all subjects will receive open-label nitisinone

Alkaptonuria

Taken orally. Supplied as a 2mg tablet. The starting dose is 2 mg once daily.

Nitisinone

University of California San Diego

Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria

Homogentisic acid will be measured in the urine of patients taking nitisinone. The goal is to eliminate homogentisic acid in the body thereby eliminating the damage done to joints and organs.

The tyrosine levels will be monitored frequently to maintain safe levels while maximizing the decrease of homogentisic acid. The amino acid mixture employed will be Tyrex.

William Leo Nyhan, M.D., Ph.D.

Professor

University of California, San Diego

Subjects received nitisinone 2 mg orally, once daily.

Control

Nitisinone-treated

Total

Sex: Female, Male

Region of Enrollment

The total (internal + external) range of motion (ROM) of the worse hip.

Total Range of Motion (ROM) Worse Hip

Schober's test measures a patient's ability to flex his/her lower back. The examiner makes a mark at L5 (fifth lumbar vertebra) and places one finger 5 cm below and another finger 10 cm above this mark. The patient is asked to touch his/her toes. The examiner measures the increase in distance between the two fingers.

Schober's test

Functional reach assessment measures the difference between the length of a person's outstretched arm and their maximal reach forward, while maintaining balance.

Functional Reach Assessment

In timed get up and go, the patient is asked to stand up from a standard chair and walk a distance of 3 meters, turn around and walk back to the chair and sit down. The examiner measures the time it takes for the patient to perform this series of tasks.

Timed get up and go

The 6MWT measures the distance that a patient can quickly walk on a flat hard surface in a period of six minutes.

6 minute walk test

Change from baseline in the total (external + internal) hip range of motion (ROM) in the worse hip at 36 months.

Change in Total ROM Worse Hip.

Change from baseline of Schober's test at 36 months. Schober's test measures a patient's ability to flex his/her lower back. The examiner makes a mark at L5 (fifth lumbar vertebra) and places one finger 5 cm below and another finger 10 cm above this mark. The patient is asked to touch his/her toes. The examiner measures the increase in distance between the two fingers.

Change in Schober's Test

Change from baseline of functional reach assessment at 36 months. Functional reach assessment measures the difference between the length of a person's outstretched arm and their maximal reach forward, while maintaining balance.

Change in Functional Reach Assessment

Change from baseline of timed get up and go at 36 months. In timed get up and go, the patient is asked to stand up from a standard chair and walk a distance of 3 meters, turn around and walk back to the chair and sit down. The examiner measures the time it takes for the patient to perform this series of tasks.

Change in Timed Get up and go

Change from baseline of the 6MWT at 36 months. The 6MWT measures the distance that a patient can quickly walk on a flat hard surface in a period of six minutes.

alkaptonuria/tyrosine

Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria

Long-Term Study of Nitisinone to Treat Alkaptonuria

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