Variegate Porphyria
Conditions
Brief summary
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.
Interventions
DRUGAfamelanotide 16 MG
Eligible patients will receive one dose of afamelanotide 16mg every 28 days (up to six doses), as a controlled-release formulation.
Sponsors
Clinuvel Pharmaceuticals Limited
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to 70 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| The Change in Disease Severity in Patients With VP as Measured by CGIC. | From baseline to Day 168 | The higher the score, the less severe the disease. Scale ranges from +3 to -3. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| The Change in Disease Severity in Patients With VP as Measured by 11-point VAS IGA. | Median change from baseline to Day 168. | A lower score indicates a reduced severity of the disease.Scale ranges from 0 to 10. |
| The Change in Disease Severity in Patients With VP as Measured by 5-point IGA. | Median change from baseline to Day 168 | A lower score indicates a reduced severity of the disease. Scale ranges from 0 to 4. |
| The Change in Disease Severity in Patients With VP as Measured by PGIC. | Median change from baseline to Day 168 | The higher the score, the less severe the disease. Score ranges from +3 to -3. |
| The Change in Disease Severity in Patients With VP as Measured by PGA Using VAS. | Median change from baseline to Day 168 | A lower score indicates a reduced severity of the disease. Scale ranges from 0 to 10. |
| The Change in Number of New Skin Lesions Formed. | Median change from baseline to Day 168. | A lower number indicates a reduced severity of the disease. |
| The Change in the Quality of Life in Patients With VP as Measured by WPAI:GH. | Median of change from baseline to Day 168 | Higher score indicates greater impairment and less productivity. Score is percentage impairment. |
| The Change in the Quality of Life in Patients With VP as Measured by VP-derived QOLEB. | From baseline to Day 168 | Higher scores represent worse health-related quality of life. Scale ranges from 0 to 45. |
| The Change in the Quality of Life in Patients With VP as Measured by VP QoL. | Assessed at baseline and Day 168 to reflect retrospective changes over the previous 12 months. | Quality of life measured by the number of responses of much better than a year ago to the question How would you judge the condition of your skin of your face and hands today, in comparison to the situation last year (12 months ago)? |
| The Change in Outdoor Light Exposure Over Time (Daily Diary) | From baseline to Day 168. | Daily diaries recording outdoor light exposure. |
Countries
Netherlands
Participant flow
Participants by arm
| Arm | Count |
|---|---|
| SCENESSE® (Afamelanotide 16mg) Six eligible patients received one dose of afamelanotide 16mg every 28 days, 6 doses in total, as a controlled-release formulation. | 6 |
| Total | 6 |
Baseline characteristics
| Characteristic | SCENESSE® (Afamelanotide 16mg) |
|---|---|
| Age, Categorical <=18 years | 0 Participants |
| Age, Categorical >=65 years | 1 Participants |
| Age, Categorical Between 18 and 65 years | 5 Participants |
| Confirmed diagnosis of Varigate Porphyria | 6 Participants |
| Race/Ethnicity, Customized Race Asian | 1 Participants |
| Race/Ethnicity, Customized Race White (Hispanic, Latino or Spanish) | 1 Participants |
| Race/Ethnicity, Customized Race White (non-Hispanic, Latino or Spanish) | 4 Participants |
| Sex: Female, Male Female | 5 Participants |
| Sex: Female, Male Male | 1 Participants |
Adverse events
| Event type | EG000 affected / at risk |
|---|---|
| deaths Total, all-cause mortality | 0 / 6 |
| other Total, other adverse events | 4 / 6 |
| serious Total, serious adverse events | 0 / 6 |
Outcome results
Primary
The Change in Disease Severity in Patients With VP as Measured by CGIC.
The higher the score, the less severe the disease. Scale ranges from +3 to -3.
Time frame: From baseline to Day 168
| Arm | Measure | Value (MEDIAN) |
|---|---|---|
| Afamelanotide | The Change in Disease Severity in Patients With VP as Measured by CGIC. | 2.5 Scores on a scale |
Secondary
The Change in Disease Severity in Patients With VP as Measured by 11-point VAS IGA.
A lower score indicates a reduced severity of the disease.Scale ranges from 0 to 10.
Time frame: Median change from baseline to Day 168.
| Arm | Measure | Value (MEDIAN) |
|---|---|---|
| Afamelanotide | The Change in Disease Severity in Patients With VP as Measured by 11-point VAS IGA. | -3.0 Scores on a scale |
Secondary
The Change in Disease Severity in Patients With VP as Measured by 5-point IGA.
A lower score indicates a reduced severity of the disease. Scale ranges from 0 to 4.
Time frame: Median change from baseline to Day 168
| Arm | Measure | Value (MEDIAN) |
|---|---|---|
| Afamelanotide | The Change in Disease Severity in Patients With VP as Measured by 5-point IGA. | -2.0 Scores on a scale |
Secondary
The Change in Disease Severity in Patients With VP as Measured by PGA Using VAS.
A lower score indicates a reduced severity of the disease. Scale ranges from 0 to 10.
Time frame: Median change from baseline to Day 168
| Arm | Measure | Value (MEDIAN) |
|---|---|---|
| Afamelanotide | The Change in Disease Severity in Patients With VP as Measured by PGA Using VAS. | -6.5 Scores on a scale |
Secondary
The Change in Disease Severity in Patients With VP as Measured by PGIC.
The higher the score, the less severe the disease. Score ranges from +3 to -3.
Time frame: Median change from baseline to Day 168
| Arm | Measure | Value (MEDIAN) |
|---|---|---|
| Afamelanotide | The Change in Disease Severity in Patients With VP as Measured by PGIC. | 2.5 Scores on a scale |
Secondary
The Change in Number of New Skin Lesions Formed.
A lower number indicates a reduced severity of the disease.
Time frame: Median change from baseline to Day 168.
| Arm | Measure | Value (MEDIAN) |
|---|---|---|
| Afamelanotide | The Change in Number of New Skin Lesions Formed. | -6.5 Lesions |
Secondary
The Change in Outdoor Light Exposure Over Time (Daily Diary)
Daily diaries recording outdoor light exposure.
Time frame: From baseline to Day 168.
| Arm | Measure | Value (MEDIAN) |
|---|---|---|
| Afamelanotide | The Change in Outdoor Light Exposure Over Time (Daily Diary) | 0.70 Change in number of hours of sunlight |
Secondary
The Change in the Quality of Life in Patients With VP as Measured by VP-derived QOLEB.
Higher scores represent worse health-related quality of life. Scale ranges from 0 to 45.
Time frame: From baseline to Day 168
| Arm | Measure | Value (MEDIAN) |
|---|---|---|
| Afamelanotide | The Change in the Quality of Life in Patients With VP as Measured by VP-derived QOLEB. | -12.0 Score on a scale |
Secondary
The Change in the Quality of Life in Patients With VP as Measured by VP QoL.
Quality of life measured by the number of responses of much better than a year ago to the question How would you judge the condition of your skin of your face and hands today, in comparison to the situation last year (12 months ago)?
Time frame: Assessed at baseline and Day 168 to reflect retrospective changes over the previous 12 months.
| Arm | Measure | Group | Value (COUNT_OF_PARTICIPANTS) |
|---|---|---|---|
| Afamelanotide | The Change in the Quality of Life in Patients With VP as Measured by VP QoL. | Baseline | 0 Participants |
| Afamelanotide | The Change in the Quality of Life in Patients With VP as Measured by VP QoL. | Day 168 | 5 Participants |
Secondary
The Change in the Quality of Life in Patients With VP as Measured by WPAI:GH.
Higher score indicates greater impairment and less productivity. Score is percentage impairment.
Time frame: Median of change from baseline to Day 168
| Arm | Measure | Value (MEDIAN) |
|---|---|---|
| Afamelanotide | The Change in the Quality of Life in Patients With VP as Measured by WPAI:GH. | -10.00 Percentage of impairment time |