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

• Status: Unknown status
• Trial end date: 2019-04-01
• Target enrollment: 0
• Participant gender: All

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.

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Tel-Aviv Sourasky Medical Center
• Treatments: Gentamicins

Criteria

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