Phase 2 study evaluating the efficacy of injectable gentamicin in hereditary ichthyosis - GENTIC

Phase 1

• Conditions: Congenital Ichthyosis; MedDRA version: 20.0Level: LLTClassification code: 10010511Term: Congenital ichthyosis Class: 10010331; MedDRA version: 20.0Level: SOCClassification code: 10010331Term: Congenital familial and genetic disorders Class: 21; Therapeutic area: Diseases [C] - Skin and Connective Tissue Diseases [C17]

• Registration Number: CTIS2023-505570-15-00
• Lead Sponsor: Centre Hospitalier Universitaire De Toulouse

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2023-11-06
• Last Update Posted: 22 July 2024

Recruitment & Eligibility

• Status: ot Recruiting
• Sex: All
• Target Recruitment: 26

Inclusion Criteria

Adult patients (=18 years) affiliated to a social insurance protection regimen, Hereditiary ichthyosis caused by a homozygous non-sense mutation of a gene responsible for hereditiary ichthyosis (TGM1, PNPLA1, ALOX12B, NIPAL4, ALOXE3, SDR9C7, ABCA12, CERS3, SPINK5 and CDSN), Moderate to severe forms of ichthyosis defined as VIIS 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).

Exclusion Criteria

Cutaneous signs suggesting a surinfection, Patient under guardianship, curatorship or deprived of their liberty, Variation greater than 15% in the VIIS score between two baseline measurements at the end of the run-inperiod, 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 contraceptive measures in accordance with CTFG recommandations, 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, Patient with pre-existing neuromuscular disease, Patient participating in another clinical study with an investigational treatment, Grade B or C cirrhosis according to Child-Pugh classification, Nephropathy or other situation at risk of renal dysfunction, Renal insufficiency with GFR < 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 rRNA (mitochondrial DNA) 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

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified