Hereditary Hypotrichosis Simplex Clinical Trial
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.
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.
| Status | Not yet recruiting |
| Enrollment | 8 |
| Est. completion date | April 2019 |
| Est. primary completion date | February 2019 |
| Accepts healthy volunteers | No |
| Gender | All |
| Age group | 18 Years to 120 Years |
| Eligibility |
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 |
| Country | Name | City | State |
|---|---|---|---|
| n/a | |||
| Lead Sponsor | Collaborator |
|---|---|
| Tel-Aviv Sourasky Medical Center |
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | 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. | During 6 months of treatment | |
| Secondary | 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 | During 6 months of treatment | |
| Secondary | 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 | During 6 months of treatment | |
| Secondary | Photographic documentation | Pictures of the scalp will be taken to illustrate Gentamycin effect | During 6 months of treatment | |
| Secondary | Side effects | Patients will be asked if they experienced side effects of topical Gentamycin treatment: local site reactions such as erythema, , irritation, dryness | During 6 months of treatment |