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Study Designed to Evaluate Safety and Efficacy of 1% Topical Formulation of KM-001 on Type 1 Punctate Palmoplantar Keratoderma or Pachyonychia Congenita Diseases

Phase 1
Completed
Conditions
Punctate Palmoplantar Keratoderma Type 1
Pachyonychia Congenita
Interventions
Diagnostic Test: Serum chemistry
Diagnostic Test: Hematology
Diagnostic Test: Urinalysis
Diagnostic Test: Physical Examination
Diagnostic Test: Vital Signs
Diagnostic Test: ECG Test
Diagnostic Test: PK
Diagnostic Test: IGA scoring
Drug: KM-001 1% cream 12 weeks treatment
Diagnostic Test: Clinician global impression of severity (CGI-S)
Diagnostic Test: Visual Analogue Scale (VAS)
Diagnostic Test: Patient global impression of change (PGI-C) scoring
Diagnostic Test: Patient global impression of severity (PGI-S) scoring
Diagnostic Test: Lesion photography
Drug: KM-001 1% cream 16 weeks treatment
Registration Number
NCT05435638
Lead Sponsor
Kamari Pharma Ltd
Brief Summary

In this phase 1 open label study for patients with type I punctate palmoplantar keratoderma or pachyonychia congenital, 2 arms will be recruited to be treated twice daily, with 1% topical KM-001.

Arm 1: up to 10 eligible patients will be treated for 12 weeks. Arm 2: up to 8 eligible patients will be treated for 16 weeks.

Treatment safety and efficacy will be assessed in the clinic visits (for arm 1 up to day 91, for arm 2 up to day 126). In between safety will also be assessed by phone visits.

At the in-clinic visits, treatment efficacy (lesion clearance - IGA, CGI-S, PGI-C, PGI-S and VAS pain) will also be assessed.

PK blood samples will be collected for arm 1: on Days 0, 7, 84 (EoT visit). One week after the end of treatment (EoT) visit, patients will return to the clinic for final safety, efficacy and PK evaluations. For arm 2, PK blood samples will be collected on days 0, 7, 84, 112 (EoT visit). Two weeks after the end of treatment (EoT) visit, patients will return to the clinic for final safety, efficacy and PK evaluations.

Detailed Description

The palmoplantar keratoderma (PPK) group of skin disorders results from various mutations in several epidermal genes and is characterized by thickening of the skin on the palms and soles.

Punctate palmoplantar keratoderma (PPKP1) is a rare autosomal, dominant, inherited skin disease characterized by bilateral asymptomatic, tiny, hyperkeratotic punctate papules and plaques on the palmoplantar surface.

Pachyonychia congenita (PC) is a rare group of autosomal dominant skin disorders that are caused by a mutation in one of five different keratin genes. PC is often associated with thickened toenails, plantar keratoderma, and plantar pain. Its manifestations include bilateral PPK on palms and soles pattern with sharp margins and a yellow tone.

A common characteristic of these skin diseases is the impaired differentiation of keratinocytes, often caused by defective calcium homeostasis. Normal calcium homeostasis is regulated by calcium ion channels, including the transient receptor potential cation channel subfamily V, member 3 (TRPV3), which has been implicated in regulation of keratinocyte proliferation, differentiation, and apoptosis. As a result, it has been suggested as a drug target for a variety of dermatological conditions and itch. It has therefore been suggested that inhibition of TRPV3 by specific antagonists can address the above-mentioned conditions.KM-001, developed by Kamari Pharma, is a potent and selective TRPV3 antagonist. Kamari has demonstrated that KM-001 reduces Ca+2flux in keratinocytes and decreases cell proliferation accompanied by normalization of keratinocyte differentiation markers. Efficacy was demonstrated in in vivo studies, using the DS-Nh mice model, where it was able to normalize epidermal hyperkeratosis. In addition, the compound significantly reduced pruritus which is characteristic of this model and of many types of PPK.

KM-001 topical formulation demonstrates favorable safety profile in rodents and minipigs and significant efficacy in animal models.

