AuthorisedTherapeutic exploratory (Phase II)Interventional

Deflazacort TREATment in LMNArelated congenital muscular dystrophy: study of clinical effectiveness and search for reliable biomarkers

This research study is looking at how a medicine called Deflazacort (in drop form) affects people with muscle weakness due to a condition called laminopathy. Laminopathy is a group of rare genetic conditions that can cause problems with the muscles, including a type of muscle weakness present from birth. The main goal is to find out if Deflazacort can help improve muscle strength and other physical abilities. The study will also look for reliable ways to track how well the treatment is working. This is a Phase II study, meaning it's an early stage of testing to see if the medicine is safe and effective before larger studies are done. Participants will take the drops and be checked regularly over 18 months.

At a glance

Status

Authorised

Phase

Therapeutic exploratory (Phase II)

Sponsor

Azienda Ospedaliero Universitaria Pisana

Enrolment target

Start

21 Jan 2025

Laminopathies

What is this study about?

This study is about a condition called laminopathy, which affects the muscles and can cause weakness, sometimes starting when a person is very young. We're testing a medicine called Deflazacort, which is given as drops you take by mouth. The main aim is to see if this medicine can help improve how people with laminopathy use their muscles and feel better overall.

Researchers will carefully watch how participants' bodies respond to the Deflazacort drops. They will do this by checking different health measurements at regular times over 18 months. This will help them understand if the medicine makes a positive difference and how to best measure these improvements in the future. Because this is a Phase II study, it's an important step in learning more about new treatments for laminopathy.

The study is called "Therapeutic exploratory" because it's exploring whether Deflazacort can be a helpful treatment. Finding effective treatments for conditions like laminopathy is very important for improving the lives of those affected, and this research aims to contribute to that goal.

Key takeaways

This study is testing Deflazacort drops for muscle weakness in laminopathy.
It's an early-stage study (Phase II) to check if the medicine is safe and effective.
Participants will take the drops daily and have regular check-ups over 18 months.
The study aims to improve muscle strength and find ways to measure treatment effects.
Adults aged 18 and over, both men and women, with laminopathy are eligible.

Who may be eligible?

To be considered for this study, you must be 18 years old or older. There is no upper age limit, meaning older adults can also participate.

Both men and women are welcome to join this research study. Your gender does not affect whether you can take part.

Beyond age and gender, the key requirement is that you have a diagnosis of laminopathy. The study team will need to confirm this with your medical records.

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.

Are you 18 years old or older?
Do you have a diagnosis of laminopathy?
Are you able to commit to 18 months of participation?
Are you open to taking daily medication drops?

Answer every question to see your result.

What does participation involve?

If you decide to take part, you would be given Deflazacort drops to take daily. The dose will be 0.9mg for every kilogram of your body weight. You will have several follow-up appointments over an 18-month period. These visits will happen at the start (T0), and then at 6, 12, 15, and 18 months (T6, T12, T15, T18) to check on your health and see how you are responding to the medicine. During these visits, the study team will carry out various tests and assessments to measure changes in your muscle function and other health markers. The total duration of your active participation in the study, including all treatments and follow-up visits, will be about 18 months.

Potential risks and benefits

Participating in any study has possible benefits and risks. You might benefit from receiving a potential new treatment for laminopathy, and your participation will help doctors learn more about the condition, which could help others in the future. However, there could be side effects from taking Deflazacort, and treatments don't always work for everyone. The study team will thoroughly explain all known risks. Remember, you have the right to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (1)

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

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Unverified
Italy

Common questions

What is laminopathy?

Laminopathy is a group of rare genetic conditions that can cause problems with various parts of the body, especially the muscles and heart, often leading to weakness or other issues.

What is Deflazacort?

Deflazacort is a type of medicine, specifically a corticosteroid, which is being tested in this study in a liquid drop form to see if it can help with muscle weakness in laminopathy.

Will I get 'dummy' drops (a placebo)?

The study description doesn't mention a placebo group. It states that participants will receive Deflazacort drops at a specific dose.

How long will the study last for me?

If you join, your participation, including taking the medicine and having check-ups, will last for about 18 months.

What does a 'Phase II' study mean?

A Phase II study is an early stage of research where doctors test a new medicine in a small group of people to see if it's safe and helps with the condition, and to find the best dose, before larger studies begin.