Therapeutic Areas Rare Disease / Orphan Disease

Rare Disease / Orphan Disease

CTI is a leader in rare disease and orphan disease research with more than 3/4 of our active prospective studies in these therapeutic areas. Our rare disease work has been across more than 1000 sites in 40 countries, including over 6,000 patients globally.

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
  • Antibody mediated rejection (AMR)
  • Atypical hemolytic-uremic syndrome (aHUS)
  • Autoimmune hepatitis
  • BK virus
  • Βeta-Thalassemia
  • Bronchiolitis obliterans syndrome (BOS)
  • Bronchopulmonary dysplasia
  • Cerebrotendinous xanthomatosis (CTX)
  • Choroideremia
  • Childhood cerebral adrenoleukodystrophy (CCALD)
  • Cystinosis
  • Cytomegalovirus (CMV)
  • Distal renal tubular acidosis (dRTA)
  • Delayed graft function (DGF)
  • Facioscapulohumeral muscular dystrophy (FSHD)
  • Farber Disease
  • Focal segmental glomerulosclerosis (FSGS)
  • Glioblastoma
  • Glomerulopathy (C3G)
  • Graft versus host disease (GVHD)
  • Heparin-induced thrombocytopenia (HIT)
  • Hereditary orotic aciduria
  • Hurler Syndrome (mucopolysaccharidosis I, MPS I)
  • Hunter’s Syndrome (mucopolysaccharidosis II, MPS II)
  • Ischemia reperfusion injury (IRI)
  • Lymphangioleiomyomatosis (LAM)
  • Methotrexate-induced toxicity
  • Mitochondrial depletion syndrome (T2K deficiency)
  • Multiple myeloma
  • Muscular dystrophy
  • Narcolepsy
  • Niemann-Pick Type C
  • Pantothenate kinase-associated neurodegeneration (PKAN)
  • Paroxysmal nocturnal hemoglobinuria
  • Phenylketonuria
  • Polycythemia vera
  • Polyoma virus
  • Pompe disease
  • Sanfilippo A Syndrome (mucopolysaccharidosis IIIA, MPS IIIA)
  • Sanfilippo B Syndrome (mucopolysaccharidosis IIIB, MPS IIIB)
  • Sickle cell disease 
  • Tuberous sclerosis
  • Urea cycle disorders
  • West syndrome
  • Wolman's disease (lysosomal acid lipase deficiency)
  • X-linked creatine transport deficiency (CTD)
  • X-linked hypohidrotic ectodermal dysplasia (XLHED)

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Rare Disease Day

Rare Disease Day 2018

CTI is proud to support Rare Disease Day 2020 for the seventh year in a row!

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