RecruitingOBSERVATIONAL

Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach

This study is about understanding the long-term effects of a medicine called Carglumic Acid (also known as CARBAGLU®) for people living with rare genetic conditions called Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA). We want to learn how this treatment helps manage these conditions over several years. The study will collect information from patients' existing medical records and involve talking with adult patients and their caregivers by phone. This will help researchers understand how the conditions and their treatment affect daily life. The aim is to gather a clear picture of how people are doing on this medication and to learn about their experiences.

At a glance

Status

Recruiting

Sponsor

RECORDATI GROUP

Enrolment target

Start

15 Jan 2019

Estimated completion

30 Jul 2029

Methylmalonic Acidemia Propionic Acidemia

What is this study about?

Imagine you or someone you care for has a rare condition like Methylmalonic Acidemia (MMA) or Propionic Acidemia (PA). These conditions mean your body has trouble breaking down certain proteins, leading to a build-up of harmful substances. To help manage this, doctors often prescribe a medicine called Carglumic Acid (which you might know as CARBAGLU®). This study is designed to carefully watch and understand how this medicine works for people with MMA and PA over a long time, sometimes several years.

Researchers will be looking at information that's already in patients' medical records from several European countries, including the UK. They'll be checking things like how treatment plans have changed, how well patients are managing their condition, and what kind of hospital visits or healthcare they've needed. This helps to paint a picture of the journey patients go through.

But it's not just about numbers! The study also wants to hear from adult patients and their carers directly. By having a chat over the phone, they can share their experiences of living with MMA or PA and how the treatment affects their daily lives. This 'mixed methods' approach combines factual data with personal stories to give a really full understanding of both the condition and the impact of the medicine.

Key takeaways

This study helps understand long-term effects of Carglumic Acid for rare conditions (MMA/PA).
It collects information from existing medical records.
It includes phone interviews with patients or caregivers about their experiences.
No changes to your current treatment or extra hospital visits are required.
Your participation helps improve future care for people with MMA and PA.
You can stop taking part at any time without affecting your medical care.

Who may be eligible?

To join this study, a person must have a clear diagnosis of either Methylmalonic Acidemia (MMA) or Propionic Acidemia (PA). They also need to have been taking the medicine Carglumic Acid for at least six months to help manage their condition.

They should be able to follow the study's steps and, if they are an adult, be able to give their consent (agreement) to take part. For younger patients, their parent or guardian would need to agree and give consent on their behalf.

There aren't any specific reasons that would stop someone from taking part, as long as they meet the main requirements mentioned above.

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 Methylmalonic Acidemia (MMA) or Propionic Acidemia (PA)?
Have I been taking Carglumic Acid for at least 6 months?
Am I, or my caregiver, able to follow study instructions?
If I'm an adult, am I able to give my permission (consent)?

Answer every question to see your result.

What does participation involve?

If you decide to take part, your doctor will check your existing health records at the beginning of the study (this is called the 'baseline'). They will then do follow-up checks by looking at your records again at 12 months, 18 months, 36 months, and 54 months after the start. All the information from your medical notes will be put into a secure online system.

Additionally, if you are an adult patient or a caregiver, you will be invited to have a one-on-one phone interview. This interview will happen sometime after the first six months of the study. There are no extra hospital visits or new medicines involved; it's all about gathering information from your existing care and your personal experiences. The total duration of data collection from records will be up to 54 months (around 4.5 years).

Potential risks and benefits

Taking part in this study won't involve any changes to your current treatment or any extra medical procedures, so there are no new medical risks. Your personal information will be kept private and handled with care to protect your identity. The main benefit is that your experiences and health information will help doctors and researchers better understand MMA and PA and how Carglumic Acid works long-term. This could lead to better care for people with these conditions in the future. You have the right to withdraw from the study at any time without giving a reason, and this will not affect your medical care.

Locations (32)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

Hopital Des Enfants, CHU de Bordeaux-GH Pellegrin
Verified postcode
Bordeaux, France· Recruiting
Hopital de la Conception
Verified postcode
Marseille, France· Recruiting
Hôpital de la Timone
Verified postcode
Marseille, France· Recruiting
CHU de Nancy - Hopitaux de Brabois
Verified postcode
Nancy, France· Recruiting
Hôpital Necker Enfants Malades
Verified postcode
Paris, France· Recruiting
CHU de Rouen
Verified postcode
Rouen, France· Recruiting
Nouvel Hopital Civil
Verified postcode
Strasbourg, France· Recruiting
Hopital de Hautepierre
Verified postcode
Strasbourg, France· Recruiting
Klinikum Bremen Mitte, Prof. Hess Kinderklinik
Verified postcode
Bremen, Germany· Recruiting
Azienda Ospedaliero Universitaria Meyer
Verified postcode
Florence, Italy· Recruiting
San Paola Hospital, ASST Santi Paolo e Carlo
Verified postcode
Milan, Italy· Recruiting
Milan Policlinico University
Verified postcode
Milan, Italy· Recruiting

Common questions

What is Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA)?

These are rare inherited conditions where the body can't properly process certain parts of food, leading to harmful substances building up.

What is Carglumic Acid (CARBAGLU®)?

It's a medicine used to help manage these conditions by helping the body deal with the harmful substances.

Will I have to take new medicine or change my current treatment?

No, this study is about observing your current treatment and experiences; it won't change your medicine or care.

How will my personal information be kept safe?

Your information will be anonymised or de-identified where possible and handled very carefully to protect your privacy.

Can I stop participating in the study at any time?

Yes, you can withdraw from the study whenever you want to, and it won't affect your medical care.

How to find out more

Vincenzo Giordano, MD

giordano.v@recordati.com 33 1 79911282 Official trial record

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