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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/show/NCT02240784




Registration number
NCT02240784
Ethics application status
Date submitted
11/09/2014
Date registered
16/09/2014
Date last updated
12/08/2019

Titles & IDs
Public title
EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP)
Scientific title
A Natural History Study of Acute Hepatic Porphyria (AHP) Patients With Recurrent Attacks
Secondary ID [1] 0 0
ALN-AS1-NT-001
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Acute Hepatic Porphyria 0 0
Condition category
Condition code
Metabolic and Endocrine 0 0 0 0
Other metabolic disorders
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders
Skin 0 0 0 0
Other skin conditions
Oral and Gastrointestinal 0 0 0 0
Other diseases of the mouth, teeth, oesophagus, digestive system including liver and colon

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Acute Hepatic Porphyria -

Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Medical history of AHP patients (Part A only)
Timepoint [1] 0 0
Baseline to 6-Month Follow-Up Visit
Primary outcome [2] 0 0
Medication usage of AHP patients (Part A only)
Timepoint [2] 0 0
Baseline to 6-Month Follow-Up Visit
Secondary outcome [1] 0 0
Plasma biomarkers (Part A only)
Timepoint [1] 0 0
0, 6 months and During Attacks
Secondary outcome [2] 0 0
Porphyria signs and symptoms (Part A only)
Timepoint [2] 0 0
0, 2, 4, 6 months
Secondary outcome [3] 0 0
Quality of Life (Part A only)
Timepoint [3] 0 0
0, 6 months
Secondary outcome [4] 0 0
Urine biomarkers (Part A only)
Timepoint [4] 0 0
0, 6 months and During Attacks
Secondary outcome [5] 0 0
Healthcare Utilization (Part A only)
Timepoint [5] 0 0
0, 6 months
Secondary outcome [6] 0 0
Change in disease activity as measured by Quality of Life (Part B only)
Timepoint [6] 0 0
0, 6, 12, 18, 24, 30, 36 months
Secondary outcome [7] 0 0
Change in disease activity as measured by Porphyria Screening/Follow Up Questionnaire (Part B only)
Timepoint [7] 0 0
0, 3, 6, 9, 12, 18, 24, 30, 36 months
Secondary outcome [8] 0 0
Change in disease activity as measured by Brief Pain Inventory form (Part B only)
Timepoint [8] 0 0
0, 3, 6, 9, 12, 18, 24, 30, 36 months
Secondary outcome [9] 0 0
Change in disease activity as measured by European Organization for Research and Treatment of Cancer (EORTC) Questionnaire (Part B only)
Timepoint [9] 0 0
0, 6, 12, 18, 24, 30, 36 months

Eligibility
Key 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
Minimum age
12 Years
Maximum age
No limit
Gender
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria
• Current participation in a clinical trial of an investigational product

Study design
Purpose
Duration
Selection
Timing
Prospective
Statistical methods / analysis

Recruitment
Recruitment status
Recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
Actual
Sample size
Target
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
NSW
Recruitment hospital [1] 0 0
Clinical Trial Site - Camperdown
Recruitment postcode(s) [1] 0 0
- Camperdown
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
California
Country [2] 0 0
United States of America
State/province [2] 0 0
Florida
Country [3] 0 0
United States of America
State/province [3] 0 0
Michigan
Country [4] 0 0
United States of America
State/province [4] 0 0
New York
Country [5] 0 0
United States of America
State/province [5] 0 0
North Carolina
Country [6] 0 0
United States of America
State/province [6] 0 0
Pennsylvania
Country [7] 0 0
United States of America
State/province [7] 0 0
Texas
Country [8] 0 0
United States of America
State/province [8] 0 0
Utah
Country [9] 0 0
Bulgaria
State/province [9] 0 0
Sofia
Country [10] 0 0
Czechia
State/province [10] 0 0
Prague
Country [11] 0 0
Finland
State/province [11] 0 0
Helsinki
Country [12] 0 0
France
State/province [12] 0 0
Paris
Country [13] 0 0
Germany
State/province [13] 0 0
Chemnitz
Country [14] 0 0
Israel
State/province [14] 0 0
Petach Tikva
Country [15] 0 0
Italy
State/province [15] 0 0
Milano
Country [16] 0 0
Italy
State/province [16] 0 0
Modena
Country [17] 0 0
Korea, Republic of
State/province [17] 0 0
Seoul
Country [18] 0 0
Mexico
State/province [18] 0 0
Mexico City
Country [19] 0 0
Netherlands
State/province [19] 0 0
Rotterdam
Country [20] 0 0
Norway
State/province [20] 0 0
Bergen
Country [21] 0 0
Poland
State/province [21] 0 0
Warsaw
Country [22] 0 0
South Africa
State/province [22] 0 0
Cape Town
Country [23] 0 0
Spain
State/province [23] 0 0
Navarro
Country [24] 0 0
Switzerland
State/province [24] 0 0
Zurich
Country [25] 0 0
Taiwan
State/province [25] 0 0
Taipei City
Country [26] 0 0
United Kingdom
State/province [26] 0 0
Wales
Country [27] 0 0
United Kingdom
State/province [27] 0 0
London

Funding & Sponsors
Primary sponsor type
Commercial sector/Industry
Name
Alnylam Pharmaceuticals
Address
Country

Ethics approval
Ethics application status

Summary
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.
Trial website
https://clinicaltrials.gov/show/NCT02240784
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Amy Simon, MD
Address 0 0
Alnylam Pharmaceuticals
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Alnylam Clinical Trials Hotline Call for Complete Site List
Address 0 0
Country 0 0
Phone 0 0
617-575-7400
Fax 0 0
Email 0 0
Contact person for scientific queries

Summary results
For IPD and results data, please see https://clinicaltrials.gov/show/NCT02240784