Clinical trial NCT02240784: EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP)
Official title: A Natural History Study of Acute Hepatic Porphyria (AHP) Patients With Recurrent Attacks
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Acute Hepatic Porphyria
Keywords: Porphyria
AIP
VP
HCP
Variegate
Coproporphyria
Lead sponsor: Alnylam Pharmaceuticals
Sponsor class: INDUSTRY
First posted: 2014-09-16
Enrollment: 136
Sex: ALL
Minimum age (years): 12
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Acute Hepatic Porphyria

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.


Eligibility criteria: Inclusion Criteria:

* 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

Exclusion Criteria:

• Current participation in a clinical trial of an investigational product

Primary outcomes:
measure: Medical history of AHP patients (Part A only)
timeFrame: Baseline to 6-Month Follow-Up Visit
measure: Medication usage of AHP patients (Part A only)
timeFrame: Baseline to 6-Month Follow-Up Visit
Secondary outcomes:
measure: Plasma biomarkers (Part A only)
timeFrame: 0, 6 months and During Attacks
measure: Porphyria signs and symptoms (Part A only)
timeFrame: 0, 2, 4, 6 months
measure: Quality of Life (Part A only)
timeFrame: 0, 6 months
measure: Urine biomarkers (Part A only)
timeFrame: 0, 6 months and During Attacks
measure: Healthcare Utilization (Part A only)
timeFrame: 0, 6 months
measure: Change in disease activity as measured by Quality of Life (Part B only)
timeFrame: 0, 6, 12, 18, 24, 30, 36 months
measure: Change in disease activity as measured by Porphyria Screening/Follow Up Questionnaire (Part B only)
timeFrame: 0, 3, 6, 9, 12, 18, 24, 30, 36 months
measure: Change in disease activity as measured by Brief Pain Inventory form (Part B only)
timeFrame: 0, 3, 6, 9, 12, 18, 24, 30, 36 months
measure: Change in disease activity as measured by European Organization for Research and Treatment of Cancer (EORTC) Questionnaire (Part B only)
timeFrame: 0, 6, 12, 18, 24, 30, 36 months
Other outcomes:
Locations:
city: San Francisco
country: United States
facility: Clinical Trial Site
state: California
city: Miami
country: United States
facility: Clinical Trial Site
state: Florida
city: Ann Arbor
country: United States
facility: Clinical Trial Site
state: Michigan
city: New York
country: United States
facility: Clinical Trial Site
state: New York
city: Winston-Salem
country: United States
facility: Clinical Trial Site
state: North Carolina
city: Philadelphia
country: United States
facility: Clinical Trial Site
state: Pennsylvania
city: Galveston
country: United States
facility: Clinical Trial Site
state: Texas
city: Salt Lake City
country: United States
facility: Clinical Trial Site
state: Utah
city: Camperdown
country: Australia
facility: Clinical Trial Site
state: New South Wales
city: Leuven
country: Belgium
facility: Clinical Trial Site
city: Sofia
country: Bulgaria
facility: Clinical Trial Site
city: Prague
country: Czechia
facility: Clinical Trial Site
city: Helsinki
country: Finland
facility: Clinical Trial Site
city: Paris
country: France
facility: Clinical Trial Site
city: Chemnitz
country: Germany
facility: Clinical Trial Site
city: Petach Tikva
country: Israel
facility: Clinical Trial Site
city: Milano
country: Italy
facility: Clinical Trial Site
city: Modena
country: Italy
facility: Clinical Trial Site
city: Seoul
country: Korea, Republic of
facility: Clinical Trial Site
city: Mexico City
country: Mexico
facility: Clinical Trial Site
city: Rotterdam
country: Netherlands
facility: Clinical Trial Site
city: Bergen
country: Norway
facility: Clinical Trial Site
city: Warsaw
country: Poland
facility: Clinical Trial Site
city: Cape Town
country: South Africa
facility: Clinical Trial Site
city: Barcelona
country: Spain
facility: Clinical Trial Site
city: Murcia
country: Spain
facility: Clinical Trial Site
city: Zurich
country: Switzerland
facility: Clinical Trial Site
city: Taipei City
country: Taiwan
facility: Clinical Trial Site
city: Cardiff
country: United Kingdom
facility: Clinical Trial Site
state: Wales
city: London
country: United Kingdom
facility: Clinical Trial Site
Study officials:
affiliation: Alnylam Pharmaceuticals
name: Medical Director
role: STUDY_DIRECTOR
References: