atural History Study of Acute Hepatic Porphyria (AHP) Patients with Recurrent Attacks.

Recruitment & Eligibility

Status: Completed

Sex: Not specified

Target Recruitment: 11

Inclusion Criteria

1. Male or female patient aged > 12 years;
2. Diagnosis of one of the AHPs (AIP, HCP, VP and ADP made by a porphyria specialist including a history of clinical features of porphyria (such as acute attacks of abdominal, back, or limb pain; biochemical evidence during an attack [at least 1 documented instance of urine or plasma ALA or PBG level >4 times the upper limit prior to the Baseline Visit]); and molecular confirmation of at least one of the following has been documented previously:
a. Acute Intermittent Porphyria (AIP): disease-causing mutation in the HMBS (also called PBGD) gene
b. Hereditary Coproporphyria (HCP): disease-causing mutation in the CPOX gene
c. Variegate Porphyria (VP): disease-causing mutation in the PPOX gene
d. Aminolevulinic acid dehydratase deficient porphyria (ADP): disease-causing mutation in the aminolevulinic acid dehydratase (ALAD) homozygous or compound heterozygous genes
e. If no mutation can be identified, the patient is eligible as long as one of the following signs is present: decreased HMBS activity, increased fecal coproporphyrins with a ratio of coproporphyrin III/coproporphyrin I >4 with or without elevation of fecal protoporphyrin, and the patient has been determined to have AHPs (AIP, HCP, VP, or ADP) by a porphyria specialist;
3. Patients in part A experience attacks of porphyria as defined by meeting one of the following:
a. patient experienced at least 3 porphyric attacks (requiring increased pain medication or carbohydrate intake, hemin administration or hospitalization for symptoms and signs of acute porphyria including but not limited to, severe abdominal pain, vomiting, tachycardia, constipation, hypertension, or hyponatremia) within 12 months of the Baseline Visit with at least 1 prior attack requiring hemin or treatment at a hospital or clinic;
b. patients who have experienced only 1 attack within 12 months of the Baseline Visit
in Part B of the study.
c. patient is receiving hemin on an average (average of the 12 months prior to Baseline Visit) of one or more times per month;
d. patient is receiving gonadotropin-releasing hormone (GnRH) analogues to prevent porphyric attacks.
4. Patient is willing to provide detailed medical history, including porphyria history, family history, and prior medication usage, for at least 24 months prior to the Baseline Visit.
5. Patient is willing and able to comply with the protocol-required visit schedule and visit requirements and provide written informed consent. ;In Part B, patients experience recent porphyria attack activity or is on treatment to prevent attacks as defined by meeting one of the following:
a. patients who have experienced only 1 attack within 12 months of the Baseline Visit. ;Patients in Part B of the study are subject to the same eligibility criteria, except that for new patients who did not participate Part A, the timing of the requirements described in #3 above (<= inclusion criteria) are relative to Part B study entry.

Exclusion Criteria

1. Current participation in a clinical trial with an investigational product;
2. Per Investigator judgement, patient is not a good candidate for study participation.

Patients in Part B of the study are subject to the same eligibility criteria.

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>To characterize the natural history and clinical management of AHP patients<br /><br>with porphyria attacks.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>In Part A, to characterize the following in AHP patients with porphyria attacks:<br /><br>* Plasma and urine ALA and PBG levels between and during attacks;<br /><br>* Porphyria signs and symptoms between and during attacks;<br /><br>* Medical history and familial history;<br /><br>* QoL and healthcare utilization;<br /><br>* Chemistry, hematology, and urinalysis laboratory parameters;<br /><br>* Exploratory biomarker sample collection. Genetic testing will not be<br /><br>conducted on biomarker samples.<br /><br><br /><br>In Part B, to perform long-term assessment of the following in AHP patients<br /><br>with porphyria attacks:<br /><br>* Pain intensity and impact as measured by Brief Pain Inventory form<br /><br>* Changes in disease activity as measured by survey instruments<br /><br>(questionnaires)</p><br>