Life With Phenylketonuria. Adult Neurological Outcome of PCU Screened Patients From 1971 to 2002.

Phenylketonurias Clinical Trial

— PCU  

Official title:

Becoming Adulthood of Phenylketonuric Patients Screened in the Neonatal Period: From 1971 to the Present Day.

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT04433728
• Other study ID #: 2019_28
• Secondary ID: 2020-A00437-32
• Status: Not yet recruiting
• Start date: September 2022
• Est. completion date: September 2024

Study information

• Verified date: March 2022
• Source: University Hospital, Lille
• Contact: Karine MENTION, MD,PhD
• Phone: 0320444149
• Email: karine.mention[@]chru-lille.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

You were detected during the neonatal period for phenylketonuria and you benefited from the diagnosis of an adapted dietetic care, and this for a variable duration according to the recommendations followed at that time.

The recommendations for the management of phenylketonuria have evolved considerably over time, lengthening the duration, rigor of the diet and target rates. However, few studies have been able to determinate the influence of metabolic balance and pediatric management on fate in adulthood. As you know, the current recommendations are more stringent and prolonged, without taking into account the pediatric data of today's adult patients.

The objective of this study, which is aimed at all adult patients screened and followed by Lille University Hospital, according to the same care methods, allowing a homogeneous monitoring of patients, is to assess the influence of pediatric care (duration of the diet, metabolic balance, compliance) on the future in adulthood. This retrospective and current analysis work could help refine the current recommendations.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 138
• Est. completion date: September 2024
• Est. primary completion date: September 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

Inclusion Criteria:

• Patients with classic or atypical phenylketonuria detected in the neonatal period since 1971 in the department of Nord (59) and Pas de Calais (62).

• Patients treated

• Able to receive information

• Patient beneficiary or affiliated to a social security

Exclusion Criteria:

• Patients not screened (born outside French territory) or before 1971.

• Untreated screened patients

• Patients screened for persistent benign hyperphenylalaninaemia not treated with a diet (Phenylalanine level <10 mg / dl or 600 µmol / l without diet to be confirmed)

• Associated confirmed neurological pathology other than a complication of phenylketonuria.

• Refusal to participate in the assessment of Intellectual Quotient in adulthood

• Patient screened, lost to follow-up, found, having moved to another region and not wishing to return to the CHU for follow-up.

• Inability to receive information and or express opposition

• Opposition to participation in the study

Related Conditions & MeSH terms

• Phenylketonurias

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Lille

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Adult intelligence quotient (IQ) score	Adult intelligence quotient (IQ) score assessed at the last setback in the two groups defined by the duration of the hypoprotidic diet during childhood	Baseline
Secondary	The IQ score in adulthood assessed defined by the target Phenylalanine level in one subgroup treated during 8 years.	The IQ score in adulthood assessed at the last time of decline according to the two subgroups treated during 8 years, defined by the target Phenylalanine level ((2-5 mg/dl versus 8-12 mg/dl)	Baseline, at the last time of decline (= 8 years of low-protein diet)
Secondary	The IQ score in adulthood assessed according to the length of expanding the Diet (Phe intake) during childhood for children treated during 10 years (target Phe level 2-5 mg/dl)	The IQ score in adulthood assessed according to length (and degree) of expanding the Diet (increasing Phe intake, during 6 months whatever the Phe levels or longer according the Phe levels) during childhood for children treated during 10 years (xith target Phe level 2-5 mg/dl)	Baseline,at the last time of decline (= 10 years of low-protein diet)
Secondary	The IQ score in adulthood assessed defined by the metabolic biological parameters in childhood	The IQ score in adulthood assessed at the last time of decline according to the metabolic parameters during childhood	Baseline
Secondary	The IQ score in adulthood assessed according to the first phenylalanine level in the target (< 5 mg/dl)	The IQ score in adulthood assessed according to the first phenylalanine level in the target (< 5 mg/dl) in the neonatal period	baseline