Status:

WITHDRAWN

Digoxin for Congenital Erythrocytosis Due to Up-Regulated Hypoxia Sensing

Lead Sponsor:

University of Illinois at Chicago

Conditions:

Polycythemia; Familial

Erythrocytosis; Familial

Eligibility:

All Genders

18+ years

Phase:

PHASE1

Brief Summary

The investigators will study digoxin to inhibit the hypoxic response in congenital erythrocytosis due to germ line mutations that result in up-regulated hypoxia sensing. These forms of congenital eryt...

Detailed Description

The study will investigate digoxin to inhibit the hypoxic response in congenital erythrocytosis due to germ line mutations that result in up-regulated hypoxia sensing. These forms of congenital erythr...

Eligibility Criteria

Inclusion

  • Inclusion criteria. To be eligible to participate, an individual must meet all of the following criteria:
  • Have mutation of VHL (von Hippel Lindau), EGLN1 (encoding prolyl hydroxylase 2 \[PHD2\]) or EPAS1 (encoding HIF-2α) that has been associated with congenital erythrocytosis with upregulated hypoxia sensing.
  • Have an up-regulated hypoxic response defined by a hemoglobin concentration of greater than 15.5 g/dL in women and 17.5 g/dL in men in association with a serum EPO concentration that is increased above the reference range or that is in the reference range but above the expected level given the presence of erythrocytosis, i.e. above the lower quartile of the range.
  • Male or female, aged 18 years and older.
  • For females of reproductive potential: use of highly effective contraception for 1 month prior to screening and agreement to use such a method during study participation and for an additional two weeks after the end of digoxin administration.
  • Exclusion criteria. An individual who meets any of the following criteria will be excluded from participation:
  • Diagnosis of polycythemia vera or high oxygen affinity hemoglobinopathy.
  • End stage renal disease: estimated GFR \<15 mL/min/1.73 m2 or receiving hemodialysis or peritoneal dialysis.
  • Electrolyte imbalance: potassium \<3.5 mEq/L, magnesium \<1.8 mg/dL, or calcium \>10.7 mg/dL.
  • Hyperthyroidism (TSH \<0.3 U/ml and T4 \>12 μg/dL) or hypothyroidism (TSH \> 6 U/ml).
  • Myocarditis.
  • History of hypersensitivity, arrhythmia or severe gastrointestinal side effects related to digoxin.
  • Presence or history of any of the following conditions: first or second-degree AV block, Wolff-Parkinson-White Syndrome, other cardiac conduction abnormalities, or heart failure with preserved left ventricular systolic function including restrictive cardiomyopathy, constrictive pericarditis, amyloid heart disease, acute cor pulmonale and idiopathic hypertrophic subaortic stenosis.
  • Peripheral arterial disease or ischemic heart disease
  • Pregnancy

Exclusion

    Key Trial Info

    Start Date :

    November 10 2019

    Trial Type :

    INTERVENTIONAL

    Allocation :

    ACTUAL

    End Date :

    December 31 2024

    Estimated Enrollment :

    Patients enrolled

    Trial Details

    Trial ID

    NCT03433833

    Start Date

    November 10 2019

    End Date

    December 31 2024

    Last Update

    September 20 2024

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