Recruitment & Eligibility

Status
COMPLETED
Sex
All
Target Recruitment
14
Inclusion Criteria
  1. Read, understood and signed an informed consent form (ICF) before any investigational procedure(s) are performed.

  2. Male or female and aged 18 - 75 years at the time of screening

  3. Clinical diagnosis of:

    punctate keratoderma type I disease with confirmed heterozygous mutation in AAGAB gene OR pachyonychia congenita with confirmed heterozygous mutation in either KRT16, KRT17, KRT6A, KRT6B or KRT6C mutations.

  4. The target treatment region is 0.5%-4% body surface area (BSA) including target lesions

  5. CGI-S score of ≥2 (as assessed by the PI at screening).

  6. Female patients of childbearing potential must agree to use a highly effective and approved method of contraception throughout the study and for 4 weeks after the last study drug administration. Male patients: female partners of male patients must use a reliable method of contraception during this study, and for 12 weeks after the last dose of study medications.

  7. Female patients must refrain from donating eggs throughout the study and for 4 weeks after the last study drug administration. Male patients must refrain from sperm donation throughout the study and for 12 weeks after the last study drug administration.

  8. Female patients of non-childbearing potential must meet one of the following criteria:

    • Absence of menstrual bleeding for 1 year prior to screening without any other medical reason.
    • Documented hysterectomy or bilateral oophorectomy at least 3 months before the study.
  9. Patient is willing and able to comply with all time commitments and procedural requirements of the clinical study protocol.

Exclusion Criteria
  1. Known hypersensitivity or any suspected cross-allergy to the active pharmaceutical ingredient and/or excipients.

  2. Regular alcohol consumption for males >21 units per week and for females >14 units per week (1 unit = 8gr of alcohol; e.g., 200 mL of 5% beer, 25 mL of 40% spirits or 125 mL of 8% wine).

  3. Any medical or active psychological condition or any clinically relevant laboratory abnormalities, such as, but not limited, to elevated ALT or AST (>3 × upper limit of normal [ULN]) in combination with elevated bilirubin (>2 × ULN), at screening/ baseline that may put the patient at significant risk according to the investigator's judgment, if he/she participates in the clinical study, or may interfere with study assessments (e.g., poor venous access or needle-phobia).

  4. Planned or expected major surgical procedure during the clinical study.

  5. Patient is unwilling to refrain from using prohibited medications during the clinical study.

  6. Currently participating or participated in any other clinical study of a drug or device, within the past 4 months before screening, or is in an exclusion period (if verifiable) from a previous study.

    Note: patients who have participated in Cohort 1 of this study may be enrolled to Cohort 2 after a minimum of 4 weeks from last KM-001 dose.

  7. Cutaneous infection or another active underlying skin condition, regardless of location.

  8. Cutaneous infection of the area to be applied with KM-001, requiring treatment with oral or parenteral antibiotics, antivirals, antiparasitics or antifungals, or any topical treatments during and/or up-to 2 weeks before screening.

  9. Pregnant or breastfeeding.

  10. Failure to convince the investigator of fitness to participate in the study for any other reason.

  11. Having received any of the prohibited treatments in Table 4 (Section 5.8) within the specified timeframe before baseline.

