更新于：2024-05-01

Bullous Dystrophy, Hereditary Macular Type

遗传性黄斑型大疱性营养不良

更新于：2024-05-01

基本信息

别名

BULLOUS DYSTROPHY, HEREDITARY MACULAR TYPE、Bullous Dystrophy, Hereditary Macular Type、EBM

+ [14]

简介

A rare X-linked syndromic intellectual disability characterized by intellectual deficit, microcephaly, short stature, and ectodermal anomalies (including alopecia, spontaneous formation of bullae without evident trauma, hyper- or hypopigmented maculae, acrocyanosis, and dystrophic nails) in male patients. Additional reported features are short, tapering fingers, ocular anomalies (such as corneal opacities and cataract), and hypogenitalism. There have been no further descriptions in the literature since 1995.

关联

项与遗传性黄斑型大疱性营养不良相关的药物

Birch triterpenes

靶点-

作用机制-

在研机构

CHIESI Farmaceutici SpA [+3]

原研机构

Amryt Pharma Holdings Ltd.

在研适应症

营养不良性大疱性表皮松解 [+3]

非在研适应症

光化性角化病 [+2]

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2016-01-14

项与遗传性黄斑型大疱性营养不良相关的临床试验

NCT05651607 / Completed临床2期

Evaluation of the Efficacy of CANNABIDIOL on the Pruritus in Children With Hereditary Epidermolysis Bullosa

Hereditary epidermolysis bullosa (HEB) is a heterogeneous group of rare genetic diseases, characterized by fragility of the skin and mucous membranes, which results in the appearance of mucocutaneous bullae and erosions during minimal trauma. Pruritus is a neuropathic pain mainly related to activation of unmyelinated cutaneous C nerve fibers and is very common in patients with HEB. It is the cause of trophic disorders, aggravation of certain wounds, appearance of new bubbles. In addition, this chronic pruritus can also have a major psychological impact on the patient and his family. However, these therapies used in the pruritus of patients with HEB have often proven to be ineffective.
In order to improve the quality of life of children and their families, research into new therapies to limit this chronic pruritus is necessary. Among phytocannabinoids, CANNABIDIOL (CBD) should be clearly distinguished from Delta-9-tetrahydrocannabinol (THC). Indeed, CBD is an "inverse" agonist of the CB2 receptor, it acts by reducing the effect of this receptor, while THC is an agonist of the CB1 and CB2 receptors. Thus, CBD has antipsychotic, anxiolytic, antiemetic, anti-inflammatory and anti-epileptic effects, unlike THC which has psychotic, relaxation effects, impairs cognitive function and memory. Cannabinoids are involved in the physiopathology in pruritus at the level of the peripheral nervous system via the CB1 and TRPV1 receptors, and also at the level of the central nervous system thanks to the CB1 and CB2 receptors. In addition, inflammation plays an important role in the physiopathology of pruritus and this is reduced via the activation of CB2 receptors, expressed in immune cells. Various studies with promising results have examined the effect of cannabinoids in pruritus. No serious adverse effects have been reported and the rare adverse effects that have been observed are reversible upon discontinuation of treatment.
The research project seeks to estimate the efficacy of CANNABIDIOL in the pruritus of 10 children with severe hereditary epidermolysis bullosa. Pruritus is assessed before the start of treatment, then after one month of taking oral treatment, three times a day. The effectiveness of taking the treatment will also be assessed on pain, on the impact on sleep and on overall quality of life. The tolerance of CANNABIDIOL will be well monitored. The systemic passage of CANNABIDIOL is measured during a routine blood test 1 month after treatment.

开始日期2023-07-06

申办/合作机构

Assistance Publique–Hôpitaux de Paris (AP-HP)

[+2]

NCT05248503 / RecruitingN/A

Impact of Complex Care Training of Hereditary Epidermolysis Bullosa on Caregiver Burden (FIREB)

Hereditary epidermolysis bullosa (EBH) is a rare, orphan disease characterized by skin and mucous membrane fragility.
The latest scientific data show that the proposed treatments are still in the experimental stage and that no curative treatment is available. The repercussions of this chronic disease, with neonatal onset, are major.
Epidermolysis bullosa requires multidisciplinary medical management, nursing care, psychological and social care.
Skin care involves preventing and treating chronic wounds and identifying their complications. The very great cutaneous-mucous fragility makes these treatments painful, long and complex, the caring hand itself being able to cause new wounds. Analgesics of different levels are not effective enough during treatment.
Along with counseling and education, nursing takes a central role in multi-professional accompaniment interventions to support and relieve families.
Parents became home caregivers out of necessity, and developed specific skills in epidermolysis bullosa, their child and dressings. They have great and demanding expectations of caregivers facing this rare disease, for which they are not trained in their degree course. Despite the severe nature of the disease, few studies have been carried out on the impact and psychosocial consequences on patients and their families, yet there is an expressed need for support.
The burden on parents is heavy, assessed by specific scales, but to date there are no studies examining the impact of epidermolysis bullosa care on caregiver stress.

开始日期2023-06-01

申办/合作机构

Assistance Publique des Hôpitaux de Paris SA

EUCTR2018-000261-36-IT / Unknown status临床2/3期

MULTICENTRE, OPEN-LABEL, UNCONTROLLED, PIVOTAL CLINICAL TRIAL TO CONFIRM THE EFFICACY AND SAFETY OF AUTOLOGOUS FIBRIN-CULTURED EPIDERMAL GRAFTS CONTAINING EPIDERMAL STEM CELLS GENETICALLY MODIFIED FOR RESTORATION OF EPIDERMIS IN PATIENTS WITH JUNCTIONAL EPIDERMOLYSIS BULLOSA (HOLOGENE 5) - Hologene 5

开始日期2021-09-07

申办/合作机构

Holostem Terapie Avanzate Srl

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0 项与遗传性黄斑型大疱性营养不良相关的专利（医药）

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194

项与遗传性黄斑型大疱性营养不良相关的文献（医药）

2023-11-01·Soins; la revue de reference infirmiere

[Adapting technical care to EBH patients].

Article

作者: Marion Arnaud ; Mathilde Leloup

The skin of patients with hereditary epidermolysis bullosa (HEB) is extremely fragile. When providing care, nurses must be extremely vigilant to avoid inducing lesions. Whether inserting a peripheral venous line, taking blood pressure or monitoring the patient, nurses are likely to injure the patient's skin by compressing it, rubbing it, applying dressings and so on. It is therefore essential that they adapt this care to the person suffering from HEB.

2023-11-01·Soins; la revue de reference infirmiere

[Cutaneous squamous cell carcinomas: a complication of severe forms of hereditary epidermolysis bullosa].

Article

作者: Emmanuelle Bourrat

Despite an increase in life expectancy and quality of life for patients suffering from severe forms of hereditary epidermolysis bullosa, the occurrence of one or more cutaneous squamous cell carcinomas remains a sometimes serious complication, sometimes life-threatening as early as adolescence. These carcinomas occur preferably on chronic wounds or dystrophic scars in areas not exposed to the sun, and are generally multifocal and recurrent. Their clinical and histological diagnosis is difficult. Regular medical and paramedical monitoring of the skin during dressing repairs enables early detection and rapid, curative surgical management. The pathophysiology of these cutaneous carcinomas is the subject of research aimed at proposing non-surgical alternatives to the patients concerned.

2023-11-01·Soins; la revue de reference infirmiere

[EB care by a home care nurse: mission impossible?]

Article

作者: Gwenaëlle Ramolino

Hereditary epidermolysis bullosa is also known as the "butterfly child" disease. By no means bucolic, the expression of this cruel pathology makes the lives of affected patients a daily struggle against sores covering the body, causing pain and requiring conscientious care. Like the disease itself, the care provided by a nurse at home is heavy, complex... and rare. Preventive care, education, assessment and dressing repairs are all part of nursing care, but are mainly carried out by relatives, or even by the patient him/herself. A further burden for these people, who are heavily impacted physically, psychologically and socially.

