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Edition of 21 June 2022

International News

Canada: Quebec unveils its first policy on rare diseases

On June 2022, the Government of Québec has unveiled its first policy on rare diseases for the province following a consultation process involving 24 rare disease organisations as well as other organisations specialised in the field of rare diseases. The aim of this newly adopted policy is to ensure quality, safe and equitable health care access and services for rare disease patients and their families. The policy includes incentives to raise awareness on rare diseases among health professionals, as well as to facilitate access to diagnosis and information for rare disease patients in order to reduce the diagnosis odyssey. The policy also aims at promoting research, innovation and data collection in the field of rare diseases in order to help the estimated 700 000 citizens of Québec suffering from a rare disease. The government has committed to publish an Action Plan detailing the measures that will be put in place to meet these objectives, and will detail the financial scheme that will be used to implement the rare disease policy. The government will also carry out an impact assessment of the policy, notably on the health and well-being of people living with a rare disease in Québec.

Recommendations for effective evidence-based health policy making

A new study has been published in the Archive of Public Health journal providing policy recommendations by political science students for effective evidence-based policy making in the area of public health. These recommendations include increased patient representation and involvement in the process of policy making in order to build trust between citizens and policymakers. The second recommendation deals with ethics in the use of artificial intelligence and the need for increased regulation in this field in order to fully take advantage of the possibilities and opportunities offered by AI. The third recommendation included in this study is the urge to address the issue of conflicts of interests in policy making with regards to health policies, notably when financial ties between policy makers and industries are found to be. The last recommendation is to promote well-informed policies, notably through the use of FAIR (findable, accessible, interoperable and reusable) health data and practices and the establishment of universal guidelines. In this area, the study takes the example of TEHDAS, a European project aiming at developing FAIR principles for health data, while involving European citizens in the process that will also benefit them.

Global Survey on Rare Disease Diagnosis

RDI is partnering with the EURORDIS Rare Barometer Survey project to launch the Global Survey on the Journey to Diagnosis for Persons Living with a Rare Disease. This survey aims to identify factors that influence the process of obtaining a diagnosis and obstacles along the journey. The survey is available in 26 languages. Patients, parents, siblings or other family members, patient representatives and carers are invited to take part to the survey in order to collect relevant responses at the national level and for specific disease areas, while developing an image of the diagnostic journey for the global community.

European News

European Commission publishes reports on cross-border healthcare

The European has published a study supporting the evaluation of Directive 2011/24/EU to ensure patients’ rights in the EU in cross-border healthcare. The study reveals that while the directive provided a legal framework to cross-border healthcare, its effectiveness remains limited by proven long waiting times for patients and mitigated impact on patients’ access to cheaper and better health services abroad. The EC also published a report on the operation of the directive, notably highlighting the need for Members States to comply with the Directive’s provisions, including with regards to national policies currently  limiting patients’ access to cross-border healthcare and causing administrative burdens. Finally, a report on data on patient mobility under the directive from 2018-2020 has also been published. The report shows cross-border healthcare requests by patients has declined from 2018, notably in 2019-2020, essentially due to the COVID-19 pandemic. The report also highlights a decline in requests for reimbursement received and granted during the same period.

Stakeholders' consultation on EU4Health priorities, strategic orientations and needs

The European Commission has launched a targeted consultation for stakeholders on the current and future EU health priorities and strategic orientations, and on key health needs to be addressed through EU4Health annual Work Programmes. The consultation is open until 27 June 2022.

France: Official number of cases per rare disease

The French National Database on Rare Diseases (BNDMR) has published for the first time the number of rare disease patients registered in the database by disease, covering more than 4 600 rare diseases. This information provides visibility to patients and will help promote research and development of new therapies.

The BNDMR uses the Orphanet nomenclature of rare diseases to code the patients in the database. In the Orphanet nomenclature each clinical entity is assigned a unique and stable identifier: the ORPHAcode. It is regularly updated through systematic surveillance of the scientific literature, and diseases may be added, rendered obsolete, or declared not rare in Europe according the the evolution of knowledge on the disease.

The publication of the BNDMR is available in two versions: a national report (PDF format) which describes the methodology used to obtain the results, and which provides the number of cases recorded in the NDRD, for each rare disease (and therefore each ORPHAcode); and an Excel file for research purposes, to allow data re-use. The data were extracted from the BNDMR data warehouse on March 1, 2022, and were processed on the basis of the Orphanet nomenclature published in July 2021.

Read the report

To read more about “Download the reusable results”

Orphan Drugs

Committee for Orphan Medicinal Products: Positive opinions for orphan designation

The COMP adopted 22 positive opinions recommending the following indications for designation as orphan medicinal products to the European Commission during their May 2022 meeting:

Cystic fibrosis
Angelman syndrome
Gain-of-function mutations of stim1 and orai1 related diseases
SCN8A developmental and epileptic encephalopathy
Erythromelalgia
ATTR amyloidosis
Soft tissue sarcoma
Myelodysplastic syndromes
follicular lymphoma
Hyperphenylalaninaemia
Galactosaemia
Partial deep dermal and full thickness burns
Primary iga nephropathy
TBR1-related disorder
Osteogenesis imperfecta
Methylmalonic acidemia
Idiopathic pulmonary fibrosis
Chronic myeloid leukaemia
Hereditary angioedema
Lymphatic malformations
Retinopathy of prematurity
Neuronal ceroid lipofuscinosis

Consult the May 2022 meeting report

CHMP grants market authorisation for 4 medicines

EMA’s Committee on Human Medicinal Products (CHMP) recommended 4 medicines for market authorisation at its May 2022 meeting:

