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 1:
Disorders amenable to one-time curative treatment:
a) Disorders amenable to treatment with Hematopoietic Stem Cell Transplantation (HSCT)
- • Such Lysosomal Storage Disorders (LSDs) for which Enzyme Replacement Therapy (ERT) is presently not available and severe form of Mucopolysaccharoidosis (MPS) type 1 within first 2 years of age.
- • Adrenoleukodystrophy (early stages), before the onset of hard neurological signs.
- • Immune deficiency disorders like Severe Combined Immunodeficiency
- • (SCID), Chronic Granulomatous disease, Wiskot Aldrich Syndrome etc.
- • Osteopetrosis
- • Fanconi Anemia
b) Disorders Amenable to Organ Transplantation
Liver Transplantation - Metabolic Liver Diseases
- • Tyrosinemia
- • Glycogen storage disorders (GSD) I, III and IV due to poor metabolic control, multiple liver adenomas, or high risk for Hepatocellular carcinoma or evidence of substantial cirrhosis or liver dysfunction or progressive liver failure
- • MSUD (Maple Syrup Urine Disease)
- • Urea cycle disorders
- • Organic acidemias
Renal Transplantation
- • Fabry disease
- • Autosomal recessive Polycystic Kidney Disease (ARPKD)
- • Autosomal dominant Polycystic Kidney Disease (ADPKD)
Combined Transplantation
Patients requiring combined liver and kidney transplants can also be considered if the same ceiling of funds is maintained. (Rarely Methyl Malonicaciduria may require combined liver & Kidney transplant)
