FocusRegulatory Science

Protein Replacement Therapies for Rare Diseases: A Breeze for Regulatory Approval?

See allHide authors and affiliations

Science Translational Medicine  27 Mar 2013:
Vol. 5, Issue 178, pp. 178fs10
DOI: 10.1126/scitranslmed.3005007
  • Table 1. MPRTs that have entered clinical development or received regulatory approval.

    The number of candidates and development or approval status is listed by biological target. Plasma-derived products identified here may be approved in the EU at the national level and sold in individual EU countries. The full data set analyzed is in table S1.

    Replacement proteinDiseaseCandidate statusTerminated
    candidates directed to target
    Phase 1Phase 2Phase 3Approved
    Factor VIIaFactor VII deficiency---44
    Factor VIIIHemophilia A2-6252 (P2)35
    Factor IXHemophilia B-14131 (P1)19
    Factor XFactor X deficiency--112
    Factor XIFactor XI deficiency---22
    Factor XIIIFactor XIII deficiency--112
    vWFvon Willebrand disease--156
    Protein CProtein C deficiency---22
    Antithrombin IIIAntithrombin deficiency1--78
    FibrinogenFibrinogen deficiency---22
    C1-esterase inhibitorHereditary angioedema---55
    Alpha-1 proteinase inhibitor (α1-PI)α1-PI deficiency---42 (P2)6
    GlucocerebrosidaseGaucher disease--131 (P1)5
    Alpha-L-iduronidaseMucopolysaccharidosis I---11
    Iduronate sulfataseMucopolysaccharidosis II---11
    N-acetylgalactosamine-4-sulfataseMucopolysaccharidosis VI---11
    N-acetylgalactosamine-6-sulfataseMucopolysaccharidosis IVA--1-1
    Heparan sulfate sulfataseMucopolysaccharidosis IIIA-1--1
    Alpha-galactosidase AFabry disease---21 (P2)3
    Alpha-glucosidasePompe disease1--21 (P1), 1 (P2)5
    Acid sphingomyelinaseNiemann-Pick type B disease1---1
    Arylsulphatase AMetachromatic leukodystrophy----1 (P2)1
    Lysosomal acid lipase (LAL)LAL deficiency-1--1
    Sucrase-isomaltaseSucraseisomaltase deficiency---11
    Adenosine deaminase (ADA)ADA deficiency---11
    Insulin-like growth factor 1 (IGF-1)Primary IGF-1 deficiency---22
    Alkaline phosphataseHypophosphatasia-1--1
    Porphobilinogen deaminaseAcute intermittent porphyria----1 (P2)1
    Total: 29 protein targets for 29 monogenic diseases 55158511121

Additional Files

  • Supplementary Material for:

    Protein Replacement Therapies for Rare Diseases: A Breeze for Regulatory Approval?

    Jennifer A. Gorzelany* and Mark P. deSouza

    *Corresponding author. E-mail: jen{at}

    Published 27 March 2013, Sci. Transl. Med. 5, 178fs10 (2013)
    DOI: 10.1126/scitranslmed.3005007

    This PDF file includes:

    • Methods
    • Table S1

    [Download PDF]

Stay Connected to Science Translational Medicine

Navigate This Article