Research details
Karpagam Rare Diseases Research Centre (KRDRC) is dedicated to advancing support, research, and treatment accessibility for rare disease communities in India and globally.
Group 3:
Diseases for which definitive treatment is available but challenges are to make optimal patient selection for benefit, very high cost and lifelong therapy.
a) Based on the literature, sufficient evidence for good long-term outcomes exists for the following disorders:
- • Goucher Disease (Type I & III (without significant neurological impairment))
- • Hurler Syndrome [Mucopolysaccharisosis (MPS) Type I] (attenuated forms)
- • Hunter syndrome (MPS II) (attenuated form)
- • Pompe Disease (Both infantile & late onset diagnosed early before development of complications)
- • Fabry Disease diagnosed before significant end organ damage.
- • MPS IVA before development of disease complications.
- • MPS VI before development of disease complications.
- • DNAase for Cystic Fibrosis.
b) For the following disorders, the cost of treatment is very high and either long term follow up literature is awaited or has been done on small number of patients:
- • Cystic Fibrosis (Potentiators)
- • Duchenne Muscular Dystrophy (Antisense oligonucleotides, PTC)
- • Spinal Muscular Atrophy (Antisense oligonucleotides both intravenous & oral & gene therapy)
- • Wolman Disease
- • Hypophosphatasia
- • Neuronal ceroid lipofuscinosis
