Long-Term Follow Up Study of Subjects Previously Administered HMI 102

• Conditions: Phenylketonuria; PAH Deficiency
• Interventions: Genetic: HMI-102

• Registration Number: NCT04348708
• Lead Sponsor: Homology Medicines, Inc

Brief Summary

An Open-Label, Long-Term Follow Up Study of Safety and Efficacy in PKU Subjects with PAH Deficiency Previously Administered HMI 102

Detailed Description

This Long-Term Follow Up Study will evaluate the safety and efficacy of PKU Subjects with PAH Deficiency Previously Administered HMI 102. Subjects will have already received a single dose of HMI-102 administered intravenously

Study Timeline

• Study First Submitted: 2020-04-13
• Study First Submitted QC: 2020-04-13
• Study First Posted: 2020-04-16
• Study Start: 2020-08-19
• Status Verified: 2022-06
• Last Update Submitted: 2022-06-28
• Last Update Posted: 2022-06-30
• Primary Completion: 2026-01-30
• Study Completion: 2026-12-01

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: All
• Target Recruitment: 21

Inclusion Criteria

• Subject was previously administered HMI 102.
• Subject is able to understand the purpose and risks of the study and is willing to provide informed consent.
• Subject is able to comply with all study procedures and long-term follow-up.

Exclusion Criteria

• Participation in the study is not in the subject's best interest, in the opinion of the Investigator.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Dose Level Cohort 2	HMI-102	Dose Level 2 of HMI-102 delivered intravenously one time
Dose Level Cohort 3	HMI-102	Dose Level 3 of HMI-102 delivered intravenously one time
Dose Level Cohort 1	HMI-102	Dose Level 1 of HMI-102 delivered intravenously one time

Primary Outcome Measures

Name	Time	Method
Incidence and severity of adverse events of special interest (AESIs) and serious adverse events (SAEs) related to HMI 102	Baseline to year 5	Subjects with at least one AESI or SAE

Secondary Outcome Measures

Name	Time	Method
Protein intake	Baseline to year 5	Protein intake relative to Phe concentration at each time point during the study
Plasma Phe Concentration	Baseline to year 5	Plasma phenylalanine (Phe) concentration at each time point during the study
Phe-restricted diet	Baseline to year 5	Incidence of subjects with a Phe-restricted diet
Phenylketonuria Quality of Life Questionnaire (PKU-QOL	Baseline to year 5	Quality of life (QOL), as assessed using the Phenylketonuria-QOL (PKU-QOL) questionnaire

Trial Locations

Locations (2)

Icahn School of Medicine at Mount Sinai; 🇺🇸 New York, New York, United States

Boston Children's Hospital; 🇺🇸 Boston, Massachusetts, United States