Upstaza* (eladocagene exuparvovec) for the treatment of aromatic L‑amino acid decarboxylase (AADC) deficiency
Xenpozyme* (olipudase alfa) for the treatment of two types of Niemann-Pick disease
Zokinvy* (ionafarnib) for the treatment of progeroid syndromes
Kinpeygo* (budesonide) for the treatment of primary immunoglobulin A nephropathy

Consult the May 2022 meeting report

31 indications granted an orphan designation by the FDA

In May 2022, the FDA has granted an orphan designation for the following 31 indications:

Treatment of Sickle Cell Disease
Treatment of glioblastoma
Treatment of Brain Cancer
Treatment of Angelman Syndrome
Treatment of Myelofibrosis
Treatment of Fragile X syndrome (FXS)
Treatment of Small Cell Lung Cancer (SCLC)
Peripheral T-cell Lymphoma (PTCL)
Treatment of myotonic dystrophy type 1
Treatment of primary failure of platelet recovery (PFPR) or secondary failure of platelet recovery (SFPR) in patients who have undergone allogeneic hematopoietic stem cell transplant (HSCT).
To treat patients undergoing myeloablative hematopoietic stem cell transplant conditioning to improve platelet recovery and reduce myeloablative bone marrow conditioning-related toxicities.
Treatment of glutaric aciduria type I
Treatment of Osteogenesis Imperfecta
Treatment of GM1-gangliosidosis
Treatment of Pancreatic Cancer
Treatment of beta thalassemia
Treatment of opioid withdrawal syndrome in the paediatric population
Treatment of Duchenne Muscular Dystrophy
Treatment of primary sclerosing cholangitis
Treatment of gastric cancer
Treatment of schwannoma
Treatment of multiple myeloma
Treatment of acute Graft-versus-host disease
Treatment of Wilson's Disease
Treatment of Stage IIb-IV Melanoma
Treatment of X-Linked Adrenoleukodystrophy (ALD)
Treatment of hypoparathyroidism
Treatment of phenylalanine hydroxylase deficiency
Treatment of tissue-agnostic RET fusion-positive solid tumours
Treatment of retinal artery occlusion (RAO).
Treatment of Huntington disease

Quality of care

Care coordination strategy for people living with rare conditions

A new study has been published in the Orphanet Journal of Rare Diseases aiming at developing a strategy for care coordination for rare disease patients in the UK. The study provides a taxonomy of care. This taxonomy covers the geographical organisation of care, such as national centres as well hybrid (hubs and spokes) and local care; and the possible division of labour between these centres. The taxonomy also addresses the collaboration between healthcare professionals and care providers, including in the form of multidisciplinary meetings and joint clinics. The study reveals the need for predesignated roles and responsibility, notably between healthcare professionals and patient organisations. The study also highlights the need for increased information sharing between healthcare providers and patients, as well as among healthcare professionals, notably on patient records. The study identifies possible modes of information sharing such as digital, written and verbal.

Mental health care of rare disease patients in the UK

A new study has been published in the BMC Health Services Research journal on the impact of rare diseases on the mental health of patients in the United Kingdom. The study reveals the considerable consequences of living with a rare condition on patients’ mental health, notably due to the stress and anxiety induced by the lack of professional knowledge of their condition. Patients expressed frustration and anger, including due to the impediments they experience in their daily lives caused by their diseases as well as the barriers they face in accessing diagnosis and care. The study also reveals that the majority of healthcare professional do not discuss aspects of mental health with patients, highlighting the need to increase awareness and communication on the issue between healthcare providers and their patients.

Ethical, Legal and Social

The experiences of parents of children with lysosomal acid lipase deficiency in the UK

A new study has been published in the Orphanet Journal of Rare Diseases describing the effects of having a child diagnosed with lysosomal acid lipase deficiency on parents in the UK. The study reveals that parents are greatly impacted by the diagnosis of their children, notably due to the lack of knowledge they usually have on the condition, which results in stress and anxiety, and a feeling of helplessness and self-blame. The study highlights the need for psychological support dedicated to parents with children with lysosomal acid lipase deficiency, notably following the diagnosis.

Quality of life

Health-related quality of life among children and adults with rare diseases in the US

A new study has been published in the Orphanet Journal of Rare Diseases aiming at evaluating the healthcare access, satisfaction, and health-related quality of life among children and adults with rare diseases in the United States. The study reveals that rare diseases patients often face a diagnosis odyssey, coupled with misdiagnosis at times, and lack of information on their condition. In addition to the physical symptoms of their conditions, patients also suffer from anxiety and stigma due to their disease. The study highlights the urgent need for appropriate medical and social support for patients with rare diseases in the US.

Evaluating the health-related quality of life of the rare disease population in Hong Kong

A new study has been published in the Value in Health journal on health-related quality of life of the rare disease population in Hong Kong. The study reveals that rare diseases have a negative impact on the health-related quality of life of patients, notably compared to patients with chronic diseases. This finding is particularly true for patients with neurologic disorders. The study also shows that patients with rare diseases suffer from a lack of adequate diagnosis and treatments in Hong Kong, adding challenges to their conditions.

The impact of living with spinal muscular atrophy in Malaysia

A new study has been published in the Orphanet Journal of Rare Diseases aiming at analysing the impact of living with spinal muscular atrophy in Malaysia on the patients and their caregivers. The study reveals that patients with spinal muscular atrophy suffer from psychological consequences notably due to the uncertainty surrounding their condition, as well as due to the challenges they face in obtaining a diagnosis and the lack of knowledge on rare diseases by healthcare professionals in Malaysia. The study highlights the need for better social inclusion of patients with spinal muscular atrophy in Malaysia as well as increased education and awareness on the disease.

Summary of the edition of 21 June 2022

Editorial
Political news
Scientific news
And also...