Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network

Abstract Background The European Medicine Agency granted marketing approval to 164 orphan medicinal products for rare diseases, among which 28 products intended for the treatment of hereditary metabolic diseases. Taking advantage of its privileged connection with 69 healthcare centres of excellence in this field, MetabERN, the European Reference Network for hereditary metabolic diseases, performed a survey asking health care providers from 18 European countries whether these products are available on the market, reimbursed and therefore accessible for prescription, and actually delivered in their centre. Results Responses received from 52 centres (75%) concerned the design of treatment plans, the access to marketed products, and the barriers to delivery. Treatment options are always discussed with patients, who are often involved in their treatment plan. Most products (26/28) are available in most countries (15/18). Among the 15 broadly accessible products (88.5% of the centres), 9 are delivered to most patients (mean 70.1%), and the others to only few (16.5%). Among the 10 less accessible products (40.2% of the centres), 6 are delivered to many patients (66.7%), and 4 are rarely used (6.3%). Information was missing for 3 products. Delay between prescription and delivery is on average one month. Beside the lack of availability or accessibility, the most frequent reasons for not prescribing a treatment are patients’ clinical status, characteristic, and personal choice. Conclusions Data collected from health care providers in the MetabERN network indicate that two-third of the orphan medicines approved by EMA for the treatment of hereditary metabolic diseases are accessible to treating patients, although often less than one-half of the patients with the relevant conditions actually received the approved product to treat their disease. Thus, in spite of the remarkable achievement of many products, patients concerned by EMA-approved orphan medicinal products have persistent unmet needs, which deserve consideration. The enormous investments made by the companies to develop products, and the high financial burden for the Member States to purchase these products emphasize the importance of a scrupulous appreciation of treatment value involving all stakeholders at early stage of development, before marketing authorization, and during follow up.

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Introduction to Endo-ERN–scope and mission

Endocrine ◽

10.1007/s12020-020-02602-z ◽

2021 ◽

Author(s):

Alberto M. Pereira ◽

Olaf Hiort

Keyword(s):

Health Care ◽

Health Care Providers ◽

Governance Structure ◽

Reference Network ◽

Care Providers ◽

European Reference Network ◽

Raising Awareness ◽

European Reference Networks ◽

Patient Representatives ◽

Low Prevalence

AbstractThe official installation of the European Reference Networks in 2017 formed the foundation to improve quality and safety and access to highly specialized health care across the EU for patients affected by rare or low prevalence and complex conditions. The European Reference Network on Rare Endocrine Conditions (Endo-ERN) covers specific expertise from birth to senescence with a specific governance structure characterized by both a pediatric and an adult chair, and equal responsibilities for patient representatives and health care providers. The introduction on the scope and mission of Endo describes the complexity of the Endo-ERN mission and will thrive toward the ultimate aim and mission of the network of reducing health care inequalities across Europe. Specific knowledge and medical expertise of the existing rare endocrine condition is urgently needed, and therefore, raising awareness for Rare Disease Day from the Endo-ERN perspective is imperative.

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Exploring patient education unmet needs for rare and complex connective tissue and musculoskeletal diseases: A survey of health care providers’ and patients’ expectations in Europe

Chronic Illness ◽

10.1177/1742395320968618 ◽

2020 ◽

pp. 174239532096861

Author(s):

Meryem-Maud Farhat ◽

Alain Cornet ◽

Charissa Frank ◽

Ilaria Galetti ◽

Juergen Grunert ◽

...

Keyword(s):

Health Care ◽

Patient Education ◽

Connective Tissue ◽

Health Care Providers ◽

Unmet Needs ◽

Musculoskeletal Diseases ◽

Connective Tissue Diseases ◽

Reference Network ◽

Care Providers ◽

European Reference Network

Objective The European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases involves health care providers (HCPs) from 8 European countries and 7 patients’ representatives of European Patient Advocacy Groups. The objective was to evaluate current practice and unmet needs for patient education (PE) in Europe. Methods A questionnaire was sent to HCP members asking about the PE practices and another, to enquire about their needs, was sent to patients’ associations in the different countries. Results The questionnaire was completed by 33 HCPs. Half had no specific staff members dedicated to PE. For HCPs with dedicated staff, 83.3% (n = 11) considered that care providers were insufficient to meet patients’ needs. Most of HCPs would like to see the practice of PE standardized. Sixty eight percent (n = 1093) of patients suffering from connective tissue diseases completed the questionnaire had never heard about PE. Most of them were interested in taking part in a PE program. Discussion Our survey revealed a strong interest in PE among patients and HCP and heterogeneity of practice. PE appeared important for both HCPs and patients. An online course for medical students in Europe will be developed in partnership with EULAR to respond to these unmet needs.

