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Bone Mineral Density in Adults With Hyperphenylalaninemia

NCT01209819 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 28

Last updated 2015-06-12

No results posted yet for this study

Summary

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.

Conditions

  • Phenylketonurias

Sponsors & Collaborators

Principal Investigators

  • Heather W Saavedra, MS · The University of Texas Health Science Center, Houston

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2010-09-30
Primary Completion
2012-10-31
Completion
2012-10-31

Countries

  • United States

Study Locations

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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 NCT01209819 on ClinicalTrials.gov