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Note: This record shows only 22 elements of the WHO Trial Registration Data Set. To view changes that have been made to the source record, or for additional information about this trial, click on the URL below to go to the source record in the primary register.
Register: ClinicalTrials.gov
Last refreshed on: 12 December 2020
Main ID:  NCT04227080
Date of registration: 10/01/2020
Prospective Registration: Yes
Primary sponsor: Taipei Veterans General Hospital, Taiwan
Public title: BH4 Responsiveness in PAH Deficiency PKU Patients
Scientific title: To Evaluate BH4 Responsiveness in PAH Deficiency PKU Patients Who Failed to Achieve 30% Blood Phe Reduction Within 24-hour BH4 Loading Test by Extending the Period of BH4 Response Test: A Pilot Study in Taiwan
Date of first enrolment: June 2020
Target sample size: 40
Recruitment status: Not yet recruiting
URL:  https://clinicaltrials.gov/show/NCT04227080
Study type:  Interventional
Study design:  Allocation: Non-Randomized. Intervention model: Single Group Assignment. Primary purpose: Treatment. Masking: None (Open Label).  
Phase:  Phase 4
Countries of recruitment
Contacts
Key inclusion & exclusion criteria

Inclusion criteria

1. Subjects have a confirmed diagnosis of PAH deficiency PKU, defined as baseline blood
Phe levels of >360 umol/L

2. Subject and/or parent or guardian must be capable of understanding and providing
written informed consent

3. For PAH deficiency PKU newborns, they should be identified as non-BH4 responders by
24-hour BH4 loading test after birth

4. For PAH deficiency PKU older pediatric and adult patients, they should be identified
as non-BH4 responders by 24-hour BH4 loading test and currently use Phe-restricted
diet control alone

Exclusion criteria

1. Perceived to be unreliable or unavailable for study participation or, if under the age
of 18, had parents or legal guardians who the investigator perceived to be unreliable
or unavailable

2. Used any investigational agent other than Kuvan within 30 days of screening, or
required any investigational agent or investigational vaccine prior to completion of
all scheduled study assessments

3. Pregnant or breastfeeding, or considering pregnancy

4. Concurrent disease or condition that would interfere with study participation or
safety (eg, seizure disorder, asthma or other condition requiring oral or parenteral
corticosteroid administration, insulin-dependent diabetes, or organ transplantation
recipient)

5. Serious neuropsychiatric illness (eg, major depression) not currently under medical
management

6. Required concomitant treatment with any drug known to inhibit folate synthesis (eg,
methotrexate)

7. Clinical diagnosis of primary BH4 deficiency

8. Patients him/herself or his/her caregivers are unable or unwilling to sign informed
consent or to comply with the requirements of the study

9. Patient attend other clinical trials should not be included



Age minimum: N/A
Age maximum: N/A
Gender: All
Health Condition(s) or Problem(s) studied
PAH Deficiency
Pku Phenylketonuria
Intervention(s)
Drug: BH4
Primary Outcome(s)
Changes of blood Phe level from baseline [Time Frame: 7th, 14th, and 28th day]
Secondary Outcome(s)
Phe level decreases for >= 30% [Time Frame: 7th, 14th, and 28th day]
PAH gene mutation and Phe level [Time Frame: 7th, 14th, and 28th day]
Phe tolerance increase from baseline for >=50% [Time Frame: 7th, 14th, and 28th day]
Secondary ID(s)
Version 1.0, 2018/03/21
Source(s) of Monetary Support
Please refer to primary and secondary sponsors
Secondary Sponsor(s)
BioMarin Pharmaceutical
Ethics review
Results
Results available:
Date Posted:
Date Completed:
URL:
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