MedTrace Logo

Study of a National Cohort of Adult Patients With Phenylketonuria

NCT01619722 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 220

Last updated 2021-04-09

No results posted yet for this study

Summary

Phenylketonuria (PKU) is a metabolic disease of genetic origin. This is a rare disease (incidence 1 / 16000 births) which is the subject of a systematic neonatal screening in France, because it is treatable by a diet low in phenylalanine. This plan is required upon confirmation of diagnosis and continued until the age of 8 years. The current trend is to continue the scheme at least until adolescence. Unlike other countries, in France there are no recommendations for a plan "for life". Knowledge about the natural history of PKU in adulthood, the effects of pediatric age, the frequency of complicated shapes, and prognostic factors are poorly documented. On the other hand, there is no consensus on the therapeutic management of this disease in adulthood and monitoring that could be directed towards the detection of neurological disorders and nutrition. Social integration and quality of life of adults PKU patients living in France have not been studied.

Conditions

  • PKU
  • Hyperphenylalaninemia

Sponsors & Collaborators

  • Institut National de la Santé Et de la Recherche Médicale, France

    collaborator OTHER_GOV

  • University Hospital, Tours

    lead OTHER

Principal Investigators

  • François MAILLOT, Pr · CHRU TOURS

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2012-03-15
Primary Completion
2020-02-15
Completion
2020-07-06

Countries

  • France

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01619722 on ClinicalTrials.gov