项与遗传性黄斑型大疱性营养不良相关的新闻（医药）

2024-04-07

·药精通Bio

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基因疗法细胞疗法

2024-02-05

·PRNewswire

PANTHERx® Rare Selected by Chiesi Global Rare Diseases for the Distribution of Filsuvez® (birch triterpenes) topical gel

PITTSBURGH, Feb. 5, 2024 /PRNewswire/ -- PANTHERx® Rare, a leader in rare disease product patient access and support services in the United States, is pleased to announce it was selected by Chiesi Global Rare Diseases, a business unit of the Chiesi Group, for the distribution of Filsuvez® topical gel, the first approved treatment for wounds associated with both dystrophic and junctional epidermolysis bullosa (EB) in adult and pediatric patients 6 months of age and older.1 EB is a group of inherited disorders characterized by fragile skin and mucous membranes that result in formation of blisters and wounds in response to minor trauma and can lead to fibrosis and scarring, joint contracture, and increased risk for developing cutaneous squamous cell carcinoma (SCC).2-4 Dystrophic epidermolysis bullosa (DEB) is a major type of EB resulting from impaired type VII collagen expression which leads to separation of skin layers between the basement membrane and the upper dermis.3,5 Junctional epidermolysis bullosa (JEB) is a less common subtype of EB that occurs from various absent or deficient adhesion proteins leading to separation of the epidermis and basement membrane.3,5 Both are associated with intolerable pain with limited mobility. Living with EB entails daily challenges to navigate, including slow-healing wounds at risk of infection and painful dressing changes. Filsuvez is applied topically to the wound surface at home, during wound dressing changes and works to accelerate wound healing with a goal of achieving complete wound closure within 45 days.6 "We strive to be the catalyst that seamlessly delivers essential medications to individuals confronting rare conditions," said Rob Snyder, CEO of PANTHERx® Rare Pharmacy. "We look forward to working with the Chiesi Global Rare Diseases to make a difference in the lives of those living with wounds associated with both dystrophic and junctional epidermolysis bullosa." About PANTHERx Rare PANTHERx Rare is a dual-accredited specialty pharmacy focused on rare and orphan disease, distributing several orphan products and providing access and support services to those needing them most. PANTHERx transforms lives by delivering medicine breakthroughs, clinical excellence, and access solutions to people living with rare and devastating conditions. While each rare condition affects few people, together all rare diseases impact an estimated 25 to 30 million Americans.3 Currently over 7,000 rare diseases have been identified and more than 90% of rare diseases are still without an FDA-approved treatment.3 Changes in federal policy and advances in science have led to a surge in FDA orphan drug approvals, providing tremendous hope to the rare disease community. PANTHERx is a dual-accredited specialty pharmacy, holding distinctions in rare disease including the Accreditation Commission for Health Care (ACHC) Distinction in Orphan Drugs and Utilization Review Accreditation Commission (URAC) Rare Disease Center of Excellence.4-5 As a pharmacy focused on patient satisfaction, PANTHERx is now a six-time winner of the prestigious MMIT Patient Choice Award, including the 2023 honor.6 PANTHERx is headquartered in Pittsburgh, Pennsylvania and is licensed in all 50 states and US territories. About Chiesi Global Rare Diseases Chiesi Global Rare Diseases is a business unit of the Chiesi Group established to deliver innovative therapies and solutions for people affected by rare diseases. As a family business, Chiesi Group strives to create a world where it is common to have a therapy for all diseases and acts as a force for good, for society and the planet. The goal of the Global Rare Diseases unit is to ensure equal access so as many people as possible can experience their most fulfilling life. The unit collaborates with the rare disease community around the globe to bring voice to underserved people in the health care system. Filsuvez. Package Insert. Chiesi; 2023. Kern JS, Sprecher E, Fernandez MF, et al. Efficacy and safety of Oleogel-S10 (birch triterpenes) for epidermolysis bullosa: results from the phase III randomized double-blind phase of the EASE study. British Journal of Dermatology. 2022;188(1):12-21. doi: Štublar A, Dragoš V, Dolenc-Voljč M. Inherited epidermolysis bullosa: epidemiology and patient care in Slovenia with a review of the updated classification. Acta Dermatovenerologica Alpina Pannonica et Adriatica. 2021;30(2). doi: Boeira VL, Souza ES, Rocha Bde O, et al. Inherited epidermolysis bullosa: clinical and therapeutic aspects. An Bras Dermatol. 2013;88(2):185-198. doi:10.1590/S0365-05962013000200001 Garrick N. Epidermolysis Bullosa. National Institute of Arthritis and Musculoskeletal and Skin Diseases. Published April 11, 2017. Accessed January 26, 2024. Hou PC, Del Agua N, Lwin SM, Hsu CK, McGrath JA. Innovations in the Treatment of Dystrophic Epidermolysis Bullosa (DEB): Current Landscape and Prospects. Ther Clin Risk Manag. 2023;19:455-473. Published 2023 Jun 14. doi:10.2147/TCRM.S386923 For more information, please contact marketing@pantherxrare.com SOURCE PANTHERx Rare

