PhenylketonuriasNCT01209819
Bone Mineral Density in Adults With Hyperphenylalaninemia
An observational study of Phenylketonurias, run by The University of Texas Health Science Center, Houston at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Phenylketonurias
- How many people
- 28 participants
- Where
- 1 siteUnited States
- Study dates
- Sep 2010to Oct 2012
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
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.
Who may be able to join
- Diagnosis of HPA at birth
- Aged 18 or older
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
United States1 site
University of Texas Health Science Center at Houston
Houston, Texas, 77030
About this study
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
- Keywords
- Bone Mineral Density, Adults
- Medical subject headings
- Phenylketonurias
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Sep 2010 (estimated)
- Study startSep 2010
- Primary completionOct 2012
- Study completionOct 2012
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for PhenylketonuriasStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 28 participants (actual)
Sponsor and investigators
- Lead sponsor
- The University of Texas Health Science Center, Houston
- Sponsor type
- University, hospital or other
- Collaborators
- BioMarin Pharmaceutical
- Responsible party
- Principal investigator, Heather Saavedra, The University of Texas Health Science Center, Houston
- Investigators
- Heather W Saavedra, MS, Principal investigator, The University of Texas Health Science Center, Houston
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01209819
- Sponsor's protocol ID
- HSC-MS-10-0262
- Status last verified
- Jun 2015
- First submitted
- 24 Sep 2010
- Last updated
- 12 Jun 2015
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Jun 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Bone Mineral Density in Adults With Hyperphenylalaninemia
- ClinicalTrials.gov ID
- NCT01209819
- Acronym / sponsor ID
- HSC-MS-10-0262
- Conditions
- Phenylketonurias
- Keywords
- Bone Mineral Density, Adults
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 28 participants (actual)
- Lead sponsor
- The University of Texas Health Science Center, HoustonUniversity, hospital or other
- Collaborators
- BioMarin Pharmaceutical
- Study start
- Sep 2010
- Primary completion
- Oct 2012 (actual)
- Study completion
- Oct 2012 (actual)
- First posted
- 27 Sep 2010 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (2 listed)
- Diagnosis of HPA at birth
- Aged 18 or older
Key exclusion criteria (6 listed)
- Peri-menopausal women
- Menopausal women
- Patients taking bisphosphonates
- Pregnant women
- Women who have been pregnant within one year of study enrollment
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Jun 2015.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Heather W Saavedra, MS principal investigator
The University of Texas Health Science Center, Houston
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Phenylketonurias, run by The University of Texas Health Science Center, Houston at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 12 Jun 2015. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Jun 2015.