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Edition of 13 May 2022

International News

RDI informal side-event to the World Health Assembly

Rare Diseases International will hold an informal side-event to the 75^th WHO’s World Health Assembly on 24 May 2022 entitled “Networking experts, centers of expertise and patient organizations to strengthen health systems for rare diseases”. The event will be an opportunity to discuss the framework for a Global Diseases Network and will gather stakeholders from RDI, WHO, Health Standards Organization, NORD, EURORDIS, the European Commission as well as representatives of national rare diseases programmes worldwide. Stakeholders will provide perspectives from patient organisations, hospital managers and clinical experts on the future of global networking for rare diseases and the importance of health equity across regions, building upon the 2022 global Rare Disease Day event at the World Expo in Dubai.

Campaign for the adoption of a Rare Disease strategy in Canada

The Canadian Organization for Rare Disorders (CORD) has launched a campaign for the formal adoption of a Rare Disease strategy in Canada. CORD is calling rare disease patients and Canadians in general to share their support for a rare disease strategy with MPs and provincial representatives and through social media posts in order to build an advocacy campaign in view of the expected release of the Canadian Strategy for Drugs for Rare Diseases later this year. CORD is calling for aligned federal and provincial rare disease strategies that ensure consistent and high levels of access to treatments for all Canadians with rare diseases, modernised regulatory processes to help accelerate access to treatments as well as a collaborative Canadian Network for Rare Diseases and the endorsement and adoption by all provinces and the federal government of Canada's Rare Disease Strategy.

European News

Launch of the European Health Data Space

On 3 May 2022, the European Commission has launched the European Health Data Space (EHDS). The EHDS will notably enhance access and use of health data for research, innovation, public health, and policy-making, including the field of rare diseases. It is hoped that the access to high quality and larger amount of data across EU Member States will facilitate the development of treatments for rare diseases; a field where information and data is key for research and therapy progress. Health data access bodies will be connected to the new decentralised EU-infrastructure for secondary use (HealthData@EU) which will be set up to support cross-border projects. In this regard, TEHDAS has identified the technical services needed for the EHDS in a new report. The report identifies basic software items for the exchange of data in the EU and includes four steps for the user to access health data, including data discovery, data permit application, data use and project finalisation.

Designing rare disease care pathways in the Republic of Ireland

A new study has been published in the Orphanet Journal of Rare Diseases that aims at developing a methodological approach to design rare disease care pathways in Ireland. The aim of the study is to fill the gap created by a lack of national models to evaluate rare disease pathways in Ireland. It has compared existing clinical practices against evidence-based clinical practice guidelines and best practice recommendations from the European Reference Networks. The study thus provides a template that can be used for future reference, as it is flexible and adaptable to different conditions and settings.

Health Economics

The economic burden of the neuromyelitis optica spectrum disorder

A new study has been published in the Orphanet Journal of Rare Diseases on the health utilities and costs of the neuromyelitis optica spectrum disorder in the United Kingdom. The study reveals the high economic burden of the disorder, both on the healthcare system and on the patients. The study also highlights that the disease, with a severity that increases over time, has a substantial impact on the caregivers, in terms of health expenditures and impediments to work due to the time dedicated to the patients, which affects their incomes. The study also shows the crucial negative impact of the disorder on the quality of life of the patients and their caregivers.

The national economic burden of rare diseases in the United States in 2019

A new study has been published in the Orphanet Journal of Rare Diseases on the economic burden of rare diseases in the US in 2019. The study presents the national economic burden by patient age and type of rare disease and highlights the need for policy action in the field of rare diseases in the US. Indeed, the study estimates that the economic burden of 379 rare diseases was around $1 trillion in 2019, including direct and indirect medical costs. The study thus calls for a better way to manage rare diseases in the country, notably in terms of developing and accessing treatments to ease the economic and social burdens they represent.

