Last update 01 Nov 2024

Porphyria, Variegate

Last update 01 Nov 2024

Basic Info

Synonyms

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

+ [48]

Introduction

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.

Drugs associated with Porphyria, Variegate

Givosiran Sodium

Target

ALAS1

Mechanism

ALAS1 inhibitors [+1]

Active Org.

Alnylam Australia Pty Ltd. [+3]

Originator Org.

Alnylam Pharmaceuticals, Inc.

Active Indication

Porphyrias, Hepatic [+1]

Inactive Indication

Coproporphyria, Hereditary [+2]

Drug Highest PhaseApproved

First Approval Ctry. / Loc.

First Approval Date20 Nov 2019

Afamelanotide Acetate

Target

MC1R

Mechanism

MC1R agonists

Active Org.

Clinuvel (UK) Ltd. [+2]

Originator Org.

Clinuvel Pharmaceuticals Ltd.

Active Indication

Protoporphyria, Erythropoietic [+7]

Inactive Indication

Acne Vulgaris [+9]

Drug Highest PhaseApproved

First Approval Ctry. / Loc.

EU [+3]

First Approval Date22 Dec 2014

Clinical Trials associated with Porphyria, Variegate

NCT06408142 / Not yet recruitingNot ApplicableIIT

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.

Start Date01 Dec 2024

Sponsor / Collaborator

The Johns Hopkins University

[+2]

NCT05854784 / CompletedPhase 2

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.

Start Date28 Mar 2023

Sponsor / Collaborator

Clinuvel (UK) Ltd.

NL-OMON54663 / RecruitingPhase 2

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

Start Date28 Mar 2023

Sponsor / Collaborator

Clinuvel (UK) Ltd.

100 Clinical Results associated with Porphyria, Variegate

100 Translational Medicine associated with Porphyria, Variegate

0 Patents (Medical) associated with Porphyria, Variegate

1,119

Literatures (Medical) associated with Porphyria, Variegate

01 Dec 2024·eNeurologicalSci

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

Article

Author: 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.

01 Nov 2024·Neurological Sciences

Radiological and intraoperative findings of a rare case of vestibular paroxysmia

Article

Author: 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.

01 Oct 2024·Canadian Journal of Cardiology

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

Article

Author: 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.

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