical history and current health from your existing medical records when you first join.
After that, during the Observational Period, the study team will continue to gather information from your routine, standard-of-care doctor's visits. This means you won't have extra study appointments; the information will come from the tests and check-ups you already have as part of your usual care. This might include results from blood tests, X-rays or scans of your bones and blood vessels, and assessments of your general health and how well you can do daily activities. You might also be asked to share how you're feeling through questionnaires. There are no study medications or interventions; it's purely about collecting information over time during your regular medical care.
Potential risks and benefits
Locations (14)
- Ann and Robert H. Lurie Children's HospitalVerified postcodeChicago, United States· Recruiting
- Boston Children's HospitalVerified postcodeBoston, United States· Recruiting
- Mayo ClinicVerified postcodeRochester, United States· Recruiting
- CLINILABS Drug Development CorpVerified postcodeEatontown, United States· Recruiting
- The Children's Hospital of Philadelphia (CHOP)Verified postcodePhiladelphia, United States· Recruiting
- CHU Sainte-Justine Research CentreVerified postcodeMontreal, Canada· Recruiting
- Universitätsklinikum Hamburg-EppendorfVerified postcodeHamburg, Germany· Recruiting
- IRCCS San Raffaele Hospital - MainVerified postcodeMilan, Italy· Recruiting
- The University of Tokyo HospitalVerified postcodeTokyo, Japan· Recruiting
- Royal Hospital MuscatVerified postcodeMuscat, Oman· Recruiting
- EU Hub - VCTCVerified postcodeBarcelona, Spain· Recruiting
- Hospital Sant Joan de DeuVerified postcodeBarcelona, Spain· Recruiting
Common questions
What is an 'observational study'?
An observational study means doctors will collect information from your regular medical appointments and existing records. You won't receive any new treatments or procedures as part of the study.
Will I have to take any new medicines?
No, this study does not involve any new medicines or treatments. You will continue with your usual medical care.
How long will I be in the study?
The study aims to follow participants over a period of time, collecting information from their ongoing, routine medical care to understand the conditions over time. The exact duration will depend on the study design.
Will my doctors change my treatment if I join?
No, your medical treatment will not change because you are in the study. Your doctors will continue to provide the best care for you based on your needs.
Will my personal data be kept private?
Yes, all your personal and medical information collected for the study will be handled with strict confidentiality, following ethical and legal guidelines.
How to find out more
Jelena Garafalo, Ph.D
Always speak to your GP or specialist before deciding to take part in a study.
Interested in taking part?
Discussion
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