Early Dietary Treated Patients With Phenylketonuria Can Achieve Normal Growth and Mental Development.

NCT04302194 | Unknown

• 1 other identifier: Phenylketonuria
• Study Type: observational
• Target: 50
• Locations: 0 countries
• Sites: N/A

Brief Summary

The study aim is to follow up body growth(body weight by kg, length by cm, head circumference, abdominal circumference, and body mass index ) and mental development of infants on phenylalanine restricted diet in comparison with normal matchable infants.

Conditions

Phenylketonurias

Outcome Measures

Primary Outcomes (5)

• Normal growth in early dietary treated patients with Phenylketonuria to assessed by body mass index in kg/m^2

  Normal growth in early dietary treated patients with Phenylketonuria to assessed by body mass index in kg/m\^2

  one year

• Normal growth in Early dietary treated patients with Phenylketonuria to assessed by head circumference in centimeters

  Normal growth in Early dietary treated patients with Phenylketonuria to assessed by head circumference in centimeters

  one year

• Normal growth in Early dietary treated patients with Phenylketonuria to assessed by abdominal circumference in centimeters

  Normal growth in Early dietary treated patients with Phenylketonuria to assessed by abdominal circumference in centimeters

  one year

• Mental development in early dietary treated patients with Phenylketonuria to assessed by using Emerging Pattern Of Behavior of infants

  Mental development in early dietary treated patients with Phenylketonuria to assessed by using Emerging Pattern Of Behavior of infants

  one year

• Comparison between early dietary treated patients with Phenylketonuria with normal matchable infants regarding normal growth and mental development

  Comparison between early dietary treated patients with Phenylketonuria with normal matchable infants regarding normal growth and mental development

  one year

Study Arms (2)

Patients with Phenylketonuria

Dietary Supplement: phenylalanine restricted diet

normal healthy children

Dietary Supplement: phenylalanine restricted diet

Interventions

phenylalanine restricted diet DIETARY_SUPPLEMENT

Infants with hyperphenylalaninemia on special formula and diet

Patients with Phenylketonuria; normal healthy children

Eligibility Criteria

• Age: 1 Month - 3 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Cases:Infants with hyperphenylalaninemia on special formula and diet Controls: normal healthy children match with cases in the same social class, age and sex

You may qualify if:

• Infants with hyperphenylalaninemia on special formula and diet
• Infants of both sexes
• Age since birth till three years
• Type of feeding : diet restriction of phenylalanine
• Controls: normal healthy children match with cases in the same social class, age and sex

You may not qualify if:

• Age greater than three years
• Patients diagnosed with PKU and not regular in feeding for special diet and formula.
• PKU patients not diagnosed since birth

Sponsors & Collaborators

• Assiut University: lead

Related Publications (13)

• Belanger-Quintana A, Martinez-Pardo M. Physical development in patients with phenylketonuria on dietary treatment: a retrospective study. Mol Genet Metab. 2011 Dec;104(4):480-4. doi: 10.1016/j.ymgme.2011.08.002. Epub 2011 Aug 10.

  PMID: 21878401 BACKGROUND

• Blau N. Genetics of Phenylketonuria: Then and Now. Hum Mutat. 2016 Jun;37(6):508-15. doi: 10.1002/humu.22980. Epub 2016 Mar 18.

  PMID: 26919687 BACKGROUND

• Brumm VL, Grant ML. The role of intelligence in phenylketonuria: a review of research and management. Mol Genet Metab. 2010;99 Suppl 1:S18-21. doi: 10.1016/j.ymgme.2009.10.015.

  PMID: 20123465 BACKGROUND

• Burgard P. Development of intelligence in early treated phenylketonuria. Eur J Pediatr. 2000 Oct;159 Suppl 2:S74-9. doi: 10.1007/pl00014388.

