Study to Evaluate the Safety and Efficacy of Afamelanotide in Patients With Variegate Porphyria (VP)

Study Overview
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Brief Summary
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The primary objective is to evaluate the impact of afamelanotide on the severity of skin disease in patients with Variegate Porphyria (VP). The secondary objectives are to evaluate the safety and tolerability of afamelanotide in patients with VP and evaluate the impact of afamelanotide on the quality of life of patients with VP.

Official Title
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Proof of Concept, Phase IIa, Open Label Study to Evaluate the Safety and Efficacy of Afamelanotide in Patients With Variegate Porphyria (VP)-Related Skin Disease.

Conditions
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Variegate Porphyria

Intervention / Treatment
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* Drug: Afamelanotide 16 MG


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Male or female patients with confirmed diagnosis of VP. Patients with VP-related skin symptoms. Aged 18-70 years. Exclusion Criteria: Allergy to afamelanotide or polymer or to local anaesthetic to be used if applicable. Had two or more acute attacks of hepatic porphyria, as defined by the occurrence or acute porphyric symptoms within 12 months prior to the Screening period. Individual history of malignant or premalignant skin lesions. Individual or family history of melanoma. Presence of severe hepatic disease. Renal impairment. Female who is pregnant or lactating. Females of child-bearing potential not using adequate contraceptive or a life-style excluding pregnancy. Sexually active man with a partner of child-bearing potential not using adequate contraceptive measures. Use of any other prior and concomitant therapy which may interfere with the objective of the study, within 30 days prior to the Screening period. Participation in a clinical trial within 30 days prior to the Screening period.

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 70 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 16 MG<br>* Eligible patients will receive one dose of afamelanotide 16mg every 28 days (up to six doses), as a controlled-release formulation.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| The change in disease severity in patients with VP as measured by a scoring system (A). | The higher the score, the less severe the disease | From baseline to Day 168 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| The change in disease severity in patients with VP as measured by a scoring system (B). | The higher the score, the more severe the disease | From baseline to Day 168 | 
| The change in disease severity in patients with VP as measured by a scoring system (C) | The higher the score, the more severe the disease | From baseline to Day 168 | 
| The change in disease severity in patients with VP as measured by a scoring system (D) | The higher the score, the less severe the disease | From baseline to Day 168 | 
| The change in disease severity in patients with VP as measured by a scoring system (E) | The higher the score, the more severe the disease | From baseline to Day 168 | 
| The change in number of new skin lesions formed | The higher the number of new lesions, the more severe the disease | From baseline to Day 168 | 
| The change in the Quality of Life in patients with VP as measured by a validated global quality of life tool (A) | Score calculated in impairment percentages, with higher numbers indicating greater impaired quality of life | From baseline to Day 168 | 
| The change in the Quality of Life in patients with VP as measured by a disease specific tool (B) | Higher scores represent worse health-related quality of life | From baseline to Day 168 | 
| The change in the Quality of Life in patients with VP as measured by a disease specific questionnaire (C) | Higher scores indicate a better quality of life | From baseline to Day 168 | 
| The change in outdoor light exposure over time (Daily Diary) | Daily diaries recording outdoor light exposure and trauma events | From baseline to Day 168 |