Study & Design

Study Type
INTERVENTIONAL
Study Design
SEQUENTIAL
Arm && Interventions
GroupInterventionDescription
KM-001 1% cream 12 weeks treatmentVital SignsKM-001 1% cream will be applied to the affected area, twice daily for 12 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 12 weeks treatmentSerum chemistryKM-001 1% cream will be applied to the affected area, twice daily for 12 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 12 weeks treatmentPKKM-001 1% cream will be applied to the affected area, twice daily for 12 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 12 weeks treatmentHematologyKM-001 1% cream will be applied to the affected area, twice daily for 12 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 12 weeks treatmentIGA scoringKM-001 1% cream will be applied to the affected area, twice daily for 12 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 12 weeks treatmentClinician global impression of severity (CGI-S)KM-001 1% cream will be applied to the affected area, twice daily for 12 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 12 weeks treatmentPatient global impression of change (PGI-C) scoringKM-001 1% cream will be applied to the affected area, twice daily for 12 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 12 weeks treatmentPhysical ExaminationKM-001 1% cream will be applied to the affected area, twice daily for 12 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 12 weeks treatmentLesion photographyKM-001 1% cream will be applied to the affected area, twice daily for 12 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 16 weeks treatmentSerum chemistryKM-001 1% cream will be applied to the affected area, twice daily for 16 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 16 weeks treatmentUrinalysisKM-001 1% cream will be applied to the affected area, twice daily for 16 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 12 weeks treatmentUrinalysisKM-001 1% cream will be applied to the affected area, twice daily for 12 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 16 weeks treatmentIGA scoringKM-001 1% cream will be applied to the affected area, twice daily for 16 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 12 weeks treatmentECG TestKM-001 1% cream will be applied to the affected area, twice daily for 12 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 12 weeks treatmentKM-001 1% cream 12 weeks treatmentKM-001 1% cream will be applied to the affected area, twice daily for 12 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 12 weeks treatmentVisual Analogue Scale (VAS)KM-001 1% cream will be applied to the affected area, twice daily for 12 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 16 weeks treatmentHematologyKM-001 1% cream will be applied to the affected area, twice daily for 16 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 16 weeks treatmentPhysical ExaminationKM-001 1% cream will be applied to the affected area, twice daily for 16 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 16 weeks treatmentECG TestKM-001 1% cream will be applied to the affected area, twice daily for 16 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 12 weeks treatmentPatient global impression of severity (PGI-S) scoringKM-001 1% cream will be applied to the affected area, twice daily for 12 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 16 weeks treatmentPatient global impression of change (PGI-C) scoringKM-001 1% cream will be applied to the affected area, twice daily for 16 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 16 weeks treatmentPatient global impression of severity (PGI-S) scoringKM-001 1% cream will be applied to the affected area, twice daily for 16 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 16 weeks treatmentVital SignsKM-001 1% cream will be applied to the affected area, twice daily for 16 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 16 weeks treatmentPKKM-001 1% cream will be applied to the affected area, twice daily for 16 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 16 weeks treatmentClinician global impression of severity (CGI-S)KM-001 1% cream will be applied to the affected area, twice daily for 16 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 16 weeks treatmentVisual Analogue Scale (VAS)KM-001 1% cream will be applied to the affected area, twice daily for 16 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 16 weeks treatmentLesion photographyKM-001 1% cream will be applied to the affected area, twice daily for 16 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
KM-001 1% cream 16 weeks treatmentKM-001 1% cream 16 weeks treatmentKM-001 1% cream will be applied to the affected area, twice daily for 16 consecutive weeks. KM-001 will be supplied in glass jars (30 g) and will be provided to patients with spatulas and polyethylene gloves.
Primary Outcome Measures
NameTimeMethod
Safety endpoint-will be assessed through collection and analysis of urine laboratory tesup to 91 days for arm 1 and 126 days for arm 2

Data management team will assess and review the lab test results (urine), assessment will be compared to the normal range. Exceptional values above the norm or below the norm indicate an aggravation of the participant's condition

Safety endpoint-Vital signs- Heart rateup to 91 days for arm 1 and 126 days for arm 2

Vital signs (resting heart rate, systolic and diastolic blood pressure) will be assesed and the changes from the baseline.

units: BPM (beats per minute) Data management team will assess and review the vital signs. The category of the assessments will be compared to the normal ranges. Exceptional values above the norm or below the norm indicate an aggravation of the participant's condition

Safety endpoint will be assessed through collection and analysis of adverse eventsup to 91 days for arm 1 and 126 days for arm 2

Incidence of treatment-emergent adverse events (AEs) and serious adverse events (SAEs) grouped by body system will assessed.

Safety endpoint-will be assessed through collection and analysis of blood laboratory tests.up to 91 days for arm 1 and 126 days for arm 2

Data management team will assess and review the lab test results (blood), assessment will be compared to the normal range. Exceptional values above the norm or below the norm indicate an aggravation of the participant's condition

Safety endpoint-ECGup to 91 days for arm 1 and 126 days for arm 2

A 12-lead, resting, digital ECG will be taken for each participant at Screening and on Days 42 and 84, after the patient has been supine for at least 5 min. At minimum, the following ECG parameters will be recorded: heart rate (HR), PR, QT and QRS intervals and QTC. Resting ECG parameter and changes from baseline will be assesed

Safety endpoint-Vital signs- Blood Pressureup to 91 days for arm 1 and 126 days for arm 2

Vital signs (resting heart rate, systolic and diastolic blood pressure) will be assesed and the changes from the baseline.

units:blood pressure \[mm Hg\]. Data management team will assess and review the vital signs. The category of the assessments will be compared to the normal ranges. Exceptional values above the norm or below the norm indicate an aggravation of the participant's condition

Safety endpoint- Lesion Assessmentup to 91 days for arm 1 and 126 days for arm 2

Lesions severity will be assessed using the Investigator's Global Assessment (IGA) scale, which is a 5-point scale (from 0 ="no disease" to 4="severe disease").

Secondary Outcome Measures
NameTimeMethod
Efficacy endpoint- Patient Global Impression of Change scoringup to 84 days for arm 1 and 112 days for arm 2

Mean score of Patient Global Impression of Change (PGI-C) on each post baseline in-clinic visit.

The PGI-C will be evaluated using a 7-point scale from 1 (very much improved) to 7 (very much worse) answering the question Since the start of the trial, my overall status has.

Pharmacokinetic profile of the study drug- Time to reach Cmax - Tmaxup to 91 days for arm 1 and 126 days for arm 2

Tmax measurement (h)

Efficacy endpoint- Patient Global Impression of Severity scoringup to 84 days for arm 1 and 112 days for arm 2

Mean change from baseline in Patient Global Impression of Severity (PGI-S) to each post baseline in-clinic visit.

The PGI-S will be evaluated using a 5-point scale from 1 (none) to 5 (very severe) answering the question Please rate the severity of your disease right now.

Pharmacokinetic profile of the study drug- maximal concentartion- Cmaxup to 91 days for arm 1 and 126 days for arm 2

CMAX measurement (mg/ml)

Efficacy endpoint- Investigator's Global Impression (IGA) score.up to 84 days for arm 1 and 112 days for arm 2

Effect of the treatment on target lesions, as assessed by change from baseline to each post baseline in-clinic visit in Investigator's Global Impression (IGA) score.

Lesions severity will be assessed using the Investigator's Global Assessment (IGA) scale, which is a 5-point scale (from 0 ="no disease" to 4="severe disease") based on Simpson et al. 2020, IGA for atopic dermatitis (see Table 4; Simpson et al. 2020).

The IGA score is selected using the descriptors below that best describe the overall appearance of the lesions at a given timepoint. It is not necessary that all characteristics under morphological description are present. Excoriations should not be considered when assessing disease severity.

Pharmacokinetic profile of the study drug- AUCup to 91 days for arm 1 and 126 days for arm 2

AUC measurement (mg\*h/L)

Efficacy endpoint- Visual Analogue Scaleup to 84 days for arm 1 and 112 days for arm 2

Mean change from baseline in pain, assessed by Visual Analogue Scale (VAS) score, to each post baseline in-clinic visit.

The following parameter will be evaluated on a VAS from 0 (no pain) to 100 (severe intolerable pain) based on the question: "How was your worst pain intensity in the past 24 hours?"

Trial Locations

Locations (3)

Soroka Medical Center

🇮🇱

Beer-Sheva, Israel

Rabin Medical Center (Beilinson, Hasharon)

🇮🇱

Petah Tikva, Israel

Sourasky Medical Center - Ichilov Hospital

🇮🇱

Tel Aviv, Israel

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