Gene Therapy Clinical Study in Adult PKU (pheNIX)

  • End date
    Sep 21, 2023
  • participants needed
  • sponsor
    Homology Medicines, Inc
Updated on 9 February 2022
gene therapy
pah gene


This is a Phase 1/2, open-label, randomized, concurrently-controlled, dose escalation study to evaluate the safety and efficacy of HMI-102 in adult PKU subjects with PAH deficiency. Participants will receive a single administration of HMI-102 and will be followed for safety and efficacy for 1 year.


Part 1 of this study will evaluate the safety and efficacy of HMI-102 gene therapy in adult subjects with PKU due to PAH deficiency. Subjects will receive a single dose of HMI-102 administered intravenously. Up to 3 dose levels of HMI-102 may be investigated in this study. At a given dose level, a minimum of 2 subjects will be enrolled and dosed. Dosing of the first two subjects will be staggered. Following evaluation of data from the first 2 subjects in a cohort, a decision can be made to either escalate to the next dose level or expand the cohort at the selected dose level. Additional doses may be added by HMI to investigate intermediate or higher doses.

In Part 2 dose expansion, evaluation of up to 2 dose levels is planned. Subjects will be randomized to receive HMI-102 or a concurrent delayed treatment control arm. Subjects in the delayed treatment control will be eligible to receive HMI-102 after 28 weeks.

Condition Phenylketonurias, PAH Deficiency
Treatment HMI-102
Clinical Study IdentifierNCT03952156
SponsorHomology Medicines, Inc
Last Modified on9 February 2022


Yes No Not Sure

Inclusion Criteria

Adults 18-55 years of age at the time of informed consent
Diagnosis of phenylketonuria (PKU) due to PAH deficiency
Two plasma Phe values with a concentration of 600 mol/L drawn at least 72 hours apart during the screening period and at least one historical value 600 mol/L in the preceding 24 months
Subject has the ability and willingness to maintain their baseline diet, whether Phe-restricted or unrestricted for the duration of the trial, unless otherwise directed

Exclusion Criteria

Subjects with PKU that is not due to PAH deficiency
Presence of anti-AAVHSC15 neutralizing antibodies
Alkaline phosphatase > ULN
Total bilirubin > ULN, direct bilirubin > ULN
Serum creatinine >1.5x ULN
International normalized ratio (INR) > 1.2
Hematology values outside of the normal range (hemoglobin <11.0 g/dL for males or <10.0 g/dL for females; white blood cells (WBC) <3,000/L; absolute neutrophils <1500/L; platelets <100,000/L)
Any clinically significant abnormal laboratory result at screening, in the opinion of the Investigator
Hemoglobin A1c >6.5% or fasting glucose >126 mg/dL
Contraindication to corticosteroid use or conditions that could worsen in the presence of corticosteroids, as assessed and determined by the investigator
Previously received gene therapy for the treatment of any condition
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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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