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Moderately severe hemophilia B

MedGen UID:
1842225
•Concept ID:
C5679575
•
Disease or Syndrome
Synonyms: Moderate congenital F9 deficiency; Moderate congenital factor IX deficiency; Moderate hemophilia B; moderately severe factor IX deficiency; moderately severe haemophilia type B; moderately severe hemophilia B; moderately severe hemophilia type B
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015716
Orphanet: ORPHA169796

Definition

A moderately severe form of hemophilia B characterized by factor IX deficiency (biological activity 1-5 IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages are rare. The condition primarily affects males but may also be observed in female carriers of disease-causing mutations. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVModerately severe hemophilia B

Professional guidelines

PubMed

Etranacogene dezaparvovec for the treatment of adult patients with severe and moderately severe hemophilia B.
Castaman G, Coppens M, Pipe SW
Expert Rev Hematol 2023 Jul-Dec;16(12):919-932. Epub 2023 Dec 18 doi: 10.1080/17474086.2023.2276206. PMID: 37882214
Comprehensive analysis and prediction of long-term durability of factor IX activity following etranacogene dezaparvovec gene therapy in the treatment of hemophilia B.
Shah J, Kim H, Sivamurthy K, Monahan PE, Fries M
Curr Med Res Opin 2023 Feb;39(2):227-237. Epub 2022 Oct 25 doi: 10.1080/03007995.2022.2133492. PMID: 36285399

Recent clinical studies

Etiology

Etranacogene dezaparvovec for the treatment of adult patients with severe and moderately severe hemophilia B.
Castaman G, Coppens M, Pipe SW
Expert Rev Hematol 2023 Jul-Dec;16(12):919-932. Epub 2023 Dec 18 doi: 10.1080/17474086.2023.2276206. PMID: 37882214
Phase 1-2 Trial of AAVS3 Gene Therapy in Patients with Hemophilia B.
Chowdary P, Shapiro S, Makris M, Evans G, Boyce S, Talks K, Dolan G, Reiss U, Phillips M, Riddell A, Peralta MR, Quaye M, Patch DW, Tuddenham E, Dane A, Watissée M, Long A, Nathwani A
N Engl J Med 2022 Jul 21;387(3):237-247. doi: 10.1056/NEJMoa2119913. PMID: 35857660
Safety, Immunogenicity, and Hemostatic Efficacy of Nonacog Gamma in Patients With Severe or Moderately Severe Hemophilia B: A Continuation Study.
Windyga J, Stasyshyn O, Lissitchkov T, Mamonov V, Serban M, Rusen L, Ploder B, Tangada S
Clin Appl Thromb Hemost 2020 Jan-Dec;26:1076029620950836. doi: 10.1177/1076029620950836. PMID: 32866032Free PMC Article
Phase 3 Clinical Trial: Perioperative Use of Nonacog Gamma, a Recombinant Factor IX, in Previously Treated Patients With Moderate/Severe Hemophilia B.
Windyga J, Timofeeva M, Stasyshyn O, Mamonov V, Lamas Castellanos JL, Lissitchkov T, Chojnowski K, Chapman M, Pavlova BG, Tangada S
Clin Appl Thromb Hemost 2020 Jan-Dec;26:1076029620946839. doi: 10.1177/1076029620946839. PMID: 32816519Free PMC Article
Pharmacokinetics, Efficacy, and Safety of Nonacog Alfa in Previously Treated Patients with Moderately Severe to Severe Hemophilia B.
Korth-Bradley JM, Rendo P, Smith L, Altisent C
Clin Ther 2016 Apr;38(4):936-44. Epub 2016 Mar 8 doi: 10.1016/j.clinthera.2016.02.015. PMID: 26969334

Diagnosis

The safety and efficacy of recombinant human blood coagulation factor IX in previously untreated patients with severe or moderately severe hemophilia B.
Shapiro AD, Di Paola J, Cohen A, Pasi KJ, Heisel MA, Blanchette VS, Abshire TC, Hoots WK, Lusher JM, Negrier C, Rothschild C, Roth DA
Blood 2005 Jan 15;105(2):518-25. Epub 2004 Sep 21 doi: 10.1182/blood-2004-06-2283. PMID: 15383463

