Hereditary Hypotrichosis SimplexPhase 2NCT03492866
Efficacy of Topical Gentamycin for Hereditary Hypotrichosis Simplex Caused by Nonsense Mutations in CDSN
A Phase 2 study testing Gentamicin Sulfate in people with Hereditary Hypotrichosis Simplex, run by Tel-Aviv Sourasky Medical Center.
Trial summary
The scalp-limited for of hereditary hypotrichosis simplex (HHS; MIM146520) is an autosomal dominant form of non-syndromic alopecia which is caused by heterozygous nonsense mutations in the CDSN gene, encoding corneodesmosin (1). Read more about this study
- Who is it for?
- Ages 18 to 120 years
- Conditions the study is for
- Hereditary Hypotrichosis Simplex
- What is being tested?
- Gentamicin Sulfate
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 8 participants
- Where
- No sites listed yet
- Study dates
- Apr 2018to Apr 2019
- Phase
- Phase 2
- Are there results?
- None posted in the registry
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 120 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Patients with hypotrichosis simplex of the scalp carrying a nonsense heterozygous mutation in the CDSN gene
- Patients 18 years of age or older
- Patient with normal hearing assessment within 30 days prior to treatment with the investigational drug
- Patients with normal liver and renal function
Who cannot join
- Patients with Hypotrichosis simplex of the scalp with no identified mutation in CDSN
- Patients under 18 years of age
- Patients with known hearing loss and renal and liver insufficiency
- Patients with impaired skin barrier over the scalp such as bruise, ulcer, erosion etc.
- Pregnancy and breastfeeding
Trial locations and contacts
No sites are listed yet.
About this study
Official title: The Efficacy of Topical Gentamycin for the Treatment of Hereditary Hypotrichosis Simplex Caused by Heterozygous Nonsense Mutations in CDSN Encoding Corneodesmosin
The scalp-limited for of hereditary hypotrichosis simplex (HHS; MIM146520) is an autosomal dominant form of non-syndromic alopecia which is caused by heterozygous nonsense mutations in the CDSN gene, encoding corneodesmosin (1). The disease features diffuse gradual scalp hair loss that starts in the middle of the first decade of life and progresses to total alopecia till the third decade of life. Recent studies have shown that aminoglycosides have the potential to induce readthrough of nonsense mutations in human cells.
The aim of this study is to investigate whether topical aminoglycosides (Gentamycin) may be beneficial for the treatment of HHS patients carrying nonsense mutations by inducing readthrough.
Read more
The Study goals:
To assess the short and long term efficacy of topical gentamycin for the treatment of hereditary hypotrichosis simplex caused by nonsense heterozygous mutations in CDSN.
The primary end point:
To assess scalp hair growth during study period as compared to baseline. Hair growth will be evaluated during enrollment and every 4 weeks. The secondary end points will be time to regrowth for determining efficacy.
Read the detailed description
Study design: An open label one arm prospective study designed to evaluate the short and long term efficacy of topical gentamycin for the treatment of 8 patients with hypotrichosis simplex of the scalp.
Patients with hypotrichosis simplex of the scalp carrying a nonsense heterozygous mutation in the CDSN gene, who are eligible to the study based on inclusion/exclusion criteria, will sign the informed consent and will start to apply on the right half of scalp topical Gentamycin twice daily. The medication will not be applied to the left half of the scalp. Other local treatments to the scalp should be avoided during the study period. Daily oral medications are allowed. The patients will undergo general blood examination tests at baseline and every 4 weeks for safety measures. Blood tests include CBC, renal and liver function tests. Gentamycin levels will be assessed every 4 weeks.
Assessments on Visit 1:
Inclusion and exclusion criteria (including verifying normal hearing test at baseline prior to enrollment) Enrollment Baseline lab tests (CBC, renal and liver function tests) Physical exam SALT score Vellus hairs presence Pull test Patients self-assessment scale Photographs
Assessments on Follow up visits (every 4 weeks for a total of 6 months):
Physical exam Local site reactions SALT score Half head assessment Vellus hair presence Pull test Patients self-assessment scale Blood tests (CBC, renal and liver function tests) and gentamycin levels Photographs
Study withdrawal:
Patients with serious side effects of Gentamycin topical treatment such as hearing loss and impaired renal function or other serious side effect that according to the investigator judgment might jeopardize the patient's health. These are unexpected via local application and in the presence of intact skin.
