RecruitingOBSERVATIONAL

Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)

This study is about a group of rare genetic conditions called Peroxisome Biogenesis Disorders (PBD). These conditions happen when tiny parts of your cells, called peroxisomes, don't work properly, leading to various health problems. Doctors don't fully understand how these conditions develop or how they affect people differently. Researchers want to learn more by following patients with PBD over time. They will collect medical information, like test results and scans, that are already part of a patient's routine care. This will help them understand the conditions better, find ways to improve treatment, and set standards for the best possible care for people living with PBD.

At a glance

Status

Recruiting

Sponsor

McGill University Health Centre/Research Institute of the McGill University Health Centre

Enrolment target

244

Start

01 Jan 2012

Estimated completion

01 Jan 2031

Peroxisome Biogenesis Disorder Zellweger Spectrum Disorder RCDP - Rhizomelic Chondrodysplasia Punctata D-Bifunctional Protein Deficiency Alpha-Methylacyl-CoA Racemase Deficiency Peroxisomal Acyl-CoA Oxidase Deficiency Peroxisomal Acyl-CoA Oxidase 2 Deficiency ATP Binding Cassette Subfamily D Member 3 Gene Mutation ACBD5 (AcylCoA Binding Domain 5) Deficiency Adult Refsum Disease Sterol Carrier Protein 2 Deficiency

What is this study about?

This study is focused on a group of very rare genetic conditions known as Peroxisome Biogenesis Disorders (PBD). These conditions occur when specific parts within your body's cells, called peroxisomes, don't form or function correctly. Peroxisomes are vital for many processes, like breaking down certain fats and removing toxins, so problems with them can lead to a wide range of health issues.

Because these conditions are so rare, doctors don't yet have a complete picture of how they progress over time, how they affect different people, or the best ways to manage them. This study aims to fill those gaps in knowledge. By carefully observing and collecting information from people with PBD, researchers hope to build a clearer picture of the conditions.

The main goal is to understand the course of PBD better, from how symptoms first appear to how they change over months and years. This information is key to developing better guidelines for care, finding new treatments, and ultimately improving the lives of individuals and families affected by these challenging conditions.

Key takeaways

This study helps doctors learn more about rare genetic conditions called PBD.
It uses existing medical information from your routine care.
The goal is to understand how PBDs develop and improve future treatments.
Participation might involve sharing medical records and samples (blood/urine) collected for your regular check-ups.
Your privacy is protected, and records are made anonymous.
You can choose to withdraw from the study at any time.

Who may be eligible?

To join this study, people need to have a confirmed diagnosis of a Peroxisome Biogenesis Disorder (PBD). This includes conditions like Zellweger Spectrum Disorder or Rhizomelic Chondrodysplasia Punctata, among others.

Even if someone has a problem with just one peroxisome enzyme or protein that causes symptoms similar to PBD, they might also be able to take part.

You wouldn't be able to join if your condition is not a PBD, or if your peroxisome problem doesn't cause symptoms similar to those typically seen in PBD.

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.

Do I have a confirmed diagnosis of a Peroxisome Biogenesis Disorder (PBD)?
Or do I have a single peroxisome problem with symptoms similar to PBD?
Am I willing to share my past and future medical records?
Am I comfortable with researchers using samples (like blood/urine) collected during my routine care?

Answer every question to see your result.

What does participation involve?

If you decide to take part, you might have the option to visit the McGill University Health Centre in Montreal, Canada, once a year. During these visits, you would see specialists in genetics, nutrition, neurology, and eye care, including specific eye scans (OCT and FAF exams).

For everyone in the study, researchers will carefully collect all your medical records and scan results, both from your past and any new ones during the study. This information will be put into a secure, anonymous database. You won't need to have extra tests or procedures just for the study; they will use information from your usual medical care. Researchers will also collect blood and urine samples, if available, to look for new indicators of the disease. The study will continue for about five years, or until the study officially ends.

Potential risks and benefits

Participating in this study mainly involves sharing your existing medical information, which helps researchers learn more about PBD. This could lead to better understanding, diagnosis, and treatment for people with these conditions in the future. The risks are very low, as you won't undergo any extra or risky procedures that aren't part of your routine care. Any medical samples collected would be from those already taken for your usual check-ups. You are always free to change your mind and withdraw from the study at any time without it affecting your medical care.

Locations (1)

Research Institute of the McGill University Health Center
Verified postcode
Montreal, Canada· Recruiting

Common questions

What is a Peroxisome Biogenesis Disorder (PBD)?

It's a rare genetic condition where tiny parts of your cells, called peroxisomes, don't work properly, affecting different body functions.

Do I need to travel if I join the study?

You might have the option to visit a clinic in Montreal, Canada, yearly, but for many, participation involves sharing existing medical records from your local doctor.

Will I get new treatments during this study?

No, this study is about understanding the natural progression of the conditions and improving future care, not testing new treatments directly on patients.

Will my personal information be kept private?

Yes, all your medical records will be added to a database anonymously to protect your privacy.

How long will this study last?

The study aims to follow participants for about five years, or until the study finishes.

How to find out more

Nancy E Braverman, MD, MS

nancy.braverman@mcgill.ca (1) 514-934-1934 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.