Status:
COMPLETED
Long-Term Study of Nitisinone to Treat Alkaptonuria
Lead Sponsor:
National Human Genome Research Institute (NHGRI)
Conditions:
Alkaptonuria
Eligibility:
All Genders
30-80 years
Phase:
PHASE2
Brief Summary
This 3-year study will examine the safety and effectiveness of long-term use of nitisinone (Orfadin) for treating joint problems in patients with alkaptonuria, an inherited disease in which a compound...
Detailed Description
Alkaptonuria is a rare metabolic disease in which homogentisic acid (HGA), an intermediary metabolite in tyrosine catabolism, accumulates due to deficiency of the enzyme homogentisic acid oxidase. Pat...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- Age 30-80 years, either gender
- Diagnosis of alkaptonuria based upon urinary HGA excretion greater than 0.4 g/24h
- At least one hip joint remaining
- Some evidence of hip involvement, e.g., pain or decreased range of motion
- Ability to travel to the NIH Clinical Research Center for admissions
- Ability to consent
- Availability of local medical follow-up
- EXCLUSION CRITERIA:
- Age less than 30 or greater than 80
- Non-alkaptonuria causes of ochronosis
- Bilateral hip joint replacement
- Keratopathy
- Contact lenses
- Uncontrolled glaucoma
- History of myocardial infarction
- History of emphysema or pulmonary insufficiency (Forced vital capacity less than 70%)
- Psychiatric illness or neurological disease that interferes with compliance or communication with health care personnel
- Current malignancy
- Open skin lesions
- Dietary habits or use of homeopathic therapies that interfere with tyrosine catabolism. The diet must be reasonably balanced, as determined by a dietician.
- Uncontrolled hypertension (blood pressure greater than 180 systolic or greater than 95 diastolic)
- History of extreme alcohol abuse or sever liver disease
- Liver greater than 3 cm below the right costal margin
- Electrocardiogram changes indicative of myocardial infarction, arrhythmia, tachycardia, bradycardia, left bundle branch block
- Chest radiographic abnormalities, including an infiltrate, mass, congestive heart failure, embolism, atelectasis
- Serum postassium less than 3. 0 mEq/L
- Serum creatinine greater than 2.0 mg/dL
- Serum glutamic-pyruvic transaminase (SGPT) greater than 41 U/L or Serum glutamic-oxaloacetic transaminase (SGOT) greater than 34 U/L
- Creatine kinase (CK) greater than 500 U/L
- Hemoglobin less than 10.0 g/dL
- Platelets less than 100 k/mm(3)
- White blood cells (WBCs) less than 3.0 k/microL
- Free thyroxine (T4) greater than 15 microg/dL
- T4 less than 4 microg/dL
- Erythrocyte sedimentation rate (ESR) greater than 100 mm/h
- Plasma tyrosine greater than 150 microM
Exclusion
Key Trial Info
Start Date :
January 1 2005
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
April 1 2009
Estimated Enrollment :
40 Patients enrolled
Trial Details
Trial ID
NCT00107783
Start Date
January 1 2005
End Date
April 1 2009
Last Update
August 26 2021
Active Locations (1)
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1
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892