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

NCT03492866 | Unknown Phase 2

• 1 other identifier: TASMC-18-ES-0797-CTIL
• Study Type: interventional
• Target: 8
• Locations: 0 countries
• Sites: N/A

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.

Conditions

Hereditary Hypotrichosis Simplex

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (4)

• The presence of vellus hairs

  During 6 months of treatment

• Activity of hair loss

  During 6 months of treatment

• Photographic documentation

  During 6 months of treatment

• Side effects

  During 6 months of treatment

Study Arms (2)

Gentamicin Sulfate

ACTIVE COMPARATOR

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.

Drug: Gentamicin Sulfate

No treatment

NO INTERVENTION

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

Interventions

Gentamicin Sulfate DRUG

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

Gentamicin Sulfate

Eligibility Criteria

• Age: 18 Years - 120 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Tel-Aviv Sourasky Medical Center: lead

MeSH Terms

Conditions

Hypotrichosis simplex

Interventions

Gentamicins

Intervention Hierarchy (Ancestors)

Aminoglycosides; Glycosides; Carbohydrates

Study Officials

• Liat Samuelov

  Deprt. of Dermatology, Tel Aviv Sourasky MC

  STUDY DIRECTOR

Central Study Contacts

Udi Ben Dor

CONTACT

054-3177030; udibd@tlvmc.gov.il

Orna Dagan

CONTACT

054-4708065; ornad@tlvmc.gov.il

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: CROSSOVER
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Model Details: 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

Study Record Dates

• First Submitted: March 18, 2018
• First Posted: April 10, 2018
• Study Start: April 1, 2018
• Primary Completion: February 1, 2019
• Study Completion: April 1, 2019
• Last Updated: April 10, 2018

Record last verified: 2018-03