Rare Disease clinical studies require a full-service CRO with expertise and experience in enrolling rare disease patients. This includes expertise in site selection and access to patient registries to accelerate patient enrolment, and global regulatory knowledge regarding the specific context of Rare Disease trials and Orphan diseases trials.

About 25% of drugs granted with an Orphan designation since 2015 were concentrated on 10 major indications.

Novotech experience in Rare and Orphan diseases

Novotech has conducted over 20 trials including these rare disease indications:

  • Acromegaly
  • Alport Syndrome
  • Alpha1antitrypsin deficiency
  • Cystic Fibrosis
  • Down Syndrome
  • Duchenne Muscular Dystrophy (DMD)
  • Fabry disease
  • Friedreich's ataxia
  • Gaucher's disease
  • Macular Telangiectasia Type 2
  • Growth Hormone Deficiency
  • Muscular Dystrophy
  • Peyronie's contracture
  • Paroxysmal nocturnal hemoglobinuria (PNH)


State of rare disease management in Southeast Asia. Shafie et al. Orphanet Journal of Rare Diseases (2016) 11:107. DOI 10.1186/s13023-016-0460
Challenges in orphan drug development and regulatory policy in China. Cheng and Xie Orphanet Journal of Rare Diseases (2017) 12:13. DOI 10.1186/s13023-017-0568-6