- Conditions
- Hereditary Hypotrichosis Simplex
- Being tested
- Gentamicin Sulfate
- Medical subject headings
- Hypotrichosis simplex
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Gentamicin SulfateDrug
Topical treatment of 1 side of the scalp twice daily during 6 months
| Study group | Role | What they receive |
|---|---|---|
| Gentamicin Sulfate | Active comparator | All subjects will be treated with topical gentamycin applied twice daily (1 fingertip unit (FTU)) to the right half of the scalp. Total study period: 6 months. Receives: Drug: Gentamicin Sulfate |
| No treatment | No intervention | The medication won't be applied to the left half of the scalp. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Hair density over the scalp
The Severity of Alopecia Tool (SALT) Score will be the measure of hair density as following: Percentage of terminal hair loss is determined at the top of the scalp (A), the back of the scalp (B), left side of the scalp (C) and right side of the scalp (D). The sum of A+B+C+D = SALT score.
Measured: During 6 months of treatment
Secondary outcomes (4)
The presence of vellus hairs
The appearance of vellus hair on the treated half scalp versus the untreated half scalp is a qualitative measure for Gentamycin efficacy
Measured: During 6 months of treatment
Activity of hair loss
The hair pull test will indicate if active hair loss is present or not, in the treated half of the scalp versus the untreated half of the scalp as a measure for Gentamycin efficacy
Measured: During 6 months of treatment
Photographic documentation
Pictures of the scalp will be taken to illustrate Gentamycin effect
Measured: During 6 months of treatment
Side effects
Patients will be asked if they experienced side effects of topical Gentamycin treatment: local site reactions such as erythema, , irritation, dryness
Measured: During 6 months of treatment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Apr 2018
- Study startApr 2018 (estimated)
- Primary completionFeb 2019 (estimated)
- Study completionApr 2019 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hereditary Hypotrichosis SimplexStudies of the same condition, open and under way.
- More trials run by Tel-Aviv Sourasky Medical CenterThe 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
- Non-randomised
- Intervention model
- Crossover
- Model description
- Assessing in 8 patients the efficacy of topical gentamycin treatment on 1 side of the scalp by determining the amount of hair loss on the treated versus the untreated side of the scalp
- Masking
- None (open label)
- Enrolment
- 8 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Tel-Aviv Sourasky Medical Center
- Sponsor type
- Other government
- Responsible party
- Sponsor
- Investigators
- Liat Samuelov, Study director, Deprt. of Dermatology, Tel Aviv Sourasky MC
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03492866
- Sponsor's protocol ID
- TASMC-18-ES-0797-CTIL
- Status last verified
- Mar 2018
- First submitted
- 18 Mar 2018
- Last updated
- 10 Apr 2018
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 Apr 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Efficacy of Topical Gentamycin for the Treatment of Hereditary Hypotrichosis Simplex Caused by Heterozygous Nonsense Mutations in CDSN Encoding Corneodesmosin
- ClinicalTrials.gov ID
- NCT03492866
- Acronym / sponsor ID
- TASMC-18-ES-0797-CTIL
- Conditions
- Hereditary Hypotrichosis Simplex
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 8 participants (estimated)
- Lead sponsor
- Tel-Aviv Sourasky Medical CenterOther government
- Study start
- Apr 2018 (estimated)
- Primary completion
- Feb 2019 (estimated)
- Study completion
- Apr 2019 (estimated)
- First posted
- 10 Apr 2018 (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.
The scalp-limited for of hereditary hypotrichosis simplex (HHS; MIM146520) is an autosomal dominant form of non-syndromic alopecia which is caused by heterozygous nonsense mutations in the CDSN gene, encoding corneodesmosin (1). The disease features diffuse gradual scalp hair loss that starts in the middle of the first decade of life and progresses to total alopecia till the third decade of life. Recent studies have shown that aminoglycosides have the potential to induce readthrough of nonsense mutations in human cells.
The aim of this study is to investigate whether topical aminoglycosides (Gentamycin) may be beneficial for the treatment of HHS patients carrying nonsense mutations by inducing readthrough.
The Study goals:
To assess the short and long term efficacy of topical gentamycin for the treatment of hereditary hypotrichosis simplex caused by nonsense heterozygous mutations in CDSN.
