EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP)

NCT02240784 | Completed

• 1 other identifier: ALN-AS1-NT-001
• Study Type: observational
• Target: 136
• Locations: 20 countries
• Sites: 30

Brief Summary

The purpose of this study is to characterize the natural history and clinical management of Acute Hepatic Porphyria (AHP) patients with recurring attacks.

Conditions

Acute Hepatic Porphyria

Keywords

Porphyria; AIP; VP; HCP; Variegate; Coproporphyria

Outcome Measures

Primary Outcomes (2)

• Medical history of AHP patients (Part A only)

  Baseline to 6-Month Follow-Up Visit

• Medication usage of AHP patients (Part A only)

  Baseline to 6-Month Follow-Up Visit

Secondary Outcomes (9)

• Plasma biomarkers (Part A only)

  0, 6 months and During Attacks

• Porphyria signs and symptoms (Part A only)

  0, 2, 4, 6 months

• Quality of Life (Part A only)

  0, 6 months

• Urine biomarkers (Part A only)

  0, 6 months and During Attacks

• Healthcare Utilization (Part A only)

  0, 6 months

Study Arms (1)

Acute Hepatic Porphyria

Eligibility Criteria

• Age: 12 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Acute Hepatic Porphyria

You may qualify if:

• Males and females aged \>/= 12 years
• Diagnosis of AHP \[acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP) and aminolevulinic acid dehydratase (ALAD) deficient porphyria (ADP)\]
• Porphyria attacks in the past 12 months or receiving treatment to prevent attacks
• Willing to provide written informed consent, medical records, and to comply with study requirements

You may not qualify if:

• Current participation in a clinical trial of an investigational product

Sponsors & Collaborators

• Alnylam Pharmaceuticals: lead

Study Sites (30)

Clinical Trial Site

San Francisco, California, 94143, United States

Location

Clinical Trial Site

Miami, Florida, 33136, United States

Location

Clinical Trial Site

Ann Arbor, Michigan, 48109, United States

Location

Clinical Trial Site

New York, New York, 10029, United States

Location

Clinical Trial Site

Winston-Salem, North Carolina, 27157, United States

Location

Clinical Trial Site

Philadelphia, Pennsylvania, 19107, United States

Location

Clinical Trial Site

Galveston, Texas, 77555, United States

Location

Clinical Trial Site

Salt Lake City, Utah, 84112, United States

Location

Clinical Trial Site

Camperdown, New South Wales, Australia

Location

Clinical Trial Site

Leuven, Belgium

Location

Clinical Trial Site

Sofia, Bulgaria

Location

Clinical Trial Site

Prague, Czechia

Location

Clinical Trial Site

Helsinki, Finland

Location

Clinical Trial Site

Paris, France

Location

Clinical Trial Site

Chemnitz, Germany

Location

Clinical Trial Site

Petah Tikva, Israel

Location

Clinical Trial Site

Milan, Italy

Location

Clinical Trial Site

Modena, Italy

Location

Clinical Trial Site

Mexico City, Mexico

Location

Clinical Trial Site

Rotterdam, Netherlands

Location

Clinical Trial Site

Bergen, Norway

Location

Clinical Trial Site

Warsaw, Poland

Location

Clinical Trial Site

Cape Town, South Africa

Location

Clinical Trial Site

Seoul, South Korea

Location

Clinical Trial Site

Barcelona, Spain

Location

Clinical Trial Site

Murcia, Spain

Location

Clinical Trial Site

Zurich, Switzerland

Location

Clinical Trial Site

Taipei, Taiwan

Location

Clinical Trial Site

Cardiff, Wales, United Kingdom

Location

Clinical Trial Site

London, United Kingdom

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Urine and plasma samples for known proteins associated with porphyria attacks.

MeSH Terms

Conditions

Coproporphyria, Hereditary; Porphyrias; Coproporphyria

Condition Hierarchy (Ancestors)

Porphyrias, Hepatic; Liver Diseases; Digestive System Diseases; Skin Diseases, Genetic; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Medical Director

  Alnylam Pharmaceuticals

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 11, 2014
• First Posted: September 16, 2014
• Study Start: August 1, 2014
• Primary Completion: April 26, 2021
• Study Completion: April 26, 2021
• Last Updated: May 17, 2021

Record last verified: 2021-05

Data Sharing

• IPD Sharing: Will not share

Locations

IT (2); DE (1); CH (1); ES (2); GB (2); ME (1); CZ (1); TW (1); US (8); BE (1); AU (1); FR (1); ZA (1); BU (1); KR (1); PL (1); IL (1); FI (1); NL (1); NO (1)