INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP

Brief Title

INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP

Official Title

INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP

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.
    



Study Type

Observational


Primary Outcome

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)

Secondary Outcome

 Proportion of participants with AHPs that contain likely pathogenic mutation(s) in the presence of urinary ALA or PBG values above the ULN

Condition

Acute Hepatic Porphyria



Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

212

Start Date

May 29, 2018

Completion Date

January 15, 2019

Primary Completion Date

January 15, 2019

Eligibility Criteria

        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
      

Gender

All

Ages

16 Years - N/A

Accepts Healthy Volunteers

No

Contacts

Quinn Dinh, MD, , 

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT03547297

Organization ID

ALN-AS1-NT-002


Responsible Party

Sponsor

Study Sponsor

Alnylam Pharmaceuticals


Study Sponsor

Quinn Dinh, MD, Study Director, Alnylam Pharmaceuticals


Verification Date

January 2019