Menkes SyndromeEarly Phase 1NCT05507996
Recombinant Adeno-associated Virus Administration for Patients With Menkes Syndrome
A Early Phase 1 study testing Recombinant adeno-associated virus administration in people with Menkes Syndrome, run by Kunming Hope of Health Hospital at 1 site in China.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Menkes Syndrome
- What is being tested?
- Recombinant adeno-associated virus administration
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1 participants
- Where
- 1 siteChina
- Study dates
- 18 Aug 2022to 23 Nov 2022
- Phase
- Early Phase 1
- Are there results?
- None posted in the registry
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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: An Investigator-initiated Trial Evaluating the Efficacy and Safety of Recombinant Adeno-associated Virus Administration in Patients With Menkes Syndrome
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.
Read the detailed description
Who can participate? Patients with Menkes syndrome were diagnosed by combining clinical and genetic diagnoses.
How to conduct this study? In this study, the constructed recombinant adeno-associated virus preparation will be delivered to patients with Menkes syndrome. After administration, close follow-up will be conducted for at least three months, followed by regular follow-up until at least the 12th month. The efficacy and safety of treatment will be observed and evaluated. After the completion of the study, participants will decide whether to participate in the long-term follow-up program for five years.
What are the possible benefits and risks of participating? Benefits: This study may prolong the life span and improve the prognosis of Menkes syndrome subjects. The information obtained from this study will help determine what treatment may be safe and effective for other subjects with similar conditions.
Risks: Subjects may have adverse reactions to the treatment. These adverse reactions may include abnormal liver injury, fever, thrombocytopenia, thrombotic microangiopathy, and possibly others.
Where is the study run? Kunming Hope of Health Hospital.
- Conditions
- Menkes Syndrome
- Being tested
- Recombinant adeno-associated virus administration
- Keywords
- gene therpy, adeno-associated virus
- Medical subject headings
- Menkes Kinky Hair Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Recombinant adeno-associated virus administrationDrug
The investigational medical product will be injected from 1E12 GC/kg to 1E14 GC/kg.
| Study group | Role | What they receive |
|---|---|---|
| A single-arm study of recombinant adeno-associated virus | Experimental | An open, single-arm study of recombinant adeno-associated virus Receives: Drug: Recombinant adeno-associated virus administration |
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: 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.
Measured: Up to 12 months after the investigational medical product infusion
Secondary outcomes (4)
Developmental behavior assessment
CHOP INTEND was developed to be used on children from 3 months to over four years, although it is not limited to this age range. It was developed by looking at babies with SMA Type 1 and infants with other similar conditions, such as Menkes syndrome. There are 16 parts, and the scale scores infants on how well they can perform certain movements or what the physiotherapist sees while watching the child. Each one is scored from 0 to 4, with 0 being no response/ability to perform the movement and 4 being 'complete response' (being able to perform the task). The total possible score is 64.
The Developmental Behavior Scale for Children aged 0-6 years (WS/T 580-2017) released by the Ministry of Health of China is used to monitor and evaluate the development improvement of patients in gross motor, fine motor, language, adaptive ability, and social behavior. The scale applies to children aged 0-6 years, with 8-10 test items in each group, totaling 261.
Measured: At baseline and 3, 6, 9, 12 months after infusion
Weight
Record weight of patients in kilograms
Measured: At baseline and 3, 6, 9, 12 months after infusion
Height
Record height of patients in meters
Measured: At baseline and 3, 6, 9, 12 months after infusion
Head circumference
Record head circumference of patients in centimeters
Measured: At baseline and 3, 6, 9, 12 months after infusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Aug 2022
- Study start18 Aug 2022
- Primary completion23 Nov 2022
- Study completion23 Nov 2022
Why it stopped: The PI decides to stop.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Menkes SyndromeStudies 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
- Interventional
- Phase
- Early Phase 1
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 1 participants (actual)
Sponsor and investigators
- Lead sponsor
- Kunming Hope of Health Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Li Li, Principal investigator, Kunming Hope of Health Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05507996
- Sponsor's protocol ID
- HOPE-1
- Status last verified
- Nov 2022
- First submitted
- 15 Aug 2022
- Last updated
- 30 Nov 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 30 Nov 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Investigator-initiated Trial Evaluating the Efficacy and Safety of Recombinant Adeno-associated Virus Administration in Patients With Menkes Syndrome
- ClinicalTrials.gov ID
- NCT05507996
- Acronym / sponsor ID
- HOPE-1
- Conditions
- Menkes Syndrome
- Keywords
- gene therpy, adeno-associated virus
- Phase
- Early Phase 1
- Study type
- Interventional
- Recruitment status
- TerminatedReason stopped: The PI decides to stop.
