Status:

UNKNOWN

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

Lead Sponsor:

University Hospital, Lille

Conditions:

Phenylketonurias

Eligibility:

All Genders

18+ years

Brief 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 fol...

Eligibility Criteria

Inclusion

  • 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

  • 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

Key Trial Info

Start Date :

September 1 2022

Trial Type :

OBSERVATIONAL

Allocation :

ESTIMATED

End Date :

September 1 2024

Estimated Enrollment :

138 Patients enrolled

Trial Details

Trial ID

NCT04433728

Start Date

September 1 2022

End Date

September 1 2024

Last Update

March 17 2022

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