更新于：2024-11-01

Porphyria, Variegate

多样性卟啉病

更新于：2024-11-01

基本信息

别名

Dean-Barnes syndrome、Deficiency, Ppox、Mixed hepatic porphyria

+ [48]

简介

An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen.

关联

项与多样性卟啉病相关的药物

Givosiran Sodium

靶点

ALAS1

作用机制

ALAS1抑制剂 [+1]

在研机构

Alnylam Australia Pty Ltd. [+3]

原研机构

Alnylam Pharmaceuticals, Inc.

在研适应症

肝性卟啉症 [+1]

非在研适应症

遗传性类卟啉症 [+2]

最高研发阶段批准上市

首次获批国家/地区

美国

首次获批日期2019-11-20

Afamelanotide Acetate

阿法诺肽

靶点

MC1R

作用机制

MC1R激动剂

在研机构

Clinuvel (UK) Ltd. [+2]

原研机构

Clinuvel Pharmaceuticals Ltd.

在研适应症

红细胞生成性原卟啉症 [+7]

非在研适应症

寻常痤疮 [+9]

最高研发阶段批准上市

首次获批国家/地区

欧盟 [+3]

首次获批日期2014-12-22

项与多样性卟啉病相关的临床试验

NCT06408142 / Not yet recruitingN/AIIT

Universal Test and Connect for HIV Service Delivery in South Africa

The goal of this study is to determine how many patients with HIV or at high risk of getting HIV attend the Emergency Department (ED) in South Africa (SA). the investigators will integrate HIV assessment in the ED and see how many people who would be a candidate for a drug that prevents HIV (PrEP). Universal test and connect (UTC) is a strategy that universally tests all patients and connects patients to long-term care, whether HIV positive or negative, including referrals for PrEP. The investigator's goal is to use UTC across two busy 24-hr EDs in Cape Town, SA.

开始日期2024-12-01

申办/合作机构

The Johns Hopkins University

[+2]

NCT05854784 / Completed临床2期

Proof of Concept, Phase IIa, Open Label Study to Evaluate the Safety and Efficacy of Afamelanotide in Patients With Variegate Porphyria (VP)-Related Skin Disease.

The primary objective is to evaluate the impact of afamelanotide on the severity of skin disease in patients with Variegate Porphyria (VP). The secondary objectives are to evaluate the safety and tolerability of afamelanotide in patients with VP and evaluate the impact of afamelanotide on the quality of life of patients with VP.

开始日期2023-03-28

申办/合作机构

Clinuvel (UK) Ltd.

NL-OMON54663 / Recruiting临床2期

A Proof of Concept, Phase IIa, Open Label Study to Evaluate the Safety and Efficacy of Afamelanotide in Patients with Variegate Porphyria (VP)-related skin disease. - Phase IIa VP Study / CUV040

开始日期2023-03-28

申办/合作机构

Clinuvel (UK) Ltd.

100 项与多样性卟啉病相关的临床结果

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100 项与多样性卟啉病相关的转化医学

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0 项与多样性卟啉病相关的专利（医药）

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1,119

项与多样性卟啉病相关的文献（医药）

2024-12-01·eNeurologicalSci

Vascular parkinsonism showing dopamine transporter scan findings mimicking those of Parkinson's disease

Article

作者: Fujita, Hiroaki ; Suzuki, Keisuke ; Ogaki, Keitaro ; Sakuramoto, Hirotaka

Dopamine transporter (DAT) scan is important in the diagnosis of Parkinson's disease (PD). We herein report a patient with vascular parkinsonism (VP) who showed dopamine transporter (DAT) scan findings which mimicked those typically seen in patients with Parkinson's disease (PD). DAT scan findings in patients with VP are characterized by a lower striatal asymmetry index than in patients with PD and decreased uptake in the area consistent with old cerebral infarction or hemorrhage. However, we should be aware that, as in our patient, VP patients with asymmetric basal ganglia lesions, may show increased striatal asymmetry index and asymmetric DAT scan findings.

2024-11-01·Neurological Sciences

Radiological and intraoperative findings of a rare case of vestibular paroxysmia

Article

作者: Ioannoni, Eleonora ; Izzo, Alessandro ; Montano, Nicola

AbstractVestibular paroxysmia (VP) is a rare condition. The pathogenesis is linked to a neurovascular conflict (NVC) between an abnormal arterial loop and the VII/VIII cranial nerve complex in the cerebello-pontine angle. Due to its rarity, intraoperative findings are only anecdotally reported. Here we reported on a case of VP, showing the radiological images and the intraoperative surgical video of microvascular decompression (MVD). Further we discussed our findings considering the pertinent literature. We think that in case of VP the concordance between the side of tinnitus/hypoacusia and the side of NVC on magnetic resonance imaging should be always looked for before considering MVD as a therapeutic option.

2024-10-01·Canadian Journal of Cardiology

Clinical and genetic profile of Chinese children with Danon disease: A single-center retrospective cohort study

Article

作者: Chen, Yiwei ; Zhang, Hao ; Yu, Tingting ; Chen, Hao ; Zhang, Zhen ; Chen, Lijun ; Zhang, Bing ; Zhang, Qingni ; Yao, Ruen ; Chan, Wenxiu ; Fu, Lijun ; Wu, Jinjin

BACKGROUNDDanon disease (DD) is a rare X-linked dominant lysosomal storage disorder. Studies on DD pediatric patients are limited due to the small number of cases and challenges in early detection.METHODSWe retrospectively analyzed clinical and genetic data of 29 pediatric patients who visited our hospital for treatment or genetic counseling of DD from July 2014 to December 2023.RESULTSThe mean age at diagnosis was 7.2±5.9 years for males (n=21) and 9.4±5.0 years for females (n=8). Asymptomatic elevated liver aminotransferase and/or creatine kinase (CK) levels were initial manifestations detected in 10 (48%) male patients and absent in female patients. Hypertrophic cardiomyopathy (HCM) was observed in 20 (95%) male and 7 (88%) female patients, while dilated cardiomyopathy (DCM) was not detected. Ventricular preexcitation (VP) was observed initially in 10 (36%) patients and in 15 (54%) at latest evaluation. Patients with VP had higher left ventricular posterior wall thickness in diastole z-scores than those without VP (5.6±2.2 vs. 3.5±2.1, p=0.029). During a median 2.7-years follow-up, two males received heart transplants. One boy and one girl died of heart failure and sudden cardiac arrest, respectively. Twenty-three pathogenic LAMP2 variants were identified, including seven novel variants.CONCLUSIONSA retrospective review of 29 DD cases suggests an underrecognized asymptomatic period in male DD patients, characterized by elevations in serum CK and transaminases. HCM appears to be the only cardiac manifestation in pediatric female patients, unlike a high incidence of DCM in adult female patients. The incidence of VP may increase with disease progression.