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Updated: Jun 29, 2025
Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Trends from two decades of orphan designations in paediatric rare neuromuscular diseases
Dinah M Duarte1, Maria Beatriz da Silva Lima2, Bruno Sepodes2
1INFARMED, National Authority of Medicines and Health Products, I.P.Lisboa, Portugal.
Insights
Limited treatments exist for paediatric rare neuromuscular diseases (PERAN). While many products have orphan designations, few are authorized, highlighting an ongoing unmet need for rare pediatric neuromuscular conditions.
Area of Science:
- Neurology
- Rare Diseases
- Pharmacology
Background:
- Paediatric rare neuromuscular diseases (PERAN) represent a significant unmet medical need with limited treatment options.
- Despite the EU orphan regulation since 2000, therapeutic advancements for PERAN remain scarce.
Purpose of the Study:
- To characterize orphan medicinal products (OMP) and orphan designations (OD) for PERAN over the past two decades.
- To assess the regulatory and clinical development landscape for treatments targeting rare paediatric neuromuscular diseases.
Main Methods:
- Observational, retrospective, cross-sectional study.
- Analysis of European Medicines Agency (EMA) Committee for Orphan Medicinal Products data.
- Review of authorized OMPs and ODs for PERAN from 2000 onwards.
Main Results:
- Approximately 50% of PERAN diseases have an active orphan designation, with half targeting Duchenne muscular dystrophy (DMD).
- Only six OMPs are currently authorized for PERAN, covering Spinal Muscular Atrophy (3), DMD (1), and Myasthenia Gravis (2).
- Despite some discontinued developments, most PERAN diseases have ongoing clinical trials, with over 50% in late-stage research.
Conclusions:
- A significant gap exists between orphan designations and authorized treatments for PERAN.
- Clinical development for PERAN is active, particularly for products with strong clinical data, suggesting future therapeutic progress.
Abstract:
Rare diseases are characterized by substantial unmet need mostly because the majority have limited, or no treatment options and a large number also affect children. Since the inception of EU orphan regulation in 2000 the European Medicines Agency Committee for Orphan Medicinal Products has received several applications for paediatric rare neuromuscular diseases (PERAN) however treatment options remain limited. Here we discuss the results form an observational, retrospective, cross-sectional study to characterize the currently authorised orphan medicinal products (OMP) and orphan designations (OD) given to products for PERAN in the last two decades. In the EU about half of PERAN diseases have at least one active OD approved since 2000, and about half of these are for Duchenne muscular dystrophy (DMD). The large majority of PERAN diseases do not have an authorised medicine with only 6 OMP currently authorised for Spinal muscular atrophy (3); DMD (1) and Myasthenia gravis (2). One in five products have inactive or discontinued regulatory development but clinical trials are ongoing for the vast majority of PERAN diseases, and more than half are in the final stage of clinical research with significantly more products with medical plausibility based in clinical data reaching advanced stages in clinical development.
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