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Malpractice & Negligence: Cal. Supreme Court Clarifies Negligence Provisions under State’s Elder Abuse Act

The Journal of Law Medicine & Ethics ◽

10.1017/s1073110500012973 ◽

1999 ◽

Vol 27 (2) ◽

pp. 203-203

Author(s):

Kendra Carlson

Keyword(s):

Health Care ◽

Supreme Court ◽

Health Care Providers ◽

Elder Abuse ◽

Skilled Nursing Facility ◽

Pressure Sores ◽

Care Providers ◽

Nursing Facility ◽

Skilled Nursing ◽

The Supreme Court

The Supreme Court of California held, in Delaney v. Baker, 82 Cal. Rptr. 2d 610 (1999), that the heightened remedies available under the Elder Abuse Act (Act), Cal. Welf. & Inst. Code, §§ 15657,15657.2 (West 1998), apply to health care providers who engage in reckless neglect of an elder adult. The court interpreted two sections of the Act: (1) section 15657, which provides for enhanced remedies for reckless neglect; and (2) section 15657.2, which limits recovery for actions based on “professional negligence.” The court held that reckless neglect is distinct from professional negligence and therefore the restrictions on remedies against health care providers for professional negligence are inapplicable.Kay Delaney sued Meadowood, a skilled nursing facility (SNF), after a resident, her mother, died. Evidence at trial indicated that Rose Wallien, the decedent, was left lying in her own urine and feces for extended periods of time and had stage I11 and IV pressure sores on her ankles, feet, and buttocks at the time of her death.

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Using Technology to Improve Access to Health Care for Culturally and Linguistically Diverse Populations

Perspectives on Communication Disorders and Sciences in Culturally and Linguistically Diverse Populations ◽

10.1044/cds19.3.71 ◽

2012 ◽

Vol 19 (3) ◽

pp. 71-76 ◽

Cited By ~ 1

Author(s):

Pauline A. Mashima

Keyword(s):

Health Care ◽

Health Care Providers ◽

Access To Health Care ◽

Underserved Populations ◽

Linguistically Diverse ◽

Care Providers ◽

Department Of Health ◽

Use Of Technology ◽

Access To Health ◽

Improve Access

Important initiatives in health care include (a) improving access to services for disadvantaged populations, (b) providing equal access for individuals with limited or non-English proficiency, and (c) ensuring cultural competence of health-care providers to facilitate effective services for individuals from diverse racial and ethnic backgrounds (U.S. Department of Health and Human Services, Office of Minority Health, 2001). This article provides a brief overview of the use of technology by speech-language pathologists and audiologists to extend their services to underserved populations who live in remote geographic areas, or when cultural and linguistic differences impact service delivery.

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Interdisciplinary Therapy Assessments for the Older Adult

Perspectives on Gerontology ◽

10.1044/gero17.1.11 ◽

2012 ◽

Vol 17 (1) ◽

pp. 11-16

Author(s):

Lynn Chatfield ◽

Sandra Christos ◽

Michael McGregor

Keyword(s):

Older Adults ◽

Health Care ◽

Standardized Testing ◽

Health Care Providers ◽

Outcome Measurement ◽

Care Providers ◽

Patient Centered ◽

Screening Process ◽

Evidenced Based ◽

Changing Economy

In a changing economy and a changing industry, health care providers need to complete thorough, comprehensive, and efficient assessments that provide both an accurate depiction of the patient's deficits and a blueprint to the path of treatment for older adults. Through standardized testing and observations as well as the goals and evidenced-based treatment plans we have devised, health care providers can maximize outcomes and the functional levels of patients. In this article, we review an interdisciplinary assessment that involves speech-language pathology, occupational therapy, physical therapy, and respiratory therapy to work with older adults in health care settings. Using the approach, we will examine the benefits of collaboration between disciplines, an interdisciplinary screening process, and the importance of sharing information from comprehensive discipline-specific evaluations. We also will discuss the importance of having an understanding of the varied scopes of practice, the utilization of outcome measurement tools, and a patient-centered assessment approach to care.

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