Erythropoietic Protoporphyria
Conditions
Keywords
Sorbent, Resin, EPP, Cutaneous porphyria, Adult, over age 21, without intercurrent illness, not pregnant, willing to participate
Brief summary
The investigators demonstrated that cholestyramine is an effective binding agent in vitro for porphyrins. A few isolated case reports of treatment of individuals with a cutaneous porphyria suggest that cholestyramine and colestipol effectively remove porphyrins. Hypothesis: orally administered colestipol will effectively reduce sun sensitivity and lower erythrocyte porphyrin concentrations in subjects with erythropoietic protoporphyria (EPP).
Detailed description
Four adults with proven EPP volunteered as subjects for this study. First period: Subjects received 1 gm colestipol twice daily for \ 45 days, then 2 gm twice daily for \ 45 days. Labs included CBC; liver chemistries including cholesterol; serum iron, TIBC and ferritin; erythrocyte and plasma protoporphyrin concentrations; and completion of sun exposure questionnaire focused on cutaneous manifestations every 2-4 weeks. Second period: Subjects received colestipol tablets, 2 grams twice daily, completing the sun exposure questionnaire and protoporphyrin determinations \ monthly for 5-6 months.
Interventions
DRUGColestipol
2 grams morning and bedtime for 90 days.
Sponsors
Brigham and Women's Hospital
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
22 Years to 60 Years
Healthy volunteers
Yes
Inclusion criteria
* Adult over age 21 * healthy
Exclusion criteria
* Intercurrent illness * pregnancy
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Photosensitivity, Assessed by Measuring the Number of Minutes of Sun Tolerance | At 60 days of treatment | Minutes of sun tolerance |
| Protoporphyrin Concentration in Blood | Samples collected while on treatment (range 93-208 treatment days) | 1. erythrocyte protoporphyrin concentration, ug/dl 2. plasma protoporphyrin concentration, ug/dl |
Countries
United States
Participant flow
Recruitment details
Dates: February and March 2011.Location types: suburbs of Massachusetts (3 subjects) and in New Jersey (1).
Pre-assignment details
All 4 subjects were enrolled in the study. Initially, baseline blood protoporphyrin concentrations and answers to sun sensitivity questionnaire were obtained.
Participants by arm
| Arm | Count |
|---|---|
| Colestipol Therapy of Protoporphyria 4 subjects were assigned, all between 18-65 years of age. | 4 |
| Total | 4 |
Withdrawals & dropouts
| Period | Reason | FG000 |
|---|---|---|
| Overall Study | Adverse Event | 1 |
Baseline characteristics
| Characteristic | Colestipol Therapy of Protoporphyria |
|---|---|
| Age, Categorical <=18 years | 0 Participants |
| Age, Categorical >=65 years | 0 Participants |
| Age, Categorical Between 18 and 65 years | 4 Participants |
| Age, Continuous | 43 years STANDARD_DEVIATION 15 |
| Age, Customized <=18 years | 0 participants |
| Age, Customized >=65 years | 0 participants |
| Age, Customized Between 18 and 65 years | 4 participants |
| Region of Enrollment United States | 4 participants |
| Sex: Female, Male Female | 4 Participants |
| Sex: Female, Male Male | 0 Participants |
Adverse events
| Event type | EG000 affected / at risk |
|---|---|
| deaths Total, all-cause mortality | — / — |
| other Total, other adverse events | 0 / 4 |
| serious Total, serious adverse events | 1 / 4 |
Outcome results
Primary
Photosensitivity, Assessed by Measuring the Number of Minutes of Sun Tolerance
Minutes of sun tolerance
Time frame: At 60 days of treatment
Population: All of the original 4 subjects had bona fide erythropoietic protoporphyria (EPP). One subject was removed during Perdiod 1. The data from the same 3 subjects who completed periods 1 and 2 were analyzed for the study results. Data collected was not tractable for statistical analysis given the range of results
| Arm | Measure | Value (MEAN) | Dispersion |
|---|---|---|---|
| Colestipol Treatment | Photosensitivity, Assessed by Measuring the Number of Minutes of Sun Tolerance | 65.8 minutes | Standard Deviation 58.8 |
Primary
Protoporphyrin Concentration in Blood
1. erythrocyte protoporphyrin concentration, ug/dl 2. plasma protoporphyrin concentration, ug/dl
Time frame: Samples collected while on treatment (range 93-208 treatment days)
| Arm | Measure | Group | Value (MEAN) | Dispersion |
|---|---|---|---|---|
| Colestipol Treatment | Protoporphyrin Concentration in Blood | Erythrocyte Protoporphyrin | 1712 ug/dl | Standard Deviation 455 |
| Colestipol Treatment | Protoporphyrin Concentration in Blood | Plasma Protoporphyrin | 5.8 ug/dl | Standard Deviation 8.3 |