Therapeutic Areas Rare Disease / Orphan Disease

Rare Disease / Orphan Disease

CTI is a leader in rare disease and orphan disease research with approximately 80% of our work falling into this category.  Successful rare disease drug/device development programs require experience, expertise, and dedication.  They are often fraught with challenges from designing an executable protocols to patient and investigator identification.  At CTI, we have the experience required and the resources necessary to support rare disease drug/device development from the regulatory planning stage through to marketing approval.  We have developed a unique feasibility process that includes peer-to-peer interaction to support protocol development, site/investigator identification, and can provide information critical to building customized enrollment strategies.  In addition to offering full clinical operations services, we have the ability to provide strategic regulatory consulting, work with patient support and advocacy groups, and develop/manage patient registries.  

William Aronstein, PhD, MD, FACP
Vice President, Medical Affairs
Dr. Aronstein's training at Johns Hopkins as well as other renowned institutions has provided the opportunity to develop relationships around the world, giving CTI significant reach within these important but small medical communities of rare diseases.

William Aronstein

Some of our adult and pediatric experience includes:

  • Adenovirus
  • Alport syndrome
  • Alzheimer's disease
  • Antibody mediated rejection (AMR)
  • Atypical hemolytic-uremic syndrome (aHUS)
  • Autoimmune hepatitis
  • BK/Polyomavirus
  • Βeta-Thalassemia
  • Bronchiolitis obliterans syndrome
  • Bronchopulmonary dysplasia
  • Cerebral adrenoleukodystrophy
  • Cerebrotendinous xanthomatosis (CTX)
  • Choroideremia
  • Creatine Transport Deficiency (CTD)
  • Cystinosis
  • Cytomegalovirus (CMV)
  • Delayed graft function (DGF)
  • Facioscapulohumeral muscular dystrophy
  • Focal segmental glomerulosclerosis (FSGS)
  • Glioblastoma
  • Graft versus host disease (GVHD)
  • Heparin-induced thrombocytopenia (HIT)
  • Hereditary orotic aciduria
  • Hunter’s Syndrome (mucopolysaccharidosis II)
  • Insomnia with Alzheimer's disease
  • Ischemia reperfusion injury (IRI)
  • Lymphangioleiomyomatosis (LAM)
  • Methotrexate-induced toxicity
  • Narcolepsy
  • Nonalcoholic steatohepatitis (NASH)
  • Niemann-Pick Disease
  • Pantothenate kinase-associated neurodegeneration (PKAN)
  • Pediatric diseases
  • Phenylketonuria
  • Polycythemia vera
  • Polyoma virus
  • Rare cancers
  • Sanfilippo B Syndrome (mucopolysaccharidosis IIIb)
  • Sickle cell disease 
  • Tuberous sclerosis
  • Urea cycle disorders
  • West syndrome
  • Wolman's disease (lysosomal acid lipase deficiency)
  • X-linked hypohidrotic ectodermal dysplasia

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Rare Disease Day

CTI is proud to support Rare Disease Day each year

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