Optimizing treatment and follow-up for acute porphyric patients.

• Conditions: Porphyria; 10027424; 10021605; (layman's term not used by patient groups; not applicable); 10019815

• Registration Number: NL-OMON41815
• Lead Sponsor: Erasmus MC, Universitair Medisch Centrum Rotterdam

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 23 April 2024

Recruitment & Eligibility

• Status: Pending
• Sex: Not specified
• Target Recruitment: 1326

Inclusion Criteria

(see Protocol C1. page 14, paragraph 4.2 Inclusion criteria)
Acute porphyria patients:
- Age 12 years and older
- Decreased enzyme activity of porphobilinogen deaminase (acute intermittent porphyria), protoporphyrinogen oxidase (variegate porphyria), and coproporphyrinogen oxidase (hereditary coproporphyria), or an inactivating mutation in the relevant gene or both.
- Symptomatic and asymptomatic patients with an identified acute porphyria mutation or biochemical proof of an acute porphyric attack/episode;Healthy controls are unaffected sibs, spouses or friends selected via the cases.;For both groups a signed informed consent form is required.

Exclusion Criteria

(see Protocol C1. page 14)
Subjects with an increased risk of complication will be excluded from liver biopsy according to guidelines of the American Association for the Study of Liver Diseases, and other risk factors based on local experience.;Contraindications for fine needle biopsy with a 20G needle:;-Under 18 years of age
-Uncooperative patient
-Unable to give informed consent
-Severe coagulopathy
-Infection of the hepatic bed
-Extra hepatic biliary obstruction
-Ascites
-Morbid Obesity
-Possible vascular lesions
-Amyloidosis
-Hydatid disease
-Liver fibrosis/ cirrhosis
-Pre-existent malignancy in the liver
-Any bleeding disorder, including those on aspirin and NSAIDS or any other anticoagulant

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified