Rare Disease Day 2025
February 28, 2025
We support Rare Disease Day (RDD) 2025!
Since 2008, the last day of February has been dedicated to raising public awareness of rare diseases. Each rare disease affects less than 1 in 2,000 people, but because nearly 7,000 rare diseases have been identified so far, altogether these diseases concern more than 300 million people worldwide (excluding caregivers)!
The European campaign is coordinated by EURORDIS-Rare Diseases Europe. This year, the slogan is “More than you can imagine“.
Rare Diseases at Santé Active Edition ─ Synergy Pharm
As part of this campaign, we have published several posts on our LinkedIn page over the past few weeks to highlight rare diseases and issues related to this field, focusing on projects that our medical and scientific writing team has supported in recent months.
Nail-Patella Syndrome
Nail-Patella syndrome (NPS), also called osteo-onychodysplasia, is a rare genetic multisystem disease associated with chronic pain that is very often difficult to manage with conventional analgesics. These patients can receive palliative care to improve their quality of life.
Based on clinical experience and previous research, Prof. Céline Gréco (Head of the Department of Pain and Palliative Medicine at the Necker-Enfants Malades Hospital, Paris, France) investigated managing persistent chronic pain in individuals with NPS using a 3-month oral treatment with synthetic cannabidiol (CBD). Synthetic CBD is made from the D-Limonene of orange peels; this THC-free molecule has no psychoactive effects. It acts directly on pain neurotransmitters, the expression of which is dysregulated by the LMX1b mutation involved in NPS.
Real-world data, collected in Prof. Gréco’s department from a pilot cohort of 32 patients, were analyzed to evaluate the effectiveness of this new treatment. The results of this study were recently published in Scientific Reports, a Nature Portfolio journal. In this research article, the authors showed that the treatment of patients with NPS using medical CBD (median dose of 900 mg/day) led to a significant reduction in pain intensity, as well as an improvement in health-related quality of life and other NPS-associated symptoms in most participants. Overall, this treatment was well tolerated.
Medical CBD is therefore a very promising treatment for the management of chronic pain in patients with NPS. Other patients with chronic neurological pain could also benefit from this treatment. Further research on medical CBD is needed to better understand the mechanisms involved in its effects on pain and its neuropsychological impact in treated patients.
Inherited Metabolic Diseases (IMDs)
Inherited metabolic diseases (IMDs), also known as inborn errors of metabolism (IEMs), result from deficiencies of an enzyme or transporter involved in metabolic pathways. More than 1,000 IMDs have been identified so far! They are classified into three groups according to their pathophysiology: intoxication-type disorders, energy deficiency disorders, and disorders of complex molecules.
In France, patients with IMDs are managed by highly specialized experts in a reference center or a competence center belonging to the National IMD Healthcare Network for Rare Diseases, known as G2M. However, these patients may require emergency care, and healthcare professionals (HCPs) initiating emergency treatment may not be familiar with all of these rare diseases. A multidisciplinary working group from the G2M network has developed more than 50 short and standardized protocols focused on a specific disease, a group of diseases or a particular symptom, to provide HCPs with practical guidance for the immediate management of all IMD patients requiring emergency care. Some protocols were developed in collaboration with specialists from other French rare diseases networks (MHEMO, Cardiogen, Filfoie and FIRENDO). All the protocols were systematically reviewed by physicians from emergency department and intensive care units, as well as by anesthesiologists, general practitioners and patient associations.
All the emergency protocols are freely available in French and English at https://www.filiere-g2m.fr/urgences. An article describing how these valuable tools were developed was published in Molecular Genetics and Metabolism (MGM): https://pubmed.ncbi.nlm.nih.gov/39305737/
Gaucher Disease
Gaucher disease (GD) is an IMD caused by a deficiency in the activity of the lysosomal enzyme glucocerebrosidase, leading to the accumulation of “Gaucher Cells” in organs such as the liver, spleen and bone marrow. GD is a heterogeneous multisystemic disease and three clinical forms have been described. Type 1 Gaucher disease (GD1) is the most common form and is associated with varying degrees of organomegaly, cytopenia, and bone involvement. The bone manifestations in GD1 are a major cause of pain and disability and require regular monitoring.
GD1 is one of the few rare diseases for which effective treatments are available. Velaglucerase alfa, an enzyme replacement therapy, is one of the main treatments for GD1. Analyses of data from national and international patient registries have provided evidence of the long-term effectiveness of velaglucerase alfa for treating the visceral and hematological manifestations of GD1. However, due to the complexity of the bone manifestations, less is known about the real-world impact of this treatment on the evolution of GD1 bone disease.
To fill this knowledge gap, Dr. Nadia Belmatoug (Referral Center for Lysosomal Diseases, Beaujon Hospital, Paris, France) and colleagues working in other French hospitals with expertise in managing patients with GD, used magnetic resonance imaging (MRI) data collected in French clinical practice to monitor the bone disease in 20 patients with GD1 treated with velaglucerase alfa. The MRIs were analyzed centrally by a blinded expert radiologist to provide both a semi-quantitative measure of bone involvement (the Bone Marrow Burden (BMB) score) and a qualitative assessment of stable, improved or worsening bone involvement. The results provided evidence of the real-world long-term effectiveness of the treatment on GD1 bone manifestations, with improvements in MRI parameters during the first five years of treatment and stable bone disease in patients on longer-term treatment. The study also provided valuable insights into current patient monitoring protocols in France, and suggested that a simplified qualitative assessment may be sufficient in clinical practice for monitoring bone disease progression and treatment responses when MRI assessment by radiologists with experience of GD is not possible
You can find out more by reading the full article, which was published in the Journal of Clinical Medicine: https://pubmed.ncbi.nlm.nih.gov/38792468/
Rare diseases: medical research is ongoing…
In 2024, our medical and scientific writing team also supported several clients upstream of publication, assisting in the drafting of regulatory and clinical dossiers related to rare diseases: two clinical study protocols (CSPs) and related documents, and two clinical study reports (CSRs).
Currently, treatments are available for only 5% of rare diseases!
Medical research is dynamic, but the small number of patients affected by each rare disease and the large number of rare diseases (almost 7,000 identified so far!) make it difficult to acquire knowledge about these diseases and develop dedicated treatments. In order to facilitate and accelerate the development of treatments, the European research project INVENTS (Innovative designs, extrapolation, simulation methods and evidence-tools for rare diseases addressing regulatory needs), funded by the European Commission’s Horizon Europe program and coordinated by INSERM, aims to develop new assessment methods specifically adapted to these constraints.
Patient Involvement in Rare Disease Research
Patients and patient associations are increasingly involved in research, particularly in the field of rare diseases. Their experiences are increasingly being recognized as key elements for improving medical research and health care outcomes! We recently highlighted the change in terminology in the latest update of the Declaration of Helsinki, which sets out ethical principles applicable to medical research involving human participants. The use of the word “participants” instead of “human subjects”, “those who are involved” or “patients” underlines the commitment of healthy volunteers and patients as partners in research.
As a result, patients can also be involved in the drafting of scientific articles and be authors of publications! Good practice recommendations such as those of the ICMJE are in favor of the inclusion of patients as authors of scientific publications. Angélique SAUVESTRE VARELA, president of the Debra France association and mother of a little girl with epidermolysis bullosa, is one of the authors of an article to which our medical and scientific editorial team contributed: https://pubmed.ncbi.nlm.nih.gov/36545933/.
Find out more about craniofacial microsomia, cystic fibrosis, inherited epidermolysis bullosa, and rare inflammatory diseases of the brain and spinal cord, and about the challenges associated with rare diseases in our previous news articles: