HyperphenylalaninemiaNCT01541397
Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy
A study testing Sapropterin in people with Hyperphenylalaninemia and Phenylketonuria, run by The University of Texas Health Science Center, Houston at 1 site in United States.
Trial summary
Prospective study to compare the bone mineral density in adults with HPA on KUVAN™ therapy to those not on therapy. The investigators hypothesize that after one year of KUVAN™ therapy, there will be an improvement in their bone mineral density. Read more about this study
- Who is it for?
- Ages 18 to 50 yearsHealthy volunteers can take part
- Conditions the study is for
- Hyperphenylalaninemia, Phenylketonuria
- What is being tested?
- Sapropterin
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 6 participants
- Where
- 1 siteUnited States
- Study dates
- Jun 2011to Aug 2012
- Phase
- Interventional
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
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 to 50 years
- All sexes
- Healthy volunteers accepted
- Adult
Who may be able to join
- Diagnosis of hyperphenylalaninemia at birth
- Age between 18 and 50 years
- Participated in study HSC-MS-110-0262
Who cannot join
- Peri-menopausal and menopausal women will be excluded because this is a time of increased bone loss related to hormonal mediated factors.
- Patients taking bisphosphonates because it alters bone density. Therefore, bone mineral density would reflect the biphosphonate intervention rather than their true status.
- Pregnant women due to the hazard of radiation exposure during a DXA scan. In addition women who have been pregnant or who have breastfed within one year of study enrollment will be excluded because these are periods of rapid bone loss which would not reflect the entity under study but would serve to confound the data.
Trial locations and contacts
1 site in 1 country.
United States1 site
The University of Texas Health Science Center at Houston
Houston, Texas, 77030
About this study
Prospective study to compare the bone mineral density in adults with HPA on KUVAN™ therapy to those not on therapy. The investigators hypothesize that after one year of KUVAN™ therapy, there will be an improvement in their bone mineral density.
Read the detailed description
Hyperphenylalaninemia (HPA) is a rare metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH) (NIH, October 16-18, 2000). Elevated plasma levels of phenylalanine (phe) cause mental retardation, microcephaly, delayed speech, seizures, eczema, and behavior abnormalities. 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 metabolic 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. On December 13, 2007, KUVAN™ (sapropterin dihydrochloride) was approved by the FDA for the indication of reducing blood phe levels in patients with HPA due to BH4 responsive PKU, in conjunction with a phe restricted diet (BioMarin Pharmaceutical Inc., Investigator's Brochure March 25, 2008). Studies were performed to determine a definition of response to KUVAN™. In a phase 2 clinical trial in 2007, Burton, et. al. defined a Kuvan™ responder as having a 30% or greater improvement in blood phenylalanine levels compared to baseline after 8 days of drug therapy.
Kuvan™ has been shown to improve phenylalanine tolerance in some individuals with HPA. This drug enables these individuals to consume more protein from natural sources. However, there have been no research studies assessing the effects of KUVAN™ along with liberalization of the diet on bone mineral density.
The investigators propose a prospective study to compare the bone mineral density in adults with HPA on KUVAN™ therapy to those not on therapy. The investigators hypothesize that after one year of KUVAN™ therapy, there will be an improvement in their bone mineral density.
- Conditions
- Hyperphenylalaninemia, Phenylketonuria
- Being tested
- Sapropterin
- Keywords
- Hyperphenylalaninemia, Phenylketonuria, Adults, Bone Mineral Density
- Medical subject headings
- Phenylketonurias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
SapropterinDrug
Also called Kuvan
20 mg/kg, orally, daily, 1 year or patient chooses to discontinue therapy
| Study group | Role | What they receive |
|---|---|---|
| Non-Kuvan treated | No intervention | Adults with hyperphenylalaninemia who have are not receiving Kuvan therapy. |
| Kuvan treated | Experimental | Adults with hyperphenylalaninemia who are treated with Kuvan (sapropterin). Receives: Drug: Sapropterin |
What is being measured
The primary outcome is the main question the study is designed to answer.
Bone Mineral Density
A DXA scan will be conducted one year after Kuvan therapy is initiated.
Measured: 1 year after initiation of Kuvan therapy
Secondary outcomes (3)
Plasma Amino Acid Profile
Evaluation of levels of plasma amino acids.
Measured: every three months up to 1 year
Diet Analysis
Subjects will provide a 3 day diet record for every plasma amino acid evaluation. Diets will be analyzed to determine phenylalanine, protein, calories, fat, vitamins and minerals.
Measured: every 3 months up to 1 year
Plasma Phenylalanine Levels
Plasma phenylalanine levels will be monitored to determine effectiveness of Kuvan therapy.
Measured: weekly for 6 weeks, then at least every three months up to 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Mar 2012 (estimated)
- Study startJun 2011
- Primary completionAug 2012
- Study completionAug 2012
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for HyperphenylalaninemiaStudies of the same condition, open and under way.
- More trials run by The University of Texas Health Science Center, HoustonThe sponsor's other registered studies.
- 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 6 participants (actual)
Sponsor and investigators
- 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
- NCT01541397
- Sponsor's protocol ID
- HSC-MS-11-0119
- Status last verified
- Jun 2015
- First submitted
- 11 Jul 2011
- Last updated
- 7 Jul 2015
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 Jul 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy
- ClinicalTrials.gov ID
- NCT01541397
- Acronym / sponsor ID
- HSC-MS-11-0119
- Conditions
- Hyperphenylalaninemia, Phenylketonuria
- Keywords
- Hyperphenylalaninemia, Phenylketonuria, Adults, Bone Mineral Density
- Study type
- Interventional
- Recruitment status
- Terminated
- Enrolment
- 6 participants (actual)
- Lead sponsor
- The University of Texas Health Science Center, HoustonUniversity, hospital or other
- Collaborators
- BioMarin Pharmaceutical
- Study start
- Jun 2011
- Primary completion
- Aug 2012 (actual)
- Study completion
- Aug 2012 (actual)
- First posted
- 1 Mar 2012 (estimated)
- Results
- Posted 7 Jul 2015
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Prospective study to compare the bone mineral density in adults with HPA on KUVAN™ therapy to those not on therapy. The investigators hypothesize that after one year of KUVAN™ therapy, there will be an improvement in their bone mineral density.
Detailed description
Hyperphenylalaninemia (HPA) is a rare metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH) (NIH, October 16-18, 2000). Elevated plasma levels of phenylalanine (phe) cause mental retardation, microcephaly, delayed speech, seizures, eczema, and behavior abnormalities. 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 metabolic 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. On December 13, 2007, KUVAN™ (sapropterin dihydrochloride) was approved by the FDA for the indication of reducing blood phe levels in patients with HPA due to BH4 responsive PKU, in conjunction with a phe restricted diet (BioMarin Pharmaceutical Inc., Investigator's Brochure March 25, 2008). Studies were performed to determine a definition of response to KUVAN™. In a phase 2 clinical trial in 2007, Burton, et. al. defined a Kuvan™ responder as having a 30% or greater improvement in blood phenylalanine levels compared to baseline after 8 days of drug therapy.
Kuvan™ has been shown to improve phenylalanine tolerance in some individuals with HPA. This drug enables these individuals to consume more protein from natural sources. However, there have been no research studies assessing the effects of KUVAN™ along with liberalization of the diet on bone mineral density.
The investigators propose a prospective study to compare the bone mineral density in adults with HPA on KUVAN™ therapy to those not on therapy. The investigators hypothesize that after one year of KUVAN™ therapy, there will be an improvement in their bone mineral density.
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Non-Kuvan treated | No intervention | –Adults with hyperphenylalaninemia who have are not receiving Kuvan therapy. |
| Kuvan treated | Experimental | Drug: SapropterinAdults with hyperphenylalaninemia who are treated with Kuvan (sapropterin). |
Who may qualify
- Ages
- 18 to 50 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult
Key inclusion criteria (3 listed)
- Diagnosis of hyperphenylalaninemia at birth
- Age between 18 and 50 years
- Participated in study HSC-MS-110-0262
Key exclusion criteria (3 listed)
- Peri-menopausal and menopausal women will be excluded because this is a time of increased bone loss related to hormonal mediated factors.
- Patients taking bisphosphonates because it alters bone density. Therefore, bone mineral density would reflect the biphosphonate intervention rather than their true status.
- Pregnant women due to the hazard of radiation exposure during a DXA scan. In addition women who have been pregnant or who have breastfed within one year of study enrollment will be excluded because these are periods of rapid bone loss which would not reflect the entity under study but would serve to confound the data.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| SapropterinAlso: Kuvan20 mg/kg, orally, daily, 1 year or patient chooses to discontinue therapy | Drug | Kuvan treated |
Primary outcome
Bone Mineral Density
Time frame: 1 year after initiation of Kuvan therapy
A DXA scan will be conducted one year after Kuvan therapy is initiated.
3 secondary outcomes
Plasma Amino Acid Profile
Time frame: every three months up to 1 year
Diet Analysis
Time frame: every 3 months up to 1 year
Plasma Phenylalanine Levels
Time frame: weekly for 6 weeks, then at least every three months up to 1 year
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Jul 2015.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
Related trials for Hyperphenylalaninemia
Not yet recruiting
Market Research of a Slow Release Protein Substitute for the Dietary Management of PKU
Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn
Recruiting
The Impact of Frequency of Home Phenylalanine Measurements on Metabolic Control in a Population of Patients With Classic Phenylketonuria
Phenylketonuria (PKU)
RecruitingObservational study
PheCheck™ Validation Study
Phenylketonuria (PKU) and Hyperphenylalaninemia
Active, not recruitingObservational study
Early Check: Expanded Screening in Newborns
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Immune Modulation During Palynziq® Treatment in Adults (IMPALA)
Phenylketonuria
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?
A study testing Sapropterin in people with Hyperphenylalaninemia and Phenylketonuria, 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 3 inclusion and 3 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: stopped early, as of the sponsor's last update on 7 Jul 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?
Yes. Results are posted in the registry (first posted 7 Jul 2015). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
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.
What does the primary outcome measure?
Bone Mineral Density (time frame: 1 year after initiation of Kuvan therapy). It is what the study was designed to measure, not a finding.
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 7 Jul 2015.