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

Study Overview
=================
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

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

Conditions
-----------------
Phenylketonuria, PAH Deficiency

Intervention / Treatment
-----------------
* Genetic: HMI-102


Participation Criteria
=================
Eligibility Criteria
-----------------
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.

Ages Eligible for Study
-----------------
Minimum Age: 18 Years
Maximum Age: 55 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Dose Level Cohort 1<br>Dose Level 1 of HMI-102 delivered intravenously one time | Genetic: HMI-102<br>* HMI-102 is an AAVHSC15 vector containing a functional copy of the human PAH gene<br>|
| Dose Level Cohort 2<br>Dose Level 2 of HMI-102 delivered intravenously one time | Genetic: HMI-102<br>* HMI-102 is an AAVHSC15 vector containing a functional copy of the human PAH gene<br>|
| Dose Level Cohort 3<br>Dose Level 3 of HMI-102 delivered intravenously one time | Genetic: HMI-102<br>* HMI-102 is an AAVHSC15 vector containing a functional copy of the human PAH gene<br>|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 Outcome Measures

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

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
PKU, Phenylketonuria, PAH Deficiency, Phenylalanine, Adeno Associated Virus, AAVHSC15