Phenyalanine hydroxylase deficiency
Conditions
Interventions
Sponsors
Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Eligibility
Sex/Gender
All
Age
10 Years to 80 Years
Inclusion criteria
Inclusion criteria: 1. PKU patients aged = 10 years old (diagnosed with PAH deficiency and have received dietary treatment); 2. The subject and his guardian/client (< 18 years old) or the subject (= 18 years old) sign in writing Informed consent form.
Exclusion criteria
Exclusion criteria: 1. Patients diagnosed with mild HPA type (blood Phe concentration = 360µmol/L at the time of diagnosis); 2. Patients with BH4-reactive PKU and continuous BH4 drug therapy; 3. Patients who cannot provide a reliable medical history; 4. Those who have participated in other clinical drug trials related to PKU in the past 3 months; 5. The researcher determines that patients are not suitable to participate in this study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| blood phenylalanine;Wechsler Intelligence Scale for Children;Wechsler Intelligence Scale for Adults;The phenylketonuria – quality of life (PKU-QOL) questionnaire; | — |
Secondary
| Measure | Time frame |
|---|---|
| height;weight;BMI;Waist-hip ratio;Blood tandem mass spectrometry;Liver function;Prealbumin;Blood CBC;ferritin;25 Hydroxyvitamin D3;Bone mineral density;Dosing counting method;Average number of follow-up visits per year ;Daily special medical formula provides the amount of protein, natural protein intake;Assess treatment adherence; | — |
Countries
China
Contacts
Public ContactQiu Wenjuan
Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Outcome results
None listed