Study of Alkaptonuria
Anahtar kelimeler
Öz
Açıklama
Alkaptonuria is a rare autosomal recessive disorder in which homogentisic acid accumulates and destroys connective tissue and bone, creating a condition called ochronosis. Symptoms generally begin in the third or fourth decade and progress to incapacitating spondylosis, arthropathy, and fractures by the sixth to eighth decades. Cardiac valve deterioration and renal and prostrate calculi also occur. Diagnosis is made by measurement of gram quantities of urinary homogentisic acid, which turns black on alkali treatment or exposure to oxygen. In the body, homogentisic acid forms a characteristic blue color in the cartilage of the ear and brown color in the sclera of the eye. The gene for homogentisic acid oxidase was isolated in 1996, and scores of different mutations have been defined. Only symptomatic treatment is available. We propose to investigate up to 200 alkaptonuric patients, particularly adults, during 