Bone Mineral Density in Adults With Hyperphenylalaninemia

This study has been completed.
Sponsor:
Collaborator:
BioMarin Pharmaceutical
Information provided by (Responsible Party):
Heather Saavedra, The University of Texas Health Science Center, Houston
ClinicalTrials.gov Identifier:
NCT01209819
First received: September 24, 2010
Last updated: June 11, 2015
Last verified: June 2015
  Purpose

Hyperphenylalaninemia (HPA) is a rare metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH). Elevated plasma levels of phenylalanine (phe) cause mental retardation, microcephaly, delayed speech, seizures, eczema, and behavior problems. Adequate control of the plasma levels of phe by a phe-restricted diet can prevent the developmental and behavioral problems.

The foundation of this diet is a phe-free medical product/formula made from free amino acids. Based on longitudinal studies, it has been reported that the most benefit is attained by individuals who maintain a phe-restricted diet throughout life. Despite the obvious benefits of the diet, it has been suggested that the dietary restrictions may be associated with poor bone health in these patients. However, data supporting this has been reported in studies with small sample sizes and/or inadequate sample populations that include children. There is a paucity of data on bone health in adults with HPA.

The investigators propose an observational study to describe the bone health status among adults with a diagnosis of HPA and to compare them to established normative age and gender-specific values among healthy individuals. The investigators hypothesize that adults with HPA will have lower bone density as measured by a dual x-ray absorptiometry (DXA) scan compared to the established normative values.


Condition
Phenylketonurias

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Bone Mineral Density in Adults With Hyperphenylalaninemia

Resource links provided by NLM:


Further study details as provided by The University of Texas Health Science Center, Houston:

Enrollment: 28
Study Start Date: September 2010
Study Completion Date: October 2012
Primary Completion Date: October 2012 (Final data collection date for primary outcome measure)
  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Adults with PKU or benign HPA followed at The University of Texas Health Science Center at Houston will be invited to participate in the study. In addition, adults with PKU or benign HPA in the State of Texas will be invited to participate.

Criteria

Inclusion Criteria:

  • Diagnosis of HPA at birth
  • Aged 18 or older

Exclusion Criteria:

  • Peri-menopausal women
  • Menopausal women
  • Patients taking bisphosphonates
  • Pregnant women
  • Women who have been pregnant within one year of study enrollment
  • Women who have breastfed within one year of study enrollment
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01209819

Locations
United States, Texas
University of Texas Health Science Center at Houston
Houston, Texas, United States, 77030
Sponsors and Collaborators
The University of Texas Health Science Center, Houston
BioMarin Pharmaceutical
Investigators
Principal Investigator: Heather W Saavedra, MS The University of Texas Health Science Center, Houston
  More Information

No publications provided

Responsible Party: Heather Saavedra, Clinical Instructor - Pediatrics, The University of Texas Health Science Center, Houston
ClinicalTrials.gov Identifier: NCT01209819     History of Changes
Other Study ID Numbers: HSC-MS-10-0262
Study First Received: September 24, 2010
Last Updated: June 11, 2015
Health Authority: United States: Institutional Review Board

Keywords provided by The University of Texas Health Science Center, Houston:
Bone Mineral Density
Adults

Additional relevant MeSH terms:
Phenylketonurias
Amino Acid Metabolism, Inborn Errors
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Central Nervous System Diseases
Genetic Diseases, Inborn
Metabolic Diseases
Metabolism, Inborn Errors
Nervous System Diseases

ClinicalTrials.gov processed this record on September 01, 2015