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Clinical Trial Details — Status: Terminated

Administrative data

NCT number NCT01541397
Other study ID # HSC-MS-11-0119
Secondary ID
Status Terminated
Phase N/A
First received July 11, 2011
Last updated June 11, 2015
Start date June 2011
Est. completion date August 2012

Study information

Verified date June 2015
Source The University of Texas Health Science Center, Houston
Contact n/a
Is FDA regulated No
Health authority United States: Institutional Review Board
Study type Interventional

Clinical 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.


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.


Recruitment information / eligibility

Status Terminated
Enrollment 6
Est. completion date August 2012
Est. primary completion date August 2012
Accepts healthy volunteers Accepts Healthy Volunteers
Gender Both
Age group 18 Years to 50 Years
Eligibility Inclusion Criteria:

- Diagnosis of hyperphenylalaninemia at birth

- Age between 18 and 50 years

- Participated in study HSC-MS-110-0262

Exclusion Criteria:

- 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.

Study Design

Allocation: Non-Randomized, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment


Related Conditions & MeSH terms


Intervention

Drug:
Sapropterin
20 mg/kg, orally, daily, 1 year or patient chooses to discontinue therapy

Locations

Country Name City State
United States The University of Texas Health Science Center at Houston Houston Texas

Sponsors (2)

Lead Sponsor Collaborator
The University of Texas Health Science Center, Houston BioMarin Pharmaceutical

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Primary Bone Mineral Density A DXA scan will be conducted one year after Kuvan therapy is initiated. 1 year after initiation of Kuvan therapy No
Secondary Plasma Amino Acid Profile Evaluation of levels of plasma amino acids. every three months up to 1 year No
Secondary 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. every 3 months up to 1 year No
Secondary Plasma Phenylalanine Levels Plasma phenylalanine levels will be monitored to determine effectiveness of Kuvan therapy. weekly for 6 weeks, then at least every three months up to 1 year No
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