NCT04348708

Brief Summary

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

Trial Health

75
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
21

participants targeted

Target at below P25 for all trials

Timeline
7mo left

Started Aug 2020

Longer than P75 for all trials

Geographic Reach
1 country

2 active sites

Status
enrolling by invitation

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress91%
Aug 2020Dec 2026

First Submitted

Initial submission to the registry

April 13, 2020

Completed
3 days until next milestone

First Posted

Study publicly available on registry

April 16, 2020

Completed
4 months until next milestone

Study Start

First participant enrolled

August 19, 2020

Completed
5.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 30, 2026

Completed
10 months until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2026

Expected
Last Updated

June 30, 2022

Status Verified

June 1, 2022

Enrollment Period

5.5 years

First QC Date

April 13, 2020

Last Update Submit

June 28, 2022

Conditions

Keywords

PKUPhenylketonuriaPAH DeficiencyPhenylalanineAdeno Associated VirusAAVHSC15

Outcome Measures

Primary Outcomes (1)

  • Incidence and severity of adverse events of special interest (AESIs) and serious adverse events (SAEs) related to HMI 102

    Subjects with at least one AESI or SAE

    Baseline to year 5

Secondary Outcomes (4)

  • Plasma Phe Concentration

    Baseline to year 5

  • Phe-restricted diet

    Baseline to year 5

  • Phenylketonuria Quality of Life Questionnaire (PKU-QOL

    Baseline to year 5

  • Protein intake

    Baseline to year 5

Study Arms (3)

Dose Level Cohort 1

Dose Level 1 of HMI-102 delivered intravenously one time

Genetic: HMI-102

Dose Level Cohort 2

Dose Level 2 of HMI-102 delivered intravenously one time

Genetic: HMI-102

Dose Level Cohort 3

Dose Level 3 of HMI-102 delivered intravenously one time

Genetic: HMI-102

Interventions

HMI-102GENETIC

HMI-102 is an AAVHSC15 vector containing a functional copy of the human PAH gene

Dose Level Cohort 1Dose Level Cohort 2Dose Level Cohort 3

Eligibility Criteria

Age18 Years - 55 Years
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64)
Sampling MethodNon-Probability Sample
Study Population

Subjects with PAH Deficiency who were previously administered HMI-102

You may qualify if:

  • 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.

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Location

Icahn School of Medicine at Mount Sinai

New York, New York, 10029, United States

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Neutralizing AAV antibody, AAV antibody (IgG), Anti-PAH antibody, Vector DNA in blood, Vector DNA in body fluids, Serum Chemistry, Hematology

MeSH Terms

Conditions

Phenylketonurias

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesAmino Acid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic Diseases

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

April 13, 2020

First Posted

April 16, 2020

Study Start

August 19, 2020

Primary Completion

January 30, 2026

Study Completion (Estimated)

December 1, 2026

Last Updated

June 30, 2022

Record last verified: 2022-06

Locations