We are updating the design of this site. Learn more.
Show more
ClinicalTrials.gov
ClinicalTrials.gov Menu

Bone Mineral Density in Adults With Hyperphenylalaninemia

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01209819
First Posted: September 27, 2010
Last Update Posted: June 12, 2015
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Collaborator:
BioMarin Pharmaceutical
Information provided by (Responsible Party):
Heather Saavedra, The University of Texas Health Science Center, Houston
  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 Heather Saavedra, 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

Information from the National Library of Medicine

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, Learn About Clinical Studies.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
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
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): 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

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
First Submitted: September 24, 2010
First Posted: September 27, 2010
Last Update Posted: June 12, 2015
Last Verified: June 2015

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

Additional relevant MeSH terms:
Phenylketonurias
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
Metabolic Diseases