The primary end point:
To assess scalp hair growth during study period as compared to baseline. Hair growth will be evaluated during enrollment and every 4 weeks. The secondary end points will be time to regrowth for determining efficacy.
Detailed description
Study design: An open label one arm prospective study designed to evaluate the short and long term efficacy of topical gentamycin for the treatment of 8 patients with hypotrichosis simplex of the scalp.
Patients with hypotrichosis simplex of the scalp carrying a nonsense heterozygous mutation in the CDSN gene, who are eligible to the study based on inclusion/exclusion criteria, will sign the informed consent and will start to apply on the right half of scalp topical Gentamycin twice daily. The medication will not be applied to the left half of the scalp. Other local treatments to the scalp should be avoided during the study period. Daily oral medications are allowed. The patients will undergo general blood examination tests at baseline and every 4 weeks for safety measures. Blood tests include CBC, renal and liver function tests. Gentamycin levels will be assessed every 4 weeks.
Assessments on Visit 1:
Inclusion and exclusion criteria (including verifying normal hearing test at baseline prior to enrollment) Enrollment Baseline lab tests (CBC, renal and liver function tests) Physical exam SALT score Vellus hairs presence Pull test Patients self-assessment scale Photographs
Assessments on Follow up visits (every 4 weeks for a total of 6 months):
Physical exam Local site reactions SALT score Half head assessment Vellus hair presence Pull test Patients self-assessment scale Blood tests (CBC, renal and liver function tests) and gentamycin levels Photographs
Study withdrawal:
Patients with serious side effects of Gentamycin topical treatment such as hearing loss and impaired renal function or other serious side effect that according to the investigator judgment might jeopardize the patient's health. These are unexpected via local application and in the presence of intact skin.
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Crossover
- Masking
- None (open label)
- Number of arms
- 2
- Model description
- Assessing in 8 patients the efficacy of topical gentamycin treatment on 1 side of the scalp by determining the amount of hair loss on the treated versus the untreated side of the scalp
| Arm | Type | Receives |
|---|---|---|
| Gentamicin Sulfate | Active comparator | Drug: Gentamicin SulfateAll subjects will be treated with topical gentamycin applied twice daily (1 fingertip unit (FTU)) to the right half of the scalp. Total study period: 6 months. |
| No treatment | No intervention | –The medication won't be applied to the left half of the scalp. |
Who may qualify
- Ages
- 18 to 120 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (4 listed)
- Patients with hypotrichosis simplex of the scalp carrying a nonsense heterozygous mutation in the CDSN gene
- Patients 18 years of age or older
- Patient with normal hearing assessment within 30 days prior to treatment with the investigational drug
- Patients with normal liver and renal function
Key exclusion criteria (5 listed)
- Patients with Hypotrichosis simplex of the scalp with no identified mutation in CDSN
- Patients under 18 years of age
- Patients with known hearing loss and renal and liver insufficiency
- Patients with impaired skin barrier over the scalp such as bruise, ulcer, erosion etc.
- Pregnancy and breastfeeding
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 SulfateTopical treatment of 1 side of the scalp twice daily during 6 months | Drug | Gentamicin Sulfate |
Primary outcome
Hair density over the scalp
Time frame: During 6 months of treatment
The Severity of Alopecia Tool (SALT) Score will be the measure of hair density as following: Percentage of terminal hair loss is determined at the top of the scalp (A), the back of the scalp (B), left side of the scalp (C) and right side of the scalp (D). The sum of A+B+C+D = SALT score.
4 secondary outcomes
The presence of vellus hairs
Time frame: During 6 months of treatment
Activity of hair loss
Time frame: During 6 months of treatment
Photographic documentation
Time frame: During 6 months of treatment
Side effects
Time frame: During 6 months of treatment
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Apr 2018.
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. This study is not recruiting at the moment.
Liat Samuelov study director
Deprt. of Dermatology, Tel Aviv Sourasky MC
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Gentamicin Sulfate in people with Hereditary Hypotrichosis Simplex, run by Tel-Aviv Sourasky Medical Center.
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 5 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: status not confirmed, as of the sponsor's last update on 10 Apr 2018. Status can change between updates, so confirm with the study contact before making plans.
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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Udi Ben Dor (054-3177030, udibd@tlvmc.gov.il), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Hair density over the scalp (time frame: During 6 months of treatment). 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 10 Apr 2018.