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CompletedNCT02353312RIDD-HFUpdated Jul 3, 2025Results posted

Rhode Island Diastolic Dysfunction - Heart Failure

An interventional study of Kuvan in Heart Failure and Cardiovascular Disease, sponsored by Providence VA Medical Center. Completed at 1 site in United States. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2025-07-03.

Sponsored by Providence VA Medical Center · Not applicable, Interventional, and Treatment

Phase
Not applicable
Study type
Interventional
Enrollment
28
Allocation
Randomized
Ages
18 Years and older
Sex
All
01

Study summary

To study the hypothesis that treating patients with underlying diastolic dysfunction with oral Kuvan® (BH4, also known as tetrahydrobiopterin) in addition to current best practices will improve metabolic and echocardiographic diastolic function parameters.

Read the detailed description

Congestive heart failure carries a significant epidemiologic and economic burden in today's healthcare system and is associated with increased morbidity and mortality in those affected.

There are approximately 5 million people in the United States with heart failure, and of those, nearly half have heart failure with preserved ejection fraction (HFpEF). HFpEF, also referred to as diastolic heart failure, is a clinical syndrome characterized by prolonged relaxation of the myocardium resulting in symptoms including dyspnea, edema, fatigue, and decreased exercise tolerance, which are clinically indistinguishable from the presentation of heart failure with reduced ejection fraction (HFrEF). The underlying mechanisms in diastolic dysfunction are not clearly elucidated, making targeted therapy a challenge. There are currently no FDA approved treatments for this syndrome, and multiple clinical trials have demonstrated that standard treatments for systolic heart failure are ineffective in treating diastolic dysfunction. One of the proposed underlying mechanisms of diastolic dysfunction is via the reduction of nitric oxide (NO), an endothelium-derived vasodilator that regulates blood pressure and regional blood flow. In 2010, Silberman et al. examined the effect of cardiac oxidation on nitric oxide and found that depletion of tetrahydrobiopterin (BH4), an essential cofactor in the production of nitric oxide, causes uncoupling of nitric oxide synthase, impaired relaxation of cardiac myocytes, and leads to subsequent diastolic dysfunction. The authors further went on to demonstrate that treatment with BH4 can improve diastolic dysfunction in a hypertensive mouse model as well as in isolated cardiac myocytes and may play a role in the treatment of HFpEF.

To the investigators' knowledge, the role of BH4 in treating diastolic dysfunction in human subjects has not been studied.

02

Conditions studied

  • Heart Failure
  • Cardiovascular Disease

Keywords

  • Diastolic
  • Biopterin
  • Therapeutic Use
  • Drug Therapy
  • Quality of Life
03

Who can participate

Ages eligible
18 Years and older
Sexes eligible
All
Accepts healthy volunteers
No

Inclusion criteria

  1. Male and female U.S. Veteran patients over the age of eighteen, with echocardiographic findings of >= Grade 2 diastolic dysfunction [as per American Society of Echocardiography guidelines] and
  2. Diagnosis of hypertension, diabetes, or heart failure in medical records.
  3. Eligible subjects must be ambulatory (not dependent on any ambulatory assist devices including cane or walker).

Exclusion criteria

Exclusion Criteria:

  1. Any history of documented ejection fraction \<50%
  2. Significant COPD (defined as oxygen-dependent COPD)
  3. Acute coronary syndrome within the past three months defined by EKG changes and biomarkers of myocardial necrosis (ie. elevated troponin) in the setting of chest pain or an anginal equivalent)
  4. Presence of hypertrophic cardiomyopathy
  5. Presence of infiltrative/restrictive cardiomyopathy
  6. Echocardiographic evidence of moderate or severe aortic or mitral valve stenosis or regurgitation
  7. Previously diagnosed phenylketonuria
  8. End stage renal disease requiring hemodialysis
  9. Pre-existing seizure disorder
  10. Terminal illness (not including heart failure) with expected survival of one year or less
  11. Females who are pregnant or breastfeeding. All females of child bearing age will undergo pregnancy testing prior to randomization.
  12. Recent hospitalization within three months.
  13. Previous Bioprosthetic and/or mechanical aortic or mitral valves
04

Study design

Phase
Not applicable
Primary purpose
Treatment
Allocation
Randomized
Intervention model
Crossover assignment
Masking
None (open label)
Enrollment
28 participants (actual)

Study arms

  • Experimental
    Initial Intervention Arm

    Kuvan® supplementation in addition to standard care for heart failure for three months. At the end of three months, stop Kuvan®, patients will only receive Standard care for heart failure for another 3 months

    Drug: Kuvan

  • Active comparator
    Delayed Intervention Arm

    Standard care for heart failure for three months. At the end of three months, Starting Kuvan® supplementation in addition to Standard care for heart failure for another 3 months

    Drug: Kuvan

Interventions

  • DrugKuvan

    Kuvan® (sapropterin dihydrochloride) will be initiated at 10mg/kg/day with meals for one week. After telephone contact on day 7, assuming no adverse effects are noted, the patient will be instructed to increase their daily dose to 20mg/kg/day with meals for the remainder of the 3 months.

