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Efficacy of Topical Gentamycin for Hereditary Hypotrichosis Simplex Caused by Nonsense Mutations in CDSN

Primary Purpose

Hereditary Hypotrichosis Simplex

Status
Unknown status
Phase
Phase 2
Locations
Study Type
Interventional
Intervention
Gentamicin Sulfate
Sponsored by
Tel-Aviv Sourasky Medical Center
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional treatment trial for Hereditary Hypotrichosis Simplex

Eligibility Criteria

18 Years - 120 Years (Adult, Older Adult)All SexesDoes not accept healthy volunteers

Inclusion Criteria:

  1. Patients with hypotrichosis simplex of the scalp carrying a nonsense heterozygous mutation in the CDSN gene
  2. Patients 18 years of age or older
  3. Patient with normal hearing assessment within 30 days prior to treatment with the investigational drug
  4. Patients with normal liver and renal function

Exclusion Criteria:

  1. Patients with Hypotrichosis simplex of the scalp with no identified mutation in CDSN
  2. Patients under 18 years of age
  3. Patients with known hearing loss and renal and liver insufficiency
  4. Patients with impaired skin barrier over the scalp such as bruise, ulcer, erosion etc.
  5. Pregnancy and breastfeeding

Sites / Locations

    Arms of the Study

    Arm 1

    Arm 2

    Arm Type

    Active Comparator

    No Intervention

    Arm Label

    Gentamicin Sulfate

    No treatment

    Arm Description

    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.

    The medication won't be applied to the left half of the scalp.

    Outcomes

    Primary Outcome Measures

    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.

    Secondary Outcome Measures

    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
    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
    Photographic documentation
    Pictures of the scalp will be taken to illustrate Gentamycin effect
    Side effects
    Patients will be asked if they experienced side effects of topical Gentamycin treatment: local site reactions such as erythema, , irritation, dryness

    Full Information

    First Posted
    March 18, 2018
    Last Updated
    April 8, 2018
    Sponsor
    Tel-Aviv Sourasky Medical Center
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    1. Study Identification

    Unique Protocol Identification Number
    NCT03492866
    Brief Title
    Efficacy of Topical Gentamycin for Hereditary Hypotrichosis Simplex Caused by Nonsense Mutations in CDSN
    Official Title
    The Efficacy of Topical Gentamycin for the Treatment of Hereditary Hypotrichosis Simplex Caused by Heterozygous Nonsense Mutations in CDSN Encoding Corneodesmosin
    Study Type
    Interventional

    2. Study Status

    Record Verification Date
    March 2018
    Overall Recruitment Status
    Unknown status
    Study Start Date
    April 2018 (Anticipated)
    Primary Completion Date
    February 2019 (Anticipated)
    Study Completion Date
    April 2019 (Anticipated)

    3. Sponsor/Collaborators

    Responsible Party, by Official Title
    Sponsor
    Name of the Sponsor
    Tel-Aviv Sourasky Medical Center

    4. Oversight

    Studies a U.S. FDA-regulated Drug Product
    No
    Studies a U.S. FDA-regulated Device Product
    No
    Data Monitoring Committee
    No

    5. Study Description

    Brief 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). 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.

    6. Conditions and Keywords

    Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
    Hereditary Hypotrichosis Simplex

    7. Study Design

    Primary Purpose
    Treatment
    Study Phase
    Phase 2
    Interventional Study Model
    Crossover Assignment
    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)
    Allocation
    Non-Randomized
    Enrollment
    8 (Anticipated)

    8. Arms, Groups, and Interventions

    Arm Title
    Gentamicin Sulfate
    Arm Type
    Active Comparator
    Arm Description
    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.
    Arm Title
    No treatment
    Arm Type
    No Intervention
    Arm Description
    The medication won't be applied to the left half of the scalp.
    Intervention Type
    Drug
    Intervention Name(s)
    Gentamicin Sulfate
    Intervention Description
    Topical treatment of 1 side of the scalp twice daily during 6 months
    Primary Outcome Measure Information:
    Title
    Hair density over the scalp
    Description
    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.
    Time Frame
    During 6 months of treatment
    Secondary Outcome Measure Information:
    Title
    The presence of vellus hairs
    Description
    The appearance of vellus hair on the treated half scalp versus the untreated half scalp is a qualitative measure for Gentamycin efficacy
    Time Frame
    During 6 months of treatment
    Title
    Activity of hair loss
    Description
    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
    Time Frame
    During 6 months of treatment
    Title
    Photographic documentation
    Description
    Pictures of the scalp will be taken to illustrate Gentamycin effect
    Time Frame
    During 6 months of treatment
    Title
    Side effects
    Description
    Patients will be asked if they experienced side effects of topical Gentamycin treatment: local site reactions such as erythema, , irritation, dryness
    Time Frame
    During 6 months of treatment

    10. Eligibility

    Sex
    All
    Minimum Age & Unit of Time
    18 Years
    Maximum Age & Unit of Time
    120 Years
    Accepts Healthy Volunteers
    No
    Eligibility Criteria
    Inclusion Criteria: 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 Exclusion Criteria: 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
    Central Contact Person:
    First Name & Middle Initial & Last Name or Official Title & Degree
    Udi Ben Dor
    Phone
    054-3177030
    Email
    udibd@tlvmc.gov.il
    First Name & Middle Initial & Last Name or Official Title & Degree
    Orna Dagan
    Phone
    054-4708065
    Email
    ornad@tlvmc.gov.il
    Overall Study Officials:
    First Name & Middle Initial & Last Name & Degree
    Liat Samuelov
    Organizational Affiliation
    Deprt. of Dermatology, Tel Aviv Sourasky MC
    Official's Role
    Study Director

    12. IPD Sharing Statement

    Learn more about this trial

    Efficacy of Topical Gentamycin for Hereditary Hypotrichosis Simplex Caused by Nonsense Mutations in CDSN

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