  PMID: 11043149 BACKGROUND

• Cleary M, Trefz F, Muntau AC, Feillet F, van Spronsen FJ, Burlina A, Belanger-Quintana A, Gizewska M, Gasteyger C, Bettiol E, Blau N, MacDonald A. Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes. Mol Genet Metab. 2013 Dec;110(4):418-23. doi: 10.1016/j.ymgme.2013.09.001. Epub 2013 Sep 9.

  PMID: 24090706 BACKGROUND

• Evans S, Daly A, MacDonald J, Pinto A, MacDonald A. Fifteen years of using a second stage protein substitute for weaning in phenylketonuria: a retrospective study. J Hum Nutr Diet. 2018 Jun;31(3):349-356. doi: 10.1111/jhn.12510. Epub 2017 Sep 21.

  PMID: 28940742 BACKGROUND

• Evans S, Daly A, MacDonald J, Preece MA, Santra S, Vijay S, Chakrapani A, MacDonald A. The micronutrient status of patients with phenylketonuria on dietary treatment: an ongoing challenge. Ann Nutr Metab. 2014;65(1):42-8. doi: 10.1159/000363391. Epub 2014 Sep 4.

  PMID: 25196394 BACKGROUND

• Jani R, Coakley K, Douglas T, Singh R. Protein intake and physical activity are associated with body composition in individuals with phenylalanine hydroxylase deficiency. Mol Genet Metab. 2017 Jun;121(2):104-110. doi: 10.1016/j.ymgme.2017.04.012. Epub 2017 Apr 28.

  PMID: 28465125 BACKGROUND

• Dokoupil K, Gokmen-Ozel H, Lammardo AM, Motzfeldt K, Robert M, Rocha JC, van Rijn M, Ahring K, Belanger-Quintana A, MacDonald A. Optimising growth in phenylketonuria: current state of the clinical evidence base. Clin Nutr. 2012 Feb;31(1):16-21. doi: 10.1016/j.clnu.2011.09.001. Epub 2011 Sep 29.

  PMID: 21959353 BACKGROUND

• MacDonald A, Gokmen-Ozel H, van Rijn M, Burgard P. The reality of dietary compliance in the management of phenylketonuria. J Inherit Metab Dis. 2010 Dec;33(6):665-70. doi: 10.1007/s10545-010-9073-y. Epub 2010 Apr 7.

  PMID: 20373144 BACKGROUND

• Meli C, Bianca S. Dietary control of phenylketonuria. Lancet. 2002 Dec 21-28;360(9350):2075-6. doi: 10.1016/S0140-6736(02)11958-1. No abstract available.

  PMID: 12504428 BACKGROUND

• Mitchell JJ, Trakadis YJ, Scriver CR. Phenylalanine hydroxylase deficiency. Genet Med. 2011 Aug;13(8):697-707. doi: 10.1097/GIM.0b013e3182141b48.

  PMID: 21555948 BACKGROUND

• Rocha JC, van Rijn M, van Dam E, Ahring K, Belanger-Quintana A, Dokoupil K, Gokmen Ozel H, Lammardo AM, Robert M, Heidenborg C, MacDonald A. Weight Management in Phenylketonuria: What Should Be Monitored. Ann Nutr Metab. 2016;68(1):60-5. doi: 10.1159/000442304. Epub 2015 Nov 25.

  PMID: 26598928 BACKGROUND

MeSH Terms

Conditions

Phenylketonurias

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Farouk Hassanein

  Assiut University

  STUDY DIRECTOR

Central Study Contacts

Monica Dobs

CONTACT

01220777433; monicaibrahim9111@gmail.com

Shaimaa Khalaf

CONTACT

01001400503

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal investigator

Study Record Dates

• First Submitted: March 7, 2020
• First Posted: March 10, 2020
• Study Start: May 1, 2020
• Primary Completion: May 1, 2021
• Study Completion: October 1, 2021
• Last Updated: March 23, 2020

Record last verified: 2020-03