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NCT Number: NCT04348708

Long-Term Follow Up Study of Subjects 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

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Key information

Conditions

Phenylketonuria Amino Acid Metabolism, Inborn Errors Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases PAH Deficiency Phenylketonurias

Age range

18 year–55 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Boston Children's Hospital, Boston, Massachusetts, United States

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About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

HMI-102

Genetic

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

Primary outcomes

  1. 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

Secondary outcomes

  1. Plasma Phe Concentration

    Time frame: Baseline to year 5

    Plasma phenylalanine (Phe) concentration at each time point during the study

  2. Phe-restricted diet

    Time frame: Baseline to year 5

    Incidence of subjects with a Phe-restricted diet

  3. Phenylketonuria Quality of Life Questionnaire (PKU-QOL

    Time frame: Baseline to year 5

    Quality of life (QOL), as assessed using the Phenylketonuria-QOL (PKU-QOL) questionnaire

  4. Protein intake

    Time frame: Baseline to year 5

    Protein intake relative to Phe concentration at each time point during the study

Sponsors and collaborators

Lead sponsor

Homology Medicines, Inc

Industry

Registry information

Official study title

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

Important dates

Study start
2020
Primary completion
2026
Study completion
2026
First posted
Apr 16, 2020
Registry last updated
Jun 30, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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