临床3期孤儿药上市批准临床结果

2023-12-20

·FiercePharma

After Amryt buyout, Chiesi scores with FDA nod for rare skin disease treatment Filsuvez

The FDA's approval of rare skin disease drug Filsuvez gives Chiesi Global Rare Diseases its third nod for a new drug from the U.S. regulator this year. Seven months after Krystal Biotech became the first company to gain FDA approval to treat the rare, devastating skin disease epidermolysis bullosa (EB), Chiesi Farmaceutici has followed suit. On Tuesday, the U.S. regulator gave a thumbs up to Chiesi’s Filsuvez (birch triterpenes) to treat both junctional epidermolysis bullosa (JEB) and dystrophic epidermolysis bullosa (DEB) in patients 6 months and older. While Krystal’s topical gene therapy Vyjuvek was endorsed by the FDA in May for DEB, Filsuvez becomes the first FDA-sanctioned treatment for both JEB and DEB. The topical gel treats the wounds associated with EB, a genetic, connective tissue disease that causes the skin to become fragile. Even the slightest friction can tear the skin and cause blisters. EB can be life-threatening as patients are at risk of developing aggressive squamous cell carcinomas and infections. The active ingredient in Filsuvez, which is found in birch trees, accelerates healing and reduces the size of the wound. “The FDA’s decision to approve Filsuvez provides those living with EB a safe and effective treatment option for the most prominent and difficult symptom of EB, open wounds that may not heal,” said Brett Kopelan, the executive director of debra of America, a non-profit that raises money and supports those with EB. This is the third FDA approval this year for Chiesi Global Rare Diseases, which was established in 2020 as one three business units of the family-owned Chiesi Group. The other FDA nods came for enzyme replacement therapies Elfabrio, which treats the neurological disorder Fabry disease, and Lamzede for the genetic condition alpha-mannosidosis, which causes a buildup of sugars in the organs. The FDA green light for Filsuvez was based on the phase 3 EASE trial, which showed significant increase in healing and wound closure compared to patients who received an active control gel, measured at 45 days. Filsuvez was rejected by the FDA in February of 2022, with the regulator asking for more efficacy data. Four months later, Europe endorsed the treatment for DEB and JEB. The drug was owned then by Amryt Pharma of Ireland. In January of this year, Chiesi acquired Amryt Pharma in a $1.25 billion buyout. Along with the purchase came three approved rare disease treatments—Juxtapid, for hypercholerterolemia, Myalept, for lipodystrophy, and Mycapssa, for acromegaly. With its launch of Filsuvez, Chiesi will face formidable competition. Krystal Biotech's launch of Vyvuvek has been so promising that ISI Evercore bumped up its projected 2024 sales of the gene therapy to $273 million.