E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
Patients with Xeroderma Pigmentosum C and V |
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E.1.1.1 | Medical condition in easily understood language |
Patients with Xeroderma Pigmentosum C and V |
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E.1.1.2 | Therapeutic area | Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] |
MedDRA Classification |
E.1.3 | Condition being studied is a rare disease | Yes |
E.2 Objective of the trial |
E.2.1 | Main objective of the trial |
•Evaluate the impact of afamelanotide on minimal erythema dose (MED) in patients with XPC •Evaluate the impact of afamelanotide on MED in patients with XPV.
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E.2.2 | Secondary objectives of the trial |
•Evaluate the impact of afamelanotide on UV-induced DNA damage and repair capacity in patients with XPC. •Evaluate the impact of afamelanotide on UV-induced DNA damage and repair capacity in patients with XPV. •Evaluate the impact of afamelanotide on melanin density in patients with XPC. •Evaluate the impact of afamelanotide on melanin density in patients with XPV. •Evaluate the safety and tolerability of afamelanotide in patients with XP. •Evaluate the impact of afamelanotide on the skin disease severity of patients with XPC. •Evaluate the impact of afamelanotide on the skin disease severity of patients with XPV. •Evaluate the impact of afamelanotide on the quality of life of patients with XPC. •Evaluate the impact of afamelanotide on the quality of life of patients with XPV |
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E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria |
-Male or female patient with a molecular-genetically confirmed diagnosis of XPC or XPV. -Aged 18-75 years. -Providing written Informed Consent prior to the performance of any study-specific procedure. -Willing and able to comply with the conditions specified in the protocol and study procedures, in the opinion of the Investigator.
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E.4 | Principal 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; •Existing melanoma; •Female who is pregnant (confirmed by positive urine β-HCG pregnancy test) or lactating; •Females of child-bearing potential (pre-menopausal, not surgically sterile) not using adequate contraceptive measures (i.e. oral contraceptives, diaphragm plus spermicide, 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 adequate 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; •Not suitable for trial participation in the opinion of the Investigator.
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E.5 End points |
E.5.1 | Primary end point(s) |
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E.5.1.1 | Timepoint(s) of evaluation of this end point |
Analysis will compare the individual fold increase in MED from Day 0 to the post-treatment assessment at Day 76. |
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E.5.2 | Secondary end point(s) |
•The changes in UV-induced DNA damage and repair capacity from baseline to Day 76, as measured through analysis of UV photoproducts and DNA repair mechanisms on irradiated skin in comparison with non-irradiated skin; •The change in skin disease severity from baseline to Day 70, Day 75 or 76 or Premature Termination Visit (if applicable) and Day 238(±14) as measured by: 5-point IGA scale; 11-point Likert-type scale. •The change in (skin) disease severity from baseline to Day 75 or 76 or Premature Termination Visit (if applicable) and Day 238(±14) as measured by the European XP severity score. •The change in melanin density from baseline to Days 28, 56, 75 or 76 or Premature Termination Visit (if applicable) and Day 238(±14) as measured by spectrophotometry. •The change in Quality of Life from baseline to Days 70, 75 or 76 or Premature Termination Visit (if applicable) and Day 238(±14), as measured by the two instruments: WPAI:GH; XP-derived QOLEB.
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E.5.2.1 | Timepoint(s) of evaluation of this end point |
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E.6 and E.7 Scope of the trial |
E.6 | Scope of the trial |
E.6.1 | Diagnosis | No |
E.6.2 | Prophylaxis | No |
E.6.3 | Therapy | Yes |
E.6.4 | Safety | Yes |
E.6.5 | Efficacy | Yes |
E.6.6 | Pharmacokinetic | No |
E.6.7 | Pharmacodynamic | No |
E.6.8 | Bioequivalence | No |
E.6.9 | Dose response | No |
E.6.10 | Pharmacogenetic | No |
E.6.11 | Pharmacogenomic | No |
E.6.12 | Pharmacoeconomic | No |
E.6.13 | Others | No |
E.7 | Trial type and phase |
E.7.1 | Human pharmacology (Phase I) | No |
E.7.1.1 | First administration to humans | No |
E.7.1.2 | Bioequivalence study | No |
E.7.1.3 | Other | No |
E.7.1.3.1 | Other trial type description | |
E.7.2 | Therapeutic exploratory (Phase II) | Yes |
E.7.3 | Therapeutic confirmatory (Phase III) | No |
E.7.4 | Therapeutic use (Phase IV) | No |
E.8 Design of the trial |
E.8.1 | Controlled | No |
E.8.1.1 | Randomised | No |
E.8.1.2 | Open | Yes |
E.8.1.3 | Single blind | No |
E.8.1.4 | Double blind | No |
E.8.1.5 | Parallel group | No |
E.8.1.6 | Cross over | No |
E.8.1.7 | Other | No |
E.8.2 | Comparator of controlled trial |
E.8.2.1 | Other medicinal product(s) | No |
E.8.2.2 | Placebo | No |
E.8.2.3 | Other | No |
E.8.3 |
The trial involves single site in the Member State concerned
| Yes |
E.8.4 | The trial involves multiple sites in the Member State concerned | No |
E.8.5 | The trial involves multiple Member States | Yes |
E.8.5.1 | Number of sites anticipated in the EEA | 3 |
E.8.6 Trial involving sites outside the EEA |
E.8.6.1 | Trial being conducted both within and outside the EEA | No |
E.8.6.2 | Trial being conducted completely outside of the EEA | No |
E.8.7 | Trial has a data monitoring committee | No |
E.8.8 |
Definition of the end of the trial and justification where it is not the last
visit of the last subject undergoing the trial
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E.8.9 Initial estimate of the duration of the trial |
E.8.9.1 | In the Member State concerned years | |
E.8.9.1 | In the Member State concerned months | 8 |
E.8.9.1 | In the Member State concerned days | |
E.8.9.2 | In all countries concerned by the trial months | 8 |