- Enrolment
- 1 participants (actual)
- Lead sponsor
- Kunming Hope of Health HospitalUniversity, hospital or other
- Study start
- 18 Aug 2022 (actual)
- Primary completion
- 23 Nov 2022 (actual)
- Study completion
- 23 Nov 2022 (actual)
- First posted
- 19 Aug 2022 (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.
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.
Detailed description
Who can participate? Patients with Menkes syndrome were diagnosed by combining clinical and genetic diagnoses.
How to conduct this study? In this study, the constructed recombinant adeno-associated virus preparation will be delivered to patients with Menkes syndrome. After administration, close follow-up will be conducted for at least three months, followed by regular follow-up until at least the 12th month. The efficacy and safety of treatment will be observed and evaluated. After the completion of the study, participants will decide whether to participate in the long-term follow-up program for five years.
What are the possible benefits and risks of participating? Benefits: This study may prolong the life span and improve the prognosis of Menkes syndrome subjects. The information obtained from this study will help determine what treatment may be safe and effective for other subjects with similar conditions.
Risks: Subjects may have adverse reactions to the treatment. These adverse reactions may include abnormal liver injury, fever, thrombocytopenia, thrombotic microangiopathy, and possibly others.
Where is the study run? Kunming Hope of Health Hospital.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| A single-arm study of recombinant adeno-associated virus | Experimental | Drug: Recombinant adeno-associated virus administrationAn open, single-arm study of recombinant adeno-associated virus |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (6 listed)
- 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.
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 |
|---|---|---|
| Recombinant adeno-associated virus administrationThe investigational medical product will be injected from 1E12 GC/kg to 1E14 GC/kg. | Drug | A single-arm study of recombinant adeno-associated virus |
Primary outcome
Monitoring the disease course or vital signs to assess the efficacy of the investigational medical product
Time frame: Up to the end of life after infusion or 12 months after the age of 3 years
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).
Incidence of adverse events(AE) after the investigational medical product infusion
Time frame: Up to 12 months 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.
4 secondary outcomes
Developmental behavior assessment
Time frame: At baseline and 3, 6, 9, 12 months after infusion
Weight
Time frame: At baseline and 3, 6, 9, 12 months after infusion
Height
Time frame: At baseline and 3, 6, 9, 12 months after infusion
Head circumference
Time frame: At baseline and 3, 6, 9, 12 months after infusion
Results and safety
The study was stopped early (reason given: The PI decides to stop.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Nov 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. This study is not recruiting at the moment.
Li Li principal investigator
Kunming Hope of Health Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Early Phase 1 study testing Recombinant adeno-associated virus administration in people with Menkes Syndrome, run by Kunming Hope of Health Hospital at 1 site in China.
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 5 inclusion and 6 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: stopped early, as of the sponsor's last update on 30 Nov 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. 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.
What does this phase mean?
Early Phase 1 (sometimes called Phase 0) studies give a very small amount of a treatment to a few people, mainly to see how the body handles it.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study was stopped early (reason given: The PI decides to stop.). Results are not available in the source record.
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?
Monitoring the disease course or vital signs to assess the efficacy of the investigational medical product (time frame: Up to the end of life after infusion or 12 months after the age of 3 years). The study lists 2 primary outcomes in all. 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 Nov 2022.