NL-OMON47799已完成不适用
atural History Study of Acute Hepatic Porphyria (AHP) Patients with Recurrent Attacks. - AHP study
Alnylam Pharmaceuticals Inc0 个研究点目标入组 11 人开始时间: 待定最近更新:
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 11
研究概览
简要总结
暂无简介。
研究设计
- 研究类型
- Observational
入排标准
- 年龄范围
- 12 至 17（—）
入选标准
- •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.
排除标准
- •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.
研究者
相似试验
已完成
不适用
EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP)Acute Hepatic PorphyriaNCT02240784Alnylam Pharmaceuticals136
已完成
不适用
Prevalence of Acute Hepatic PorphyriaAcute Hepatic PorphyriaNCT04923516Association pour la Recherche en Medecine Interne150
招募中
不适用
Exploratory study of hereditary porphyria diagnosis by porphyrin intermediate metabolite specific spectrum detection using liquid crystal tunable filter (LCTF)hereditary porphyriaJPRN-UMIN000036114Tottori University Faculty of Medicine20
已完成
不适用
Study of the Pathogenesis of Porphyria Cutanea TardaPorphyria Cutanea TardaNCT00005103National Center for Research Resources (NCRR)120
招募中
不适用
Identification of Acute Intermittent Porphyria Modifying GenesAcute Intermittent Porphyria (AIP)NCT05502133Icahn School of Medicine at Mount Sinai150