Набор скоро начнётся NCT06362447

Efficacy of Injectable Gentamicin in Hereditary Ichthyosis

Фаза II С лечением Ichthyosis

Ориентир для пациента и семьи

Простыми словами

Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.

Что изучают: В протоколе указаны: Gentamicin Injectable Solution.
Кому может быть актуально: Состояния в реестре: Ichthyosis. Базовые параметры: 18 лет — 75 лет · Все.
Что важно проверить: Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
Где проводится: Франция
Следующий шаг: Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →

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Официальное название

Phase 2 Study Evaluating the Efficacy of Injectable Gentamicin in Hereditary Ichthyosis

Обзор

This study will evaluate the efficacy and safety of intravenous gentamicin in congenital ichthyosis due to a non-sens mutation. The primary objective is the severity of scales and erythema at the third month, compared to baseline. Secondary objectives will include: the importance of itching, trans epidermal water loss, cutaneous expression of the targeted protein, the security of the drug and patients' satisfaction.

Подробное описание

Congenital ichthyoses represent a group of diseases characterized by disabling cutaneous anomalies (scales and inconstant erythema) often associated with extra cutaneous anomalies that may be severe. The treatment is non curative and symptomatic, including local treatments (ie. emollients). Oral retinoids may be helpful in moderate to severe forms. There is a huge need for novel therapies, ideally targeting the molecular defect. Gentamicin may be a novel therapeutic option for congenital ichthyosis.

Apart its antimicrobial effect, gentamicin can achieve stop codon readthrough and produce full-length protein.

In this study, gentamicin (10 mg/kg) will be administrated once weekly for 3 months. The study will include monthly visits, a follow-up visit 3 months after the stopping the drug and an end-of-study visit 3 months after the follow-up visit. Kidney and hearing functions will be assessed regularly.

Вмешательства

Препарат Gentamicin Injectable Solution
Gentamicin (10 mg/kg) will be administrated once weekly for 3 months

Первичные конечные точки

Gentamicin efficacity [Срок оценки: 3 months]

Вторичные конечные точки (2)

Gentamicin efficacity [Срок оценки: Month 1, Month 2, Month 4, Month 5, Month 6 and Month 9]
Gentamicin efficacity on quality of life [Срок оценки: Month 3, Month 6 and Month 9]

Критерии участия

Критерии включения

Adult patients affiliated to a social insurance protection regimen.
Hereditary ichthyosis caused by a homozygous non-sense mutation of a gene responsible for hereditary ichthyosis (TGM1, PNPLA1, ALOX12B, NIPAL4, ALOXE3, SDR9C7, ABCA12, CERS3, SPINK5 and CDSN)
Moderate to severe forms of ichthyosis defined as Validating an Ichthyosis Severity Index score at 2-3 on at least 2 out of 4 areas evaluated (back, upper limbs, lower limbs, back of the foot)
Free, informed consent, written and signed by the participant and the investigator (at the latest on the day of inclusion and before any examination required by the research).

Критерии исключения

Cutaneous signs suggesting a surinfection
Hypersensibility of active substance or one of the gentamicin excipients
Administration of an aminoside in the previous 3 months
Treatment with nephrotoxic or ototoxic medication in the previous 6 weeks
Pregnant or breastfeeding women, or women planning to become pregnant or breastfeed during the study. Women of childbearing age, potentially sexually active, and unwilling to use acceptable contraception measures in accordance with Clinical Trials Facilitation and Coordination Group recommendations
Subjects >75 years (physiological impairment of kidney function)
Left ventricular insufficiency
Hypoalbuminemia
Myasthenia
History of necrosis at the injection site during previous treatment with aminosid
Grade B or C cirrhosis according to Child-Pugh classification
Nephropathy or other situation at risk of renal dysfunction
Renal insufficiency with glomerular filtration rate < 60mL/min
Surdity which is not caused by plug scales in the external ear canals or other situation at risk of surdity including the presence of the A1555G mutation in the 12S ribonucleic acid (mitochondrial deoxyribonucleic acid) gene
Patient who modify his keratolytic or emollient treatment in the last two weeks previous the inclusion visit
Patient who modify his retinoid topic treatment in the month previous the inclusion visit
Patient who modify his systemic retinoid treatment in the 3 months previous the inclusion visit
Patient under guardianship, curatorship or deprived of their liberty
Patient with pre-existing neuromuscular disease
Patient participating in another clinical study with investigational treatment