Therapy

Etranacogene dezaparvovec for the treatment of adult patients with severe and moderately severe hemophilia B.
Castaman G, Coppens M, Pipe SW
Expert Rev Hematol 2023 Jul-Dec;16(12):919-932. Epub 2023 Dec 18 doi: 10.1080/17474086.2023.2276206. PMID: 37882214
Comprehensive analysis and prediction of long-term durability of factor IX activity following etranacogene dezaparvovec gene therapy in the treatment of hemophilia B.
Shah J, Kim H, Sivamurthy K, Monahan PE, Fries M
Curr Med Res Opin 2023 Feb;39(2):227-237. Epub 2022 Oct 25 doi: 10.1080/03007995.2022.2133492. PMID: 36285399
Phase 1-2 Trial of AAVS3 Gene Therapy in Patients with Hemophilia B.
Chowdary P, Shapiro S, Makris M, Evans G, Boyce S, Talks K, Dolan G, Reiss U, Phillips M, Riddell A, Peralta MR, Quaye M, Patch DW, Tuddenham E, Dane A, Watissée M, Long A, Nathwani A
N Engl J Med 2022 Jul 21;387(3):237-247. doi: 10.1056/NEJMoa2119913. PMID: 35857660
Safety, Immunogenicity, and Hemostatic Efficacy of Nonacog Gamma in Patients With Severe or Moderately Severe Hemophilia B: A Continuation Study.
Windyga J, Stasyshyn O, Lissitchkov T, Mamonov V, Serban M, Rusen L, Ploder B, Tangada S
Clin Appl Thromb Hemost 2020 Jan-Dec;26:1076029620950836. doi: 10.1177/1076029620950836. PMID: 32866032Free PMC Article
Pharmacokinetics, Efficacy, and Safety of Nonacog Alfa in Previously Treated Patients with Moderately Severe to Severe Hemophilia B.
Korth-Bradley JM, Rendo P, Smith L, Altisent C
Clin Ther 2016 Apr;38(4):936-44. Epub 2016 Mar 8 doi: 10.1016/j.clinthera.2016.02.015. PMID: 26969334

Prognosis

Comprehensive analysis and prediction of long-term durability of factor IX activity following etranacogene dezaparvovec gene therapy in the treatment of hemophilia B.
Shah J, Kim H, Sivamurthy K, Monahan PE, Fries M
Curr Med Res Opin 2023 Feb;39(2):227-237. Epub 2022 Oct 25 doi: 10.1080/03007995.2022.2133492. PMID: 36285399
Phase 1-2 Trial of AAVS3 Gene Therapy in Patients with Hemophilia B.
Chowdary P, Shapiro S, Makris M, Evans G, Boyce S, Talks K, Dolan G, Reiss U, Phillips M, Riddell A, Peralta MR, Quaye M, Patch DW, Tuddenham E, Dane A, Watissée M, Long A, Nathwani A
N Engl J Med 2022 Jul 21;387(3):237-247. doi: 10.1056/NEJMoa2119913. PMID: 35857660
Pharmacokinetics, Efficacy, and Safety of Nonacog Alfa in Previously Treated Patients with Moderately Severe to Severe Hemophilia B.
Korth-Bradley JM, Rendo P, Smith L, Altisent C
Clin Ther 2016 Apr;38(4):936-44. Epub 2016 Mar 8 doi: 10.1016/j.clinthera.2016.02.015. PMID: 26969334

Clinical prediction guides

Comprehensive analysis and prediction of long-term durability of factor IX activity following etranacogene dezaparvovec gene therapy in the treatment of hemophilia B.
Shah J, Kim H, Sivamurthy K, Monahan PE, Fries M
Curr Med Res Opin 2023 Feb;39(2):227-237. Epub 2022 Oct 25 doi: 10.1080/03007995.2022.2133492. PMID: 36285399
Phase 1-2 Trial of AAVS3 Gene Therapy in Patients with Hemophilia B.
Chowdary P, Shapiro S, Makris M, Evans G, Boyce S, Talks K, Dolan G, Reiss U, Phillips M, Riddell A, Peralta MR, Quaye M, Patch DW, Tuddenham E, Dane A, Watissée M, Long A, Nathwani A
N Engl J Med 2022 Jul 21;387(3):237-247. doi: 10.1056/NEJMoa2119913. PMID: 35857660
Phase 3 Clinical Trial: Perioperative Use of Nonacog Gamma, a Recombinant Factor IX, in Previously Treated Patients With Moderate/Severe Hemophilia B.
Windyga J, Timofeeva M, Stasyshyn O, Mamonov V, Lamas Castellanos JL, Lissitchkov T, Chojnowski K, Chapman M, Pavlova BG, Tangada S
Clin Appl Thromb Hemost 2020 Jan-Dec;26:1076029620946839. doi: 10.1177/1076029620946839. PMID: 32816519Free PMC Article
Pharmacokinetics, Efficacy, and Safety of Nonacog Alfa in Previously Treated Patients with Moderately Severe to Severe Hemophilia B.
Korth-Bradley JM, Rendo P, Smith L, Altisent C
Clin Ther 2016 Apr;38(4):936-44. Epub 2016 Mar 8 doi: 10.1016/j.clinthera.2016.02.015. PMID: 26969334

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