A Study to Evaluate the Safety and Efficacy of Afamelanotide in Patients With Xeroderma Pigmentosum (XP)

Study Overview
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Brief Summary
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The CUV156 study will evaluate the safety of afamelanotide in XP-C patients, as well as the drug's ability to assist reparative processes following ultraviolet (UV) provoked DNA damage of the skin. It will assess whether SCENESSE® increases the amount of UV light needed to cause DNA damage of skin cells, as well as the extent of skin repair before and after treatment.

Official Title
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A Proof of Concept, Phase IIa, Open Label Study to Evaluate the Safety and Efficacy of Subcutaneous Implants of Afamelanotide in Patients With Xeroderma Pigmentosum (XP)

Conditions
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Xeroderma Pigmentosum

Intervention / Treatment
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* Drug: Afamelanotide


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Male or female patient with a molecular-genetically confirmed diagnosis of XP-C; Aged 18-75 years. Exclusion Criteria: Known allergy to afamelanotide or the polymer contained in the implant; Presence of severe hepatic disease or hepatic impairment; Renal impairment; Any other medical condition which may interfere with the study protocol; Female who is pregnant (confirmed by positive urine beta-Human chorionic gonadotropin pregnancy test) or lactating; Females of child-bearing potential (pre-menopausal, not surgically sterile) not using highly effective contraceptive measures with a failure rate of less than 1% per year when used consistently and correctly (i.e. oral contraceptives, intrauterine device) or a life-style excluding pregnancy, for up to three months after the last implant administration; Sexually active man with a partner of child-bearing potential (pre-menopausal, not surgically sterile) who is not using highly effective contraceptive measures, as described above; Use of any other prior and concomitant therapy which may interfere with the objective of the study, within 30 days prior to the Screening visit; Participation in a clinical trial for an investigational agent within 30 days prior to the Screening visit.

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 75 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Afamelanotide<br> | Drug: Afamelanotide<br>* Patients will receive afamelanotide every two weeks for twelve weeks and undergo a follow up visit 6 months later.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change in minimal erythema dose (MED). | MED is the lowest dose of UV light that causes reddening of the skin. | From Baseline to Day 76. | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change in UV-induced DNA damage and repair capacity. | Analysis of UV photoproducts and DNA repair mechanisms. | From Baseline to Day 76. | 
| Change in skin disease severity (A). | The higher the score, the more severe the disease. | From Baseline to Day 238. | 
| Change in skin disease severity (B). | The higher the score, the more severe the disease. | From Baseline to Day 238. | 
| Change in skin disease severity (C). | The higher the score, the more severe the disease. | From Baseline to Day 238. | 
| Change in dermal melanin density. | Non-invasive quantitative skin reflectance measurement. | From Baseline to Day 238. | 
| Change in quality of life assessed by a disease specific tool (A) | Higher scores represent worse health-related quality of life. | From Baseline to Day 238. | 
| Change in quality of life assessed by a validated global quality of life tool (B) | Score calculated in impairment percentages, with higher numbers indicating greater impaired quality of life. | From Baseline to Day 238. |