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Study on the Effectiveness of Deflazacort in Treating LMNA-related Congenital Muscular Dystrophy in Adults and Children

Verified siteRegistered drugNo placebo
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What is this trial about?

A plain-language summary of the goals, design and what participants do

This clinical trial is focused on studying the effects of a medication called Deflazacort on a rare group of muscle diseases known as Laminopathies, specifically targeting a type called LMNA-related congenital muscular dystrophy (L-CMD). Deflazacort is a type of medication known as a glucocorticoid, which is often used to reduce inflammation and suppress the immune system. The purpose of this study is to evaluate how effective Deflazacort is in improving the health outcomes of patients with L-CMD.

Participants in the study will receive Deflazacort in the form of oral drops, with a dosage of 0.9 mg per kilogram of body weight each day. The study will observe both adult and pediatric patients over a period of time to see how their condition changes with the treatment. The study aims to track changes in clinical outcomes and other health markers, known as biomarkers, to understand the impact of the treatment.

The study will follow participants through several stages, checking their progress at different times to gather data on how Deflazacort affects their condition. This will help researchers determine the effectiveness of the treatment and identify any potential benefits or side effects. The ultimate goal is to find reliable ways to improve the quality of life for those affected by L-CMD.

The research process

The trial runs in 5 steps – from screening to follow-up. Each step says what happens and what the team monitors.

  1. Step 1

    Initial assessment

    Upon joining the study, an initial assessment is conducted to confirm eligibility. This includes verifying the clinical and genetic diagnosis of L-CMD or EDMD2 with onset before 5 years of age.

    Reproducible measurements of forced vital capacity (FVC) are required, with variability less than 15% between two repeated measures.

  2. Step 2

    Informed consent

    Informed consent must be signed by the patient if they are an adult, or by a parent or legal guardian if the patient is a minor.

  3. Step 3

    Treatment initiation

    The treatment involves the administration of Deflazacort oral drops, a corticosteroid medication.

    The dosage is 0.9 mg per kilogram of body weight per day, administered via buccal use, which means the medication is placed in the mouth to be absorbed through the cheek.

  4. Step 4

    Treatment monitoring

    The effects of the treatment are evaluated at specific intervals: T0 (baseline), T6 (6 months), T12 (12 months), T15 (15 months), and T18 (18 months).

    These evaluations focus on changes in clinical parameters and secretome, which refers to the set of proteins secreted by cells, tissues, or organisms.

  5. Step 5

    Follow-up

    Regular follow-up appointments are scheduled to monitor the patient's response to the treatment and to assess any changes in health status.

    The study is expected to conclude by March 6, 2025.

Who can join the trial?

8 criteria

  • Patients must be between the ages of 3 and 40 years old.
  • Both males and females can participate.
  • Participants should be of Caucasian origin.
  • Patients must have a clinical and genetic diagnosis of either L-CMD or EDMD2. These are specific types of conditions related to muscle weakness.
  • The onset of the condition must have occurred before the age of 5 years.
  • Participants should not have previously been treated with corticosteroids. These are a type of medication often used to reduce inflammation.
  • Patients need to provide consistent measurements of their forced vital capacity (FVC). This is a test that measures how much air a person can exhale after taking a deep breath. The variability between two repeated measures should be less than 15%.
  • Informed consent must be signed by the patient if they are an adult. If the patient is a minor, the consent must be signed by their parents or legal guardian.

Who cannot join the trial?

10 criteria

  • Patients with other serious health conditions that might interfere with the study.
  • Patients who are currently participating in another clinical trial.
  • Patients who have had a recent surgery or are planning to have surgery during the study period.
  • Patients who are unable to follow the study procedures or attend the required visits.
  • Patients who have allergies or reactions to the study medication or similar drugs.
  • Patients who are pregnant or breastfeeding.
  • Patients with a history of drug or alcohol abuse.
  • Patients who have been diagnosed with a mental health condition that might affect their ability to participate.
  • Patients who have been diagnosed with an infection that requires treatment with antibiotics.
  • Patients who have received a live vaccine within the last 4 weeks.
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Investigated drugs

Deflazacort is a medication used in this clinical trial to evaluate its effect on patients with LMNA-related congenital muscular dystrophy. It is administered in the form of drops. The goal is to assess how this treatment impacts the clinical outcomes and secretome, which refers to the proteins secreted by cells, in both adult and pediatric patients.

What is already known about the treatment

Deflazacort – Deflazacort is administered orally in the form of drops, with a typical dosage of 0.9 mg/kg/day. It is currently being studied for its effectiveness in treating laminopathies, specifically LMNA-related congenital muscular dystrophy. The medication is a corticosteroid, which works by reducing inflammation and modulating the immune response at the molecular level. It is classified pharmacologically as a glucocorticoid and is being evaluated for its potential to improve clinical outcomes and identify reliable biomarkers in both adult and pediatric patients.

Investigated diseases

Laminopathies – Laminopathies are a group of rare genetic disorders caused by mutations in the LMNA gene, which affects the nuclear envelope of cells. These disorders can lead to a variety of symptoms, including muscle weakness, heart problems, and changes in physical appearance. The progression of laminopathies can vary widely, with some individuals experiencing mild symptoms and others facing more severe complications. Over time, affected individuals may develop issues with mobility and endurance due to muscle involvement. Heart-related symptoms can also progress, potentially affecting the rhythm and function of the heart. The specific symptoms and their progression can differ depending on the exact mutation and the type of laminopathy present.
Trial detailsLast updated 7 Oct 2026
Age18+ yearsPhasePhase IITrial ID2024-519672-12-00Protocol codeTREAT LMNAEstimated enrolment20 patientsSponsorAzienda Ospedaliero Universitaria Pisana

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