PhenylketonuriaNCT04348708
Long-Term Follow Up Study of Subjects Previously Administered HMI 102
An observational study of Phenylketonuria and PAH Deficiency, run by Homology Medicines, Inc at 2 sites in United States.
Trial summary
An Open-Label, Long-Term Follow Up Study of Safety and Efficacy in PKU Subjects with PAH Deficiency Previously Administered HMI 102 Read more about this study
- Who is it for?
- Ages 18 to 55 years
- Conditions the study is for
- Phenylketonuria, PAH Deficiency
- What is being tested?
- HMI-102
- Type of treatment
- Injection or infusion
- How many people
- 21 participants
- Where
- 2 sitesUnited States
- Study dates
- 19 Aug 2020to 1 Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 55 years
- All sexes
- No healthy volunteers
- Adult
Study population: Subjects with PAH Deficiency who were previously administered HMI-102
Who may be able to join
- 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.
Who cannot join
- Participation in the study is not in the subject's best interest, in the opinion of the Investigator.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States2 sites
Boston Children's Hospital
Boston, Massachusetts, 02115
Icahn School of Medicine at Mount Sinai
New York, New York, 10029
About this study
Official title: An Open-Label, Long-Term Follow Up Study of Safety and Efficacy in PKU Subjects With PAH Deficiency Previously Administered HMI 102
An Open-Label, Long-Term Follow Up Study of Safety and Efficacy in PKU Subjects with PAH Deficiency Previously Administered HMI 102
Read the 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
- Conditions
- Phenylketonuria, PAH Deficiency
- Being tested
- HMI-102
- Keywords
- PKU, Phenylketonuria, PAH Deficiency, Phenylalanine, Adeno Associated Virus, AAVHSC15
- Medical subject headings
- Phenylketonurias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
HMI-102Genetic
HMI-102 is an AAVHSC15 vector containing a functional copy of the human PAH gene
| Study group | Role | What they receive |
|---|---|---|
| Dose Level Cohort 1 | Dose Level 1 of HMI-102 delivered intravenously one time Receives: Genetic: HMI-102 | |
| Dose Level Cohort 2 | Dose Level 2 of HMI-102 delivered intravenously one time Receives: Genetic: HMI-102 | |
| Dose Level Cohort 3 | Dose Level 3 of HMI-102 delivered intravenously one time Receives: Genetic: HMI-102 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: Baseline to year 5
Secondary outcomes (4)
Plasma Phe Concentration
Plasma phenylalanine (Phe) concentration at each time point during the study
Measured: Baseline to year 5
Phe-restricted diet
Incidence of subjects with a Phe-restricted diet
Measured: Baseline to year 5
Phenylketonuria Quality of Life Questionnaire (PKU-QOL
Quality of life (QOL), as assessed using the Phenylketonuria-QOL (PKU-QOL) questionnaire
Measured: Baseline to year 5
Protein intake
Protein intake relative to Phe concentration at each time point during the study
Measured: Baseline to year 5
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Apr 2020
- Study start19 Aug 2020
- Primary completion30 Jan 2026 (estimated)
- Study completion1 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for PhenylketonuriaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 21 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Homology Medicines, Inc
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04348708
- Sponsor's protocol ID
- HMI-102-102
- Status last verified
- Jun 2022
- First submitted
- 13 Apr 2020
- Last updated
- 30 Jun 2022
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 30 Jun 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open-Label, Long-Term Follow Up Study of Safety and Efficacy in PKU Subjects With PAH Deficiency Previously Administered HMI 102
- ClinicalTrials.gov ID
- NCT04348708
- Acronym / sponsor ID
- HMI-102-102
- Conditions
- Phenylketonuria, PAH Deficiency
- Keywords
- PKU, Phenylketonuria, PAH Deficiency, Phenylalanine, Adeno Associated Virus, AAVHSC15
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 21 participants (estimated)
- Lead sponsor
- Homology Medicines, IncIndustry (pharma, biotech, devices)
- Study start
- 19 Aug 2020 (actual)
- Primary completion
- 30 Jan 2026 (estimated)
- Study completion
- 1 Dec 2026 (estimated)
- First posted
- 16 Apr 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Dose Level Cohort 1 | – | Genetic: HMI-102Dose Level 1 of HMI-102 delivered intravenously one time |
| Dose Level Cohort 2 | – | Genetic: HMI-102Dose Level 2 of HMI-102 delivered intravenously one time |
| Dose Level Cohort 3 | – | Genetic: HMI-102Dose Level 3 of HMI-102 delivered intravenously one time |
Who may qualify
- Ages
- 18 to 55 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult
- Study population
- Subjects with PAH Deficiency who were previously administered HMI-102
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (1 listed)
- Participation in the study is not in the subject's best interest, in the opinion of the Investigator.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| HMI-102HMI-102 is an AAVHSC15 vector containing a functional copy of the human PAH gene | Genetic | Dose Level Cohort 1, Dose Level Cohort 2, Dose Level Cohort 3 |
Primary outcome
Incidence and severity of adverse events of special interest (AESIs) and serious adverse events (SAEs) related to HMI 102
Time frame: Baseline to year 5
Subjects with at least one AESI or SAE
4 secondary outcomes
Plasma Phe Concentration
Time frame: Baseline to year 5
Phe-restricted diet
Time frame: Baseline to year 5
Phenylketonuria Quality of Life Questionnaire (PKU-QOL
Time frame: Baseline to year 5
Protein intake
Time frame: Baseline to year 5
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Jun 2022.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
The record lists no contact. Use the official record to reach the sponsor.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Phenylketonuria and PAH Deficiency, run by Homology Medicines, Inc at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 30 Jun 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incidence and severity of adverse events of special interest (AESIs) and serious adverse events (SAEs) related to HMI 102 (time frame: Baseline to year 5). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Jun 2022.