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.
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.
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