    Also known as: sapropterin dihydrochloride

05

What researchers measure

Primary outcomes

  1. Change From Baseline in Oxygen Consumption During Maximal Bike Exercise

    The change from baseline in oxygen consumption during maximal bike exercise. This was measured using cardiopulmonary exercise tress test (CPET), recorded in milliliters per kilogram per minute (mL/kg/min). Higher oxygen consumption scores indicate better aerobic capacity and cardiovascular function. An increase in oxygen consumption from baseline to post-intervention signifies an improvement in these areas. Conversely, a decrease would indicate a decline in aerobic capacity and cardiovascular health.

    Time frame: Baseline (period 0), 3 mos (period 1), 6 mos (period 2)

06

Results

Posted Jul 3, 2025
Limitations and caveats
Incomplete or missing data for only seven participants leading to small numbers of subjects analyzed.

Participant flow

Participant flow — Overall Study
MilestoneKuvan First, Then no KuvanNo Kuvan First, Then Kuvan
Started1612
Completed1310
Not completed32

Outcome measures

PrimaryChange From Baseline in Oxygen Consumption During Maximal Bike Exercise

The change from baseline in oxygen consumption during maximal bike exercise. This was measured using cardiopulmonary exercise tress test (CPET), recorded in milliliters per kilogram per minute (mL/kg/min). Higher oxygen consumption scores indicate better aerobic capacity and cardiovascular function. An increase in oxygen consumption from baseline to post-intervention signifies an improvement in these areas. Conversely, a decrease would indicate a decline in aerobic capacity and cardiovascular health.

Time frame:
Baseline (period 0), 3 mos (period 1), 6 mos (period 2)
Reported as:
Mean · mL/kg/min
Change From Baseline in Oxygen Consumption During Maximal Bike Exercise
mL/kg/minOn KuvanNot on Kuvan
Change From Baseline in Oxygen Consumption During Maximal Bike Exercise14.45 ± 5.0014.18 ± 3.69
Statistical analysis
  • On Kuvan vs Not on Kuvan · t-test, 2 sided · p = 0.823

Adverse events

Collected over 6 months. Non-serious events are listed at a 0% frequency threshold.

Adverse event summary by group
GroupDeathsSeriousOther
On Kuvan0/28 (0%)4/28 (14.3%)28/28 (100%)
Off Kuvan0/28 (0%)6/28 (21.4%)28/28 (100%)
Most frequent serious events
Most frequent serious events
EventOn KuvanOff Kuvan
HospitalizationsInvestigations2/283/28
ER visitInvestigations2/283/28
Most frequent other events
Most frequent other events
EventOn KuvanOff Kuvan
Peripheral abdominal edemaVascular disorders21/2816/28
OtherVascular disorders15/2817/28
RhinorrheaBlood and lymphatic system disorders14/287/28
DiarrheaGastrointestinal disorders12/288/28
weight gainGeneral disorders12/2812/28
JVDVascular disorders4/286/28
NauseaGastrointestinal disorders4/282/28
FeverInfections and infestations1/283/28
Pulmonary cracklesRespiratory, thoracic and mediastinal disorders1/281/28
EmesisGastrointestinal disorders0/280/28

Baseline characteristics

Age, Continuous
Age, Continuous(years)Kuvan First, Then no KuvanNo Kuvan First, Then KuvanTotal
Mean70.4 ± 9.7872.1 ± 5.8571.4 ± 8.23
Sex: Female, Male
Sex: Female, Male(Participants)Kuvan First, Then no KuvanNo Kuvan First, Then KuvanTotal
Female202
Male141226
Race (NIH/OMB)
Race (NIH/OMB)(Participants)Kuvan First, Then no KuvanNo Kuvan First, Then KuvanTotal
American Indian or Alaska Native000
Asian000
Native Hawaiian or Other Pacific Islander000
Black or African American202
White141226
More than one race000
Unknown or Not Reported000
07

Study locations

1 site
  • Providence VAMC
    Providence, Rhode Island 02908, United States
08

References and documents

Study documents

  • Protocol and statistical analysis plan · Sep 22, 2016
  • Informed consent form · Nov 9, 2016

Documents are hosted by the registry — open the source record to download them.

09

Registry details

Key details

Study ID
NCT02353312
Lead sponsor
Providence VA Medical Center
Collaborators
BioMarin Pharmaceutical, Lifespan
Responsible party
Wen-Chih Wu (Staff Cardiologist, Providence VA Medical Center) — Principal investigator
First posted
Feb 2, 2015
Start date
Mar 2015
Primary completion
Dec 2018
Completion
Dec 2018
Results posted
Jul 3, 2025
Last update
Jul 3, 2025

Study contacts

Wen-Chih Wu, MD, MPH
principal investigator · Providence VA Medical Center

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

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