更新于：2024-11-01

Niemann-Pick Disease, Type B

B型尼曼匹克病

更新于：2024-11-01

基本信息

别名

ACID SPHINGOMYELINASE DEFICIENCY, VISCERAL TYPE、ASMD, VISCERAL TYPE、B型Niemann-Pick病

+ [41]

简介

An allelic disorder of TYPE A NIEMANN-PICK DISEASE, a late-onset form. It is also caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE but clinical signs involve only visceral organs (non-neuropathic type).

关联

项与 B型尼曼匹克病相关的药物

PLX-300

靶点

PPARα

作用机制

PPARα激动剂 [+1]

在研机构

Polaryx Therapeutics, Inc.初创企业

原研机构

Polaryx Therapeutics, Inc.初创企业

在研适应症

A型尼曼匹克病 [+1]

非在研适应症

B型尼曼匹克病 [+2]

最高研发阶段临床1期

首次获批国家/地区-

首次获批日期1800-01-20

项与 B型尼曼匹克病相关的临床试验

NCT05904366 / RecruitingN/AIIT

Magnetic Resonance Spectroscopy in Acid Sphingomyelinase Deficiency

The goal of this study is to assess the ability of MRI techniques to detect early stages of lipid accumulation in the liver of ASMD patients with the chronic visceral subtype compared to healthy subjects.
Participants will undergo an MRI with MR Spectroscopy (MRS) to measure lipid accumulation (steatosis) and MR Elastography (MRE) to measure liver stiffness (fibrosis).

开始日期2023-05-05

申办/合作机构-

NCT05914727 / RecruitingN/AIIT

Biomarkers Of Lung InVolvement In ASMD

The goal of this study is to characterize ASMD patients' breath profile, exhaled breath and condensate as compared to healthy controls to identify specific volatile and non-volatile compounds that reflect inflammatory processes, fibrotic processes or sphingolipid accumulation in the lungs.
Participants will be provided exhaled breath samples in three ways (breath profile, volatile compounds and condensate). ASMD patients will be compared to age- and sex-matched healthy controls.

开始日期2022-12-05

申办/合作机构-

IRCT20130829014521N16 / Completed临床3期IIT

Investigation of the therapeutic effects of Trehalose in lysosomal storage diseases (Niemann-Pick types A & B, and Mucopolysaccharidosis type III/Sanfilippo syndrome)

开始日期2020-06-20

申办/合作机构

Mashhad University of Medical Sciences

100 项与 B型尼曼匹克病相关的临床结果

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100 项与 B型尼曼匹克病相关的转化医学

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0 项与 B型尼曼匹克病相关的专利（医药）

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492

项与 B型尼曼匹克病相关的文献（医药）

2024-11-01·The European Journal of Health Economics

Assessment of health state utilities associated with adult and pediatric acid sphingomyelinase deficiency (ASMD)

Article

作者: Stewart, Katie D ; Scarpa, Maurizio ; Pulikottil-Jacob, Ruth ; Mengel, Eugen ; Laredo, Fernando ; Obermeyer, Travis ; Rowen, Donna ; Lachmann, Robin ; Fournier, Marie ; Ayik, Evren ; Matza, Louis S

AbstractIntroductionAcid sphingomyelinase deficiency (ASMD) type B is a rare genetic disorder leading to enlargement of the spleen and liver, pulmonary dysfunction, and other symptoms. Cost-utility analyses are often conducted to quantify the value of new treatments, and these analyses require health state utilities. Therefore, the purpose of this study was to estimate utilities associated with varying levels of severity of adult and pediatric ASMD type B.MethodsSeven adult and seven child health state vignettes describing ASMD were developed based on published literature, clinical trial results, and interviews with clinicians, patients with ASMD, and parents of children with ASMD. The health states were valued in time trade-off interviews with adult general population respondents in the UK.ResultsInterviews were completed with 202 participants (50.0% female; mean age = 41.3 years). The health state representing ASMD without impairment had the highest mean utility for both the adult and child health states (0.92/0.94), and severe ASMD had the lowest mean utility (0.33/0.45). Every child health state had a significantly greater utility than the corresponding adult health state. Differences between adult/child paired states ranged from 0.02 to 0.13. Subgroup analyses explored the impact of parenting status on valuation of child health states.DiscussionGreater severity of ASMD was associated with lower mean utility. Results have implications for valuation of pediatric health states. The resulting utilities may be useful in cost-utility modeling estimating the value of treatment for ASMD.