Orphan Drugs

Committee for Orphan Medicinal Products: Positive opinions for orphan designation

The COMP adopted 13 positive opinions recommending the following indications for designation as orphan medicinal products to the European Commission during their April 2022 meeting:

Limb-girdle muscular dystrophy
Inherited retinal dystrophies due to defects in the rpgr gene
Blastic plasmacytoid dendritic cell neoplasm
Hyper igm syndromes
Epidermolysis bullosa
Idiopathic pulmonary fibrosis
Spinal cord injury
Myopathic mitochondrial dna depletion syndrome
Focal segmental glomerulosclerosis
Fragile x syndrome
Amyotrophic lateral sclerosis
Noninsulinoma pancreatogenous hypoglycemia syndrome
Primary lymphatic malformations

Consult the April 2022 meeting report

CHMP grants market authorisation for 2 medicines

EMA’s Committee on Human Medicinal Products (CHMP) recommended 2 medicines for market authorisation at its April 2022 meeting:

Filsuvez* (birch bark extract) for the treatment of epidermolysis bullosa
Lunsumio* (mosunetuzumab) for the treatment of relapsed or refractory follicular lymphoma

Consult the April 2022 meeting report

21 indications granted an orphan designation by the FDA

In April 2022, the FDA has granted an orphan designation for the following 21 indications:

Treatment of X-Linked Adrenoleukodystrophy
Treatment of amyotrophic lateral sclerosis
Treatment of Multiple Myeloma
Treatment of Necrotizing Enterocolitis
Treatment of gastric cancer, including gastroesophageal Junction
Treatment of blastic plasmacytoid dendritic cell neoplasm
Treatment of Ohtahara Syndrome
Treatment of Uveal Melanoma
Treatment of Stargardt Disease
Treatment of Systemic sclerosis
Treatment of amyotrophic lateral sclerosis
Treatment of stage IIB-IV melanoma
Treatment of Congenital Muscular Dystrophy
Treatment of Rett Syndrome
Treatment of pulmonary fibrosis
Treatment of GM1 Gangliosidosis
Treatment of biliary tract cancer
Treatment of Pancreatic Cancer
Treatment of small cell lung cancer
Treatment of sarcoidosis

Quality of care

European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases

The European Academy of Neurology has published its guidance for developing and reporting clinical practice guidelines on rare neurological diseases. The guidance includes recommendations as well as practical examples with the aim to enhance clinical practice guidelines in the field of rare neurological diseases. The guidance is intended for researchers and clinicians working with the European Academy of Neurology and the ERNs with the overall aim to improve diagnosis and treatment of patients with rare neurological diseases.

Ethical, Legal and Social

The importance of psychological support for parents and caregivers of children with a rare disease at diagnosis

A new study has been published in the Rare Disease and Orphan Drugs Journal on the importance of psychological support for parents and caregivers of children with a rare disease at diagnosis. The study highlights the need for support pre, during and post diagnosis. The study shows that patients may suffer from a heavy psychological burden, including stress and anxiety while waiting for a diagnosis, thus requiring adequate support. The study also shows the importance of the way in which the diagnosis is announced and presents the SPIKES protocol as a tool to enhance the experience for both the clinician and the patient. Post diagnosis, families and caregivers require psychological support in order to avoid isolation. Support networks and group talks can help overcome the distress of the diagnosis and the burden it represents.

Quality of life

Quality of life of patients with distal renal tubular acidosis treated with ADV7103

A new study has been published in the Orphanet Journal of Rare Diseases analysing the quality of life of patients with distal renal tubular acidosis treated with the innovative ADV7103 treatment compared to the standard of care treatments used before. The study reveals that the majority of patients reported an enhanced quality of life notably due to the fact that ADV7103 is only administered twice daily as opposed to the previous standard of care which required more doses. The improvements were notably noticed in terms of school performances, social life and integration as well as on negative physical and emotional impacts. Parents also reported improved quality of life with ADV7103, including at work and with their daily lives.

Summary of the edition of 13 May 2022

Editorial
Political news
Scientific news
And also...