Acute Hepatic Porphyria, Acute Intermittent Porphyria (AIP), ALA Dehydratase Deficient Porphyria (ADP), Hepatic Porphyrias, Hereditary Coproporphyria (HCP), Porphyria Acute, Variegate Porphyria (VP)
Conditions
Keywords
Acute Hepatic Porphyria, Hepatic Porphyrias, Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP), ALA Dehydratase Deficient Porphyria (ADP), Porphyria Acute
Brief summary
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.
Interventions
None listed
Sponsors
Alnylam Pharmaceuticals
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
16 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* ≥ 16 years of age * Recurrent and severe episodes of abdominal pain that last for at least 24 hours * At least 1 episode of severe abdominal pain that required an urgent healthcare visit in the past 12 months * Other symptoms related to AHP that your doctor will discuss with you * Willing and able to comply with protocol required assessments and provide written informed consent
Exclusion criteria
* Known diagnosis of AHP * Alternative explanation for abdominal pain with clinical response to treatment specific for alternative diagnosis
Design outcomes
Primary
| Measure | 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 |
Secondary
| Measure | Time frame |
|---|---|
| Proportion of patients with pathogenic mutation(s) in the presence of urinary ALA and PBG values above the ULN | 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 participants with AHPs that contain likely pathogenic mutation(s) 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 |
| Proportion of patients with negative genetic tests in the presence of urinary ALA or PBG values above the ULN | 12 months |
Countries
United States
Outcome results
None listed