Study on the Effects of Injectable Gentamicin for Patients with Moderate to Severe Congenital Ichthyosis

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What is this study about?

This clinical trial is focused on studying a skin condition called congenital ichthyosis, which is a group of genetic disorders that cause dry, scaly skin. The study is investigating the use of a medication called gentamicin, which is given as an injection. Gentamicin is typically used to treat infections, but in this study, it is being tested to see if it can help reduce the severity of skin scales and redness in people with moderate to severe congenital ichthyosis caused by a specific type of genetic change known as a nonsense mutation.

The purpose of the study is to evaluate how effective gentamicin is in improving the skin condition over a period of time. Participants in the study will receive injections of gentamicin and will be monitored for changes in their skin condition. The study will track the severity of the skin scales and redness at different times to see if there is any improvement. Participants will also be asked about their experience with itching and their overall quality of life during the study.

Throughout the study, various assessments will be conducted to ensure the safety and well-being of the participants. These assessments include checking kidney function, hearing, and balance, as well as collecting information on any side effects experienced. The study aims to provide valuable information on whether gentamicin can be a beneficial treatment for people with congenital ichthyosis.

1 joining the study

Upon joining the study, the patient must provide free, informed consent, which is written and signed by both the participant and the investigator. This must be completed before any study-related examinations.

2 initial assessment

The patient undergoes a baseline assessment, which includes the evaluation of the severity of scales and redness using the VIIS score. This score assesses the condition in four areas: back, upper limbs, lower limbs, and back of the foot.

Additional baseline tests include creatinine levels, bacteriology with antibiogram, vestibular function test, audiogram, video Head Impulse Test, and videonystagmography.

3 medication administration

The patient receives an injection of gentamicin sulfate, a solution for injection/infusion, known as Gentamicin Panpharma 40 mg/ml. The frequency and duration of administration are determined by the study protocol.

4 monthly evaluations

At months 1, 2, 3, 4, 5, 6, and 9, the patient undergoes evaluations of scaling and redness severity using the VIIS score, and pruritus is assessed using a visual scale from 0 to 10.

Transepidermal water loss is measured on the forearm using a tewameter at months 1, 2, 3, and 6.

5 adverse event monitoring

Throughout the study, adverse events are monitored. This includes regular checks of creatinine levels before each injection, bacteriology tests at baseline, month 3, and month 6, and vestibular function tests at specified intervals.

6 global assessments

The physician’s Investigator Global Assessment (IGA) and the patient’s Patient Global Assessment (PtGA) are conducted at months 1, 2, 3, 4, 5, 6, and 9.

7 protein expression evaluation

At month 3, a skin biopsy from the inner arm is performed to evaluate protein expression through a quantitative analysis method known as western blot.

8 quality of life assessment

The patient’s quality of life is assessed using the IQoL-32 score, which is specific to ichthyosis, at months 3, 6, and 9.

9 satisfaction questionnaire

At month 6, the patient completes a global satisfaction questionnaire to provide feedback on their experience in the study.

Who Can Join the Study?

Must be an adult, which means you need to be 18 years or older.
Must have a type of skin condition called hereditary ichthyosis. This is a condition you are born with, and it is caused by a specific change in your genes. The genes involved can be TGM1, PNPLA1, ALOX12B, NIPAL4, ALOXE3, SDR9C7, ABCA12, CERS3, SPINK5, or CDSN.
The condition should be moderate to severe. This is determined by a score called the VIIS score, which should be between 2 and 3 in at least two of these areas: back, upper limbs, lower limbs, or back of the foot.
Must agree to participate by providing free, informed consent. This means you understand what the study involves and agree to take part by signing a consent form before any study-related tests are done.

Who Cannot Join the Study?

Where you can join this trial?

Verified and Recommended Sites

No sites found in this category

Verified Sites

Site Name	City	Country	Status
Oncopole Claudius Regaud	Toulouse	France

Other Sites

Site Name	City	Country	Status
Centre Hospitalier Universitaire De Toulouse	Toulouse	France
Aqtmpvfctv Pnxnlcxm Hxyeztte Db Pfnpa	Paris	France

Trial status

Country	Status	Recruitment Start
France	Recruiting	01.01.2024

Trial locations

Investigated drugs:

Gentamicin Sulfate

Gentamicin is an injectable medication being studied for its effectiveness in treating hereditary ichthyosis, a skin condition characterized by dry, scaly skin. The trial aims to assess how well gentamicin can reduce the severity of scales and redness in patients with moderate to severe forms of this condition, which are caused by a specific genetic mutation.

Congenital Ichthyosis – Congenital Ichthyosis is a group of genetic skin disorders characterized by dry, scaly skin. The condition is present at birth and results from mutations affecting skin cell turnover, leading to the accumulation of thickened, scaly skin. The severity of the condition can vary, with some individuals experiencing mild symptoms while others have more pronounced scaling and redness. The skin may appear cracked and can be prone to infections due to the compromised barrier. Over time, the condition can lead to discomfort and itching, impacting daily activities and quality of life. Regular skin care is essential to manage the symptoms and maintain skin health.

Trial ID:

2023-505570-15-00

Protocol code:

RC31/22-0320

Trial Phase:

Therapeutic exploratory (Phase II)

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Study on the Effects of Injectable Gentamicin for Patients with Moderate to Severe Congenital Ichthyosis

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