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

NCT03492866 · Status: UNKNOWN · Phase: PHASE2 · Type: INTERVENTIONAL · Enrollment: 8

Last updated 2018-04-10

No results posted yet for this study

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.

Conditions

  • Hereditary Hypotrichosis Simplex

Interventions

DRUG

Gentamicin Sulfate

Topical treatment of 1 side of the scalp twice daily during 6 months

Sponsors & Collaborators

  • Tel-Aviv Sourasky Medical Center

    lead OTHER_GOV

Principal Investigators

  • Liat Samuelov · Deprt. of Dermatology, Tel Aviv Sourasky MC

Study Design

Allocation
NON_RANDOMIZED
Purpose
TREATMENT
Masking
NONE
Model
CROSSOVER

Eligibility

Min Age
18 Years
Max Age
120 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-04-30
Primary Completion
2019-02-28
Completion
2019-04-30

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03492866 on ClinicalTrials.gov