IchthyosisPhase 2GENTICNCT06362447
Efficacy of Injectable Gentamicin in Hereditary Ichthyosis
A Phase 2 study testing Gentamicin Injectable Solution in people with Ichthyosis, run by University Hospital, Toulouse at 2 sites in France.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 to 75 years
- Conditions the study is for
- Ichthyosis
- What is being tested?
- Gentamicin Injectable Solution
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 26 participants
- Where
- 2 sitesFrance
- Study dates
- Sep 2024to 1 Apr 2027
- Phase
- Phase 2
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 75 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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).
Who cannot join
- 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)
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- 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
- Variation greater than 15% in the Validating an Ichthyosis Severity Index score between two baseline measurements.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
France2 sites
Hôpital Saint-Louis APHP
Paris, France, 75010
BOURRAT Emmanuelle, MD, 01 42 49 90 90 ext. 33, emmanuelle.bourrat@aphp.fr
CHU de Toulouse
Toulouse, France, 31059
SEVERINO-FREIRE Maella, MD, 05 67 77 81 41 ext. 33, severino-freire.m@chu-toulouse.fr
TEXIER Hélène, 05 67 77 81 80 ext. 33, texier.h@chu-toulouse.fr
About this study
Official title: Phase 2 Study Evaluating the Efficacy of Injectable Gentamicin in Hereditary Ichthyosis
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.
Read the detailed description
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.
- Conditions
- Ichthyosis
- Being tested
- Gentamicin Injectable Solution
- Keywords
- Congenital ichthyoses, injectable gentamicin
- Medical subject headings
- Ichthyosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Gentamicin Injectable SolutionDrug
Gentamicin (10 mg/kg) will be administrated once weekly for 3 months
| Study group | Role | What they receive |
|---|---|---|
| Gentamicin | Experimental | Gentamicin injection Receives: Drug: Gentamicin Injectable Solution |
What is being measured
The primary outcome is the main question the study is designed to answer.
Gentamicin efficacity
Proportion of patients with a reduction in Visual Index of Ichthyosis Severity score of at least 15%
Measured: 3 months
Secondary outcomes (2)
Gentamicin efficacity
Proportion of patients with a reduction in Visual Index of Ichthyosis Severity score
Measured: Month 1, Month 2, Month 4, Month 5, Month 6 and Month 9
Gentamicin efficacity on quality of life
Assessment of quality of life by IQoL-32 score (specific to ichthyosis)
Measured: Month 3, Month 6 and Month 9
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Apr 2024
- Study startSep 2024 (estimated)
- Primary completion1 Apr 2026 (estimated)
- Study completion1 Apr 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for IchthyosisStudies of the same condition, open and under way.
- More trials run by University Hospital, ToulouseThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 26 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Toulouse
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- SEVERINO-FREIRE Maella, MD, Principal investigator, University Hospital, Toulouse
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06362447
- Sponsor's protocol ID
- RC31/22/0320
- Acronym
- GENTIC
- Status last verified
- Aug 2024
- First submitted
- 2 Apr 2024
- Last updated
- 5 Sep 2024
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Sep 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phase 2 Study Evaluating the Efficacy of Injectable Gentamicin in Hereditary Ichthyosis
- ClinicalTrials.gov ID
- NCT06362447
- Acronym / sponsor ID
- GENTIC / RC31/22/0320
- Conditions
- Ichthyosis
- Keywords
- Congenital ichthyoses, injectable gentamicin
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 26 participants (estimated)
- Lead sponsor
- University Hospital, ToulouseUniversity, hospital or other
- Study start
- Sep 2024 (estimated)
- Primary completion
- 1 Apr 2026 (estimated)
- Study completion
- 1 Apr 2027 (estimated)
- First posted
- 12 Apr 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Gentamicin | Experimental | Drug: Gentamicin Injectable SolutionGentamicin injection |
Who may qualify
- Ages
- 18 to 75 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (4 listed)
- 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).
Key exclusion criteria (21 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Gentamicin Injectable SolutionGentamicin (10 mg/kg) will be administrated once weekly for 3 months | Drug | Gentamicin |
Primary outcome
Gentamicin efficacity
Time frame: 3 months
Proportion of patients with a reduction in Visual Index of Ichthyosis Severity score of at least 15%
2 secondary outcomes
Gentamicin efficacity
Time frame: Month 1, Month 2, Month 4, Month 5, Month 6 and Month 9
Gentamicin efficacity on quality of life
Time frame: Month 3, Month 6 and Month 9
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Sep 2024.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
SEVERINO-FREIRE Maella, MD principal investigator
University Hospital, Toulouse
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Gentamicin Injectable Solution in people with Ichthyosis, run by University Hospital, Toulouse at 2 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 21 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 5 Sep 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact SEVERINO-FREIRE Maella, MD (05 67 77 81 41 ext. 33, severino-freire.m@chu-toulouse.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Gentamicin efficacity (time frame: 3 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Sep 2024.