Recombinant Adeno-associated Virus Administration for Patients With Menkes Syndrome

NCT05507996 | Terminated Early Phase 1

• 1 other identifier: HOPE-1
• Study Type: interventional
• Target: 1
• Locations: 1 country
• Sites: 1

Brief Summary

It is a single-center, open, single-arm, non-randomized investigator-initiated trial evaluating the efficacy and safety of recombinant adeno-associated virus administration for patients with Menkes syndrome.

Conditions

Menkes Syndrome

Keywords

gene therpy; adeno-associated virus

Outcome Measures

Primary Outcomes (2)

• Monitoring the disease course or vital signs to assess the efficacy of the investigational medical product

  Based on studies of the natural history of Menkes syndrome, which shows that patients have a life span of fewer than three years, this study will evaluate the endpoint of life of patients with the investigational medical product infusion. The endpoint of life is defined as death or the need for ventilatory support (device dependence of at least 16 hours per day for more than 14 days).

  Up to the end of life after infusion or 12 months after the age of 3 years

• Incidence of adverse events(AE) after the investigational medical product infusion

  The frequency, severity, and laboratory findings of all adverse events/serious adverse events are included. Description, time, classification, and outcome of AE events resulted from the investigational medical product, delivery method, or emergency measures will be recorded in the case report form.

  Up to 12 months after the investigational medical product infusion

Secondary Outcomes (4)

• Developmental behavior assessment

  At baseline and 3, 6, 9, 12 months after infusion

• Weight

  At baseline and 3, 6, 9, 12 months after infusion

• Height

  At baseline and 3, 6, 9, 12 months after infusion

• Head circumference

  At baseline and 3, 6, 9, 12 months after infusion

Study Arms (1)

A single-arm study of recombinant adeno-associated virus

EXPERIMENTAL

An open, single-arm study of recombinant adeno-associated virus

Drug: Recombinant adeno-associated virus administration

Interventions

Recombinant adeno-associated virus administration DRUG

The investigational medical product will be injected from 1E12 GC/kg to 1E14 GC/kg.

A single-arm study of recombinant adeno-associated virus

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• The definitive diagnosis of Menkes disease is determined by molecular genetic confirmation of ATP7A mutations.
• Disorder of copper metabolism with the serum copper \< 50 ug/dl (reference 70-180 ug/dl) and ceruloplasmin \< 20 mg/dl (reference 20-45 mg/dl) in the absence of copper supplement injection.
• Clinical onsets of developmental retardation, seizures, and hypotonia with delay in poor head control and inability to sit at the age of 2-3 months.
• willingness to complete the informed consent process and to comply with study procedures and visit schedule.
• willingness to agree with the demand of nasal or gastrostomy feeding for nutrition maintenance in the opinion of the investigator.

You may not qualify if:

• Inability to be accepted for delivering the Investigational medical product due to failure to recover from severe or acute diseases.
• Presence of specific anti-AAV antibodies.
• Active viral infection (includes HIV, COVID-19, or serology positive for hepatitis B or C).
• Allergy to the substance or excipients in the Investigational medical product solution.
• Previous or current participation in any other gene therapies.
• Severe abnormality of hepatic, renal, and cardiac function.

Sponsors & Collaborators

• Kunming Hope of Health Hospital: lead

Study Sites (1)

Kunming Hope of Health Hospital

Kunming, Yunnan, 650000, China

Location

MeSH Terms

Conditions

Menkes Kinky Hair Syndrome

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System; Metabolism, Inborn Errors; Metal Metabolism, Inborn Errors; Hair Diseases; Skin Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Li Li

  Kunming Hope of Health Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: early phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 15, 2022
• First Posted: August 19, 2022
• Study Start: August 18, 2022
• Primary Completion: November 23, 2022
• Study Completion: November 23, 2022
• Last Updated: November 30, 2022

Record last verified: 2022-11

Locations

CN (1)