Index

Rare Diseases:

WHO defines rare disease as often debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population. However, different countries have their own definitions to suit their specific requirements and in context of their own population, health care system and resources. The average prevalence thresholds used to define rare diseases ranges among different jurisdictions from 1 to 6 cases/10,000 people, with WHO recommending a prevalence less than 10/10,000 population for defining rare diseases.

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Challenge

A fundamental challenge in research and development for the majority of rare diseases is that there is relatively little known about the pathophysiology or the natural history of these diseases. Rare diseases are difficult to research upon as the patient pool is very small and it often results in inadequate clinical experience.

What's New

FDA Approves Mirdametinib for adults and children (2+ years) with Neurofibromatosis Type 1 (NF1) and inoperable symptomatic plexiform neurofibromas (PN).
FDA Approves Ctexli (Chenodiol) for the Treatment of Cerebrotendinous Xanthomatosis (CTX) in Adults
FDA approves Cabozantinib (Cabometyx®) for adult and pediatric patients aged 12 and older with previously treated, unresectable, locally advanced or metastatic, well-differentiated pancreatic neuroendocrine tumors (pNET) and extra-pancreatic neuroendocrine tumors (epNET).
FDA approves Vykat XR for managing hyperphagia (excessive hunger) in adults and children aged 4 years and older diagnosed with Prader-Willi syndrome.
FDA approved Fabhalta (iptacopan) for the treatment of adults with complement 3 glomerulopathy (C3G) to reduce proteinuria.
NORD Rare Diseases and Orphan Products Breakthrough Summit is scheduled for October 20-21, 2025, at Wasington, DC, this summit will bring together stakeholders to shape the future of rare disease treatments, research, and policy.

Stakeholders meeting: Muscular Dystrophy & related Inherited Disorders, April 11, 2025

Indian Council of Medical Research (ICMR) organized a key stakeholder meeting on Muscular Dystrophy and related inherited disorders at the Integrated Muscular Dystrophy Rehabilitation Center (IMDRC), Solan, Himachal Pradesh on April 11, 2025. The session opened with a welcome address underscoring ICMR’s strong commitment to advancing research and improving care for rare diseases in India. The meeting brought together clinicians, scientists, rehabilitation professionals, and public health experts from premier medical and research institutions across the country. Discussions covered recent developments in pediatric neurology, innovative therapies for conditions such as GNE myopathy, and forward-looking research strategies aimed at enhancing early diagnosis, treatment, and long-term care for muscular dystrophy patients.
Two insightful panel discussions enriched the day’s proceedings. The first focused on the holistic management of muscular dystrophies, emphasizing the importance of a multidisciplinary approach involving neurology, pediatric care, rehabilitation, and surgical support. Experts highlighted the need for integrated care plans, regular physiotherapy, and access to assistive technologies to support functional independence. The second panel explored coping strategies, with a focus on the role of community networks, caregiver involvement, and mental health. Participants from healthcare institutions and civil society organizations shared valuable insights on building inclusive support systems and raising awareness at the grassroots level to improve social integration and sustained care for patients and families.
A key highlight of the meeting was the site visit to the IAMD facility, which demonstrated a comprehensive, patient-centric model of care. The center features a hydrotherapy unit and a well-equipped physiotherapy wing tailored to the needs of muscular dystrophy patients.
This meeting concluded on a highly positive note, with ICMR reaffirming its commitment to strengthening support systems and fostering collaboration with all stakeholders in rare disease with reiterating the importance of patients groups working in the area. ICMR is actively supporting the development of innovative therapies, accessible treatment models, and inclusive care initiatives. The action points emerged from the meeting included the channelizing patients for early and accurate diagnosis in CoEs through patients groups and the landscaping of clinical trial preparedness in CoE’s and other leading centres involved in the treatment and management of rare disease patients by ICMR.

Recent project approvals

Small molecule and gene therapies for Glutaric Aciduria Type I, an Inborn Error of Metabolism (IEM) disorder
3D Bioprintable Hydrogel Implant Containing Engineered Cells for Long Term Treatment of Amyotrophic Lateral Sclerosis
Designing of RNA structure-guided antisense oligonucleotides to rescue SMN2 splicing for developing an indigenous therapy against spinal muscular atrophy
Generation and characterization of a pre-clinical model for the India-specific Agarwal founder mutations in Limb Girdle Muscular Dystrophy Type 2A
Development of Novel EV-based Therapeutic Strategies for the Treatment of Inherited Krabbe Disease, a Type of Lysosomal Storage Disease
Development of targeted nanotherapy for Spinal Muscular Atrophy