QRX003 Lotion for Netherton Syndrome

Overseen By Oleg G Khatsenko

Age: Any Age

Sex: Any

Trial Phase: Phase 2 & 3

Sponsor: Quoin Pharmaceuticals

Must be taking: Topical therapy

Must not be taking: Topical steroids

Disqualifiers: Pregnancy, Active cancer, Diabetes, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Prior Safety Data This treatment has passed at least one previous human trial

Compensation: Varies

Number of Visits: 4

Duration: 12 weeks

8 Participants Needed

Trial Summary

What is the purpose of this trial?

The goal of this clinical trial (via an expanded access Treatment Protocol) is to learn if QRX003 (an investigational drug) applied topically to the skin (including up to the entire body \[except the scalp\]) works to treat the genetic disease Netherton syndrome. It will also learn about the safety of QRX003. The main questions the trial aims to answer are: 1. Does QRX003 impact the clinical presentation of NS in adults and minors by improving the clinical symptoms (diseased skin area, itch, and discomfort; based on clinical scoring, subject self-assessment, and other criteria)? 2. What medical problems do participants have when taking QRX003? 3. What percent of subjects will require rescue therapy? Participants will: Take drug QRX003 twice daily (applied topically to all affected areas of the body excluding the scalp) for 3 months, visit the clinic once every 4-6 weeks for checkups and tests, and to keep a dosing diary that records the times they applied the drug.

Will I have to stop taking my current medications?

The trial requires that you stay on a stable treatment regimen, including any topical therapy for Netherton Syndrome, before and during the study. However, you must not have used certain treatments like topical steroids or ultraviolet phototherapy in the treatment area within 10 weeks before starting the trial.

Is QRX003 Lotion safe for humans?

There is no specific safety data available for QRX003 Lotion, but other treatments for Netherton Syndrome, like biological therapies and dupilumab, have shown no severe side effects in small studies. More research is needed to confirm safety in larger groups. ^{1 2 3 4 5}

Eligibility Criteria

This trial is for individuals with Netherton Syndrome, a genetic skin condition. Participants will apply QRX003 lotion twice daily to affected areas (not the scalp) for three months and attend clinic visits every 4-6 weeks.

Inclusion Criteria

I am at least 14 years old and not pregnant.

I am a woman not able to have children, using birth control, or post-menopausal.

I am on a steady treatment plan for my skin condition that will not change during the study.

Exclusion Criteria

I have diabetes, but it's not the type that's controlled without insulin.

I have active cancer, not including non-melanoma skin cancer, outside the treatment area.

I don't have skin conditions in the treatment area that need other treatments.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Participants apply QRX003 lotion twice daily to affected areas for 3 months

12 weeks

Clinic visits every 4-6 weeks

Follow-up

Participants are monitored for safety and effectiveness after treatment

4 weeks

Treatment Details

Interventions

• QRX003

Trial Overview The study tests if QRX003 lotion can improve symptoms of Netherton Syndrome such as diseased skin area, itchiness, and discomfort. It also evaluates safety and whether participants need additional rescue therapy.

Participant Groups

Group I: QRX003, 4% BID Experimental Treatment 1 Intervention

Subjects will apply test article twice daily (BID) for 12 weeks

Who Is Running the Clinical Trial?

Quoin Pharmaceuticals

Lead Sponsor

Trials

2

Recruited

50+

Findings from Research

An 11-year-old boy with Netherton syndrome developed Cushing syndrome after using 1% hydrocortisone ointment over his entire body for more than a year, highlighting the risks of systemic absorption in patients with compromised skin barrier function.

This case emphasizes the need for caution when using even low-potency topical steroids in Netherton syndrome, as long-term use in large quantities can lead to significant systemic side effects.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Cushing syndrome from percutaneous absorption of 1% hydrocortisone ointment in Netherton syndrome. Halverstam, CP., Vachharajani, A., Mallory, SB.[2017]

A new human induced pluripotent stem cell (iPSC) line has been created from urine-derived cells of a patient with Netherton syndrome, which is caused by mutations in the SPINK5 gene.

This iPSC line can be used as a valuable research model to study the disease's pathogenesis and explore potential therapies for the severe skin barrier damage associated with Netherton syndrome.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Establishment of an induced pluripotent stem cell line (SAHGMUi001-A) from a patient with Netherton syndrome carrying SPINK5 mutation. Xu, M., Wang, L., Yin, J., et al.[2021]

A case of Netherton syndrome (NS), a rare genetic disorder caused by mutations in the SPINK5 gene, was confirmed through whole exome sequencing, identifying two new mutations from the patient's parents.

The patient showed significant clinical improvement after treatment with dupilumab, a medication typically used for other conditions, with no reported adverse effects, suggesting potential for dupilumab as a safe therapeutic option for NS.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Successful treatment of Netherton syndrome with dupilumab: A case report and review of the literature. Wang, J., Yu, L., Zhang, S., et al.[2022]

References

1. United States pubmed.ncbi.nlm.nih.gov

Cushing syndrome from percutaneous absorption of 1% hydrocortisone ointment in Netherton syndrome. [2017]

2. England pubmed.ncbi.nlm.nih.gov

Establishment of an induced pluripotent stem cell line (SAHGMUi001-A) from a patient with Netherton syndrome carrying SPINK5 mutation. [2021]

3. Switzerland pubmed.ncbi.nlm.nih.gov

Biological treatments for pediatric Netherton syndrome. [2023]

4. England pubmed.ncbi.nlm.nih.gov

Successful treatment of Netherton syndrome with dupilumab: A case report and review of the literature. [2022]

5. England pubmed.ncbi.nlm.nih.gov

Prevalence of and risk factors for nutritional deficiency and food allergy in a cohort of 21 patients with Netherton syndrome. [2023]