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Sponsor elected not to continue with study
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This study will use specific diagnostic tests on a group of patients who are experiencing symptoms typical of acute hepatic porphyria (AHP) to determine how many have the condition, and to potentially help improve the diagnostic process for patients in the future.
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| Measure | Description | Time Frame |
|---|---|---|
| Proportion of participants with current or past clinically symptomatic AHP with urinary aminolevulinic acid (ALA) or porphobilinogen (PBG) values above the upper limit of normal (ULN) | 12 months |
| Measure | Description | Time Frame |
|---|---|---|
| Proportion of participants with AHPs that contain likely pathogenic mutation(s) in the presence of urinary ALA or PBG values above the ULN | 12 months | |
| Proportion of patients with pathogenic mutation(s) in the presence of urinary ALA and PBG values above the ULN |
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Inclusion Criteria:
Exclusion Criteria:
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Male and female participants age ≥ 16 years who present with symptoms consistent with Acute Hepatic Porphyria such as recurrent and severe episodes of abdominal pain.
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| Name | Affiliation | Role |
|---|---|---|
| Quinn Dinh, MD | Alnylam Pharmaceuticals | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Clinical Trial Site | Pasadena | California | 91101 | United States | ||
| Clinical Trial Site |
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| 12 months |
| Proportion of patients with variants of unknown significance in the presence of urinary ALA and PBG values above the ULN | 12 months |
| Proportion of patients with negative genetic tests in the presence of urinary ALA or PBG values above the ULN | 12 months |
| Correlation of biochemical and genetic test results with severity of disease measured by symptom frequency and severity in the participant questionnaire | 12 months |
| Correlation of biochemical and genetic test results with severity of disease measured by healthcare utilization in the participant questionnaire | 12 months |
| Jacksonville |
| Florida |
| 32256 |
| United States |
| Clinical Trial Site | Margate | Florida | 33063 | United States |
| Clinical Trial Site | Ames | Iowa | 50010 | United States |
| Clinical Trial Site | Las Vegas | Nevada | 89106 | United States |
| Clinical Trial Site | Manhasset | New York | 11030 | United States |
| Clinical Trial Site | Winston-Salem | North Carolina | 27103 | United States |
| Clinical Trial Site | Pittsburgh | Pennsylvania | 15232 | United States |
| Clinical Trial Site | Pottsville | Pennsylvania | 17901 | United States |
| Clinical Trial Site | Knoxville | Tennessee | 37912 | United States |
| Clinical Trial Site | Houston | Texas | 77025 | United States |
| Clinical Trial Site | Salt Lake City | Utah | 84124 | United States |
| ID | Term |
|---|---|
| D046349 | Coproporphyria, Hereditary |
| D017094 | Porphyrias, Hepatic |
| D017118 | Porphyria, Acute Intermittent |
| D046350 | Porphyria, Variegate |
| ID | Term |
|---|---|
| D008107 | Liver Diseases |
| D004066 | Digestive System Diseases |
| D012873 | Skin Diseases, Genetic |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D011164 | Porphyrias |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
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