Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy

NCT01541397 | Terminated Results

• 1 other identifier: HSC-MS-11-0119
• Study Type: interventional
• Target: 6
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Hyperphenylalaninemia; Phenylketonuria

Keywords

Hyperphenylalaninemia; Phenylketonuria; Adults; Bone Mineral Density

Outcome Measures

Primary Outcomes (1)

• Bone Mineral Density

  A DXA scan will be conducted one year after Kuvan therapy is initiated.

  1 year after initiation of Kuvan therapy

Secondary Outcomes (3)

• Plasma Amino Acid Profile

  every three months up to 1 year

• Diet Analysis

  every 3 months up to 1 year

• Plasma Phenylalanine Levels

  weekly for 6 weeks, then at least every three months up to 1 year

Study Arms (2)

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).

Drug: Sapropterin

Interventions

Sapropterin DRUG

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

Also known as: Kuvan

Kuvan treated

Eligibility Criteria

• Age: 18 Years - 50 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)

You may qualify if:

• Diagnosis of hyperphenylalaninemia at birth
• Age between 18 and 50 years
• Participated in study HSC-MS-110-0262

You may not qualify if:

• 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.

Sponsors & Collaborators

• The University of Texas Health Science Center, Houston: lead
• BioMarin Pharmaceutical: collaborator

Study Sites (1)

The University of Texas Health Science Center at Houston

Houston, Texas, 77030, United States

Location

MeSH Terms

Conditions

Phenylketonurias

Interventions

sapropterin

Condition Hierarchy (Ancestors)

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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Results Point of Contact

• Title: Heather Saavedra
• Organization: The University of Texas Health Science Center at Houston

Heather.Saavedra@uth.tmc.edu

713-500-7098

Study Officials

• Heather W Saavedra, MS

  The University of Texas Health Science Center, Houston

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: Yes

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Nutritionist; Department of Pediatrics Division of Genetics

Study Record Dates

• First Submitted: July 11, 2011
• First Posted: March 1, 2012
• Study Start: June 1, 2011
• Primary Completion: August 1, 2012
• Study Completion: August 1, 2012
• Last Updated: July 7, 2015
• Results First Posted: July 7, 2015

Record last verified: 2015-06

Locations

US (1)