NCT01619722

Brief 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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
220

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Mar 2012

Longer than P75 for all trials

Geographic Reach
1 country

16 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

March 15, 2012

Completed
3 months until next milestone

First Submitted

Initial submission to the registry

June 12, 2012

Completed
2 days until next milestone

First Posted

Study publicly available on registry

June 14, 2012

Completed
7.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 15, 2020

Completed
5 months until next milestone

Study Completion

Last participant's last visit for all outcomes

July 6, 2020

Completed
Last Updated

April 9, 2021

Status Verified

April 1, 2021

Enrollment Period

7.9 years

First QC Date

June 12, 2012

Last Update Submit

April 8, 2021

Conditions

PKUHyperphenylalaninemia

Keywords

PKUOsteoporosisHMPLife qualityNeuropsychologicalNutritial evaluationPhenylketonuriaHyperphenylalaninemia

Outcome Measures

Primary Outcomes (1)

  • Evaluate a possible cognitive decline and incidence of neurological complications

    5 years

Secondary Outcomes (1)

  • Determine the prognostic factors of neurological complications

    5 years

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

All adult patients with PKU during a consultation in Hospital care centers.

You may qualify if:

  • Patient age ≥ 18 years
  • Phenylketonuria (PKU) or moderate persistent Hyperphenylalaninemia (HMP) diagnosed by neonatal screening
  • Reading and signing an informed consent
  • Membership of a social security system

You may not qualify if:

  • History of severe neurological definite diagnosis could interfere with the detection of neurological disorders associated with PKU

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (16)

CHRU-Hôpital Bretonneau - Service de Médecine Interne-Nutrition

Tours, Centre-Val de Loire, 37044, France

Location

CHU-ANGERS -Médecine Interne

Angers, 49933, France

Location

CHU_Service de Médecine Interne Nutrition A2-Hôpital du Haut Levèque

Bordeaux, 33000, France

Location

CHU du Morvan-Département de Pédiatrie et génétique médicale,

Brest, 29609, France

Location

Hôpital Femme-Mère-Enfant-Centre de Référence des Maladies Héréditaires du Métabolisme de Lyon

Bron, 69677, France

Location

CHU de Dijon--Hôpital des Enfants-Centre de Génétique

Dijon, 21079, France

Location

CHU de Grenoble-Hôpital MICHALLON-Unité de Neurologie Générale

Grenoble, 38043, France

Location

CHU de LILLE-Hôpital Claude HURIEZ-Service d'Endocrinologie

Lille, 59037, France

Location

APHM-Hôpital de la Conception -Médecine Interne

Marseille, 13005, France

Location

CHU-Service de Réanimation Pédiatrique / Néonatalogie, Consultation spécialisée en Maladies Héréditaires du Métabolisme

Nantes, 44000, France

Location

Hôpital Necker Enfants Malades, APHP-Maladies Métaboliques -Service de Pédiatrie

Paris, 75743, France

Location

CHU-RENNES-Hôpital Sud-Service de Génétique-Clinique

Rennes, 35203, France

Location

CHU de Rouen-Service de Pédiatrie

Rouen, 76031, France

Location

CHU de St Etienne-Hôpital Nord-Service de Pédiatrie

Saint-Etienne, 42055, France

Location

CHU-Toulouse-Hôpital PURPAN-Service de Médecine Interne

Toulouse, 31059, France

Location

University Hospital of NANCY

Vandœuvre-lès-Nancy, 54500, France

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Plasma an serum at the beginning of study and at 5 years

MeSH Terms

Conditions

PhenylketonuriasOsteoporosis

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesAmino Acid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic DiseasesBone Diseases, MetabolicBone DiseasesMusculoskeletal Diseases

Study Officials

  • François MAILLOT, Pr

    CHRU TOURS

    STUDY DIRECTOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

June 12, 2012

First Posted

June 14, 2012

Study Start

March 15, 2012

Primary Completion

February 15, 2020

Study Completion

July 6, 2020

Last Updated

April 9, 2021

Record last verified: 2021-04

Locations

FR(16)