2024-09-01·Molecular Genetics and Metabolism Reports

Desensitization of olipudase alfa-induced anaphylaxis in a child with chronic neurovisceral acid sphingomyelinase deficiency

Article

作者: Tagi, Veronica Maria ; Carlevatti, Veronica ; Verduci, Elvira ; Zuccotti, Gianvincenzo ; Gambino, Mirko ; Zizzo, Carmela ; Montanari, Chiara ; Dilillo, Dario ; Fiori, Laura ; D'Auria, Enza

Olipudase alfa is indicated for the non-central nervous system manifestations of Acid sphingomyelinase deficiency (ASMD). Anaphylaxis is a very rare and life-threatening adverse reaction described for this drug. Here, we report the case of a 2-year-old boy affected by chronic neurovisceral ASMD who experienced signs of hypersensitivity reactions to olipudase alfa since the administered dose of 1 mg/kg during dose escalation and a proper anaphylactic reaction during the second administration of the target therapeutic dose of 3 mg/kg. The treatment was stopped for 15 weeks and then a 7-step desensitization protocol with the infused dose of 0.03 mg/kg was applied. Subsequent gradual dose escalation was resumed, successfully reaching the dose of 0.3 mg/kg. Moreover, biochemical, and radiological disease indexes, which were increased during treatment discontinuation, have gradually improved since the restart of treatment. However, at the second administration of the dose of 0.6 mg/kg, the patient experienced another adverse drug reaction with facial urticarial rash and bronchospasm, requiring the administration of adrenaline, methylprednisolone, and inhaled salbutamol. This case report highlights the need to customize the olipudase alfa desensitization protocol according to individual tolerance and raises the issue of achieving the established therapeutic target in the most sensitive children.SynopsisWe report a case of anaphylaxis to olipudase alfa in a child affected by chronic neurovisceral Acid sphingomyelinase deficiency (ASMD) and describe a 7-step desensitization procedure. This procedure, with the total administered dose of 0.03 mg/kg, followed by gradual dose escalation, allowed to reach the dose of 0.3 mg/kg without adverse reactions; however, at the second administration of the dose of 0.6 mg/kg our patient presented another adverse reaction suggesting the need of a different desensitization strategy.

2024-07-01·Journal of VitreoRetinal Diseases

Bilateral Macular Halo and Full-Thickness Macular Hole Repair in Niemann-Pick Disease Type B

Article

作者: Fung, Adrian T. ; Li, Ye ; Cherepanoff, Svetlana

Purpose: To report the results of surgery in a patient with Niemann-Pick disease type B, bilateral macular halos, and a full-thickness macular hole (FTMH) in the right eye. Methods: A case was evaluated. Results: A 72-year-old man with Niemann-Pick disease type B presented with an FTMH in the right eye. On examination, the visual acuity (VA) was 20/120 OD and 20/16 OS. Bilateral, symmetric, circular yellow–white deposits encircled the fovea. Optical coherence tomography showed focal parafoveal inner retinal hyperreflectivity bilaterally and an FTMH in the right eye. The patient had a vitrectomy with inner limiting membrane (ILM) peeling; the peeled membrane was unremarkable on cytopathology. Six weeks postoperatively, the MH was closed and the VA had improved to 20/40. Conclusions: Successful MH closure is possible in the presence of macular halos secondary to Niemann-Pick disease type B. Cytopathology of the ILM suggests the ILM is not involved in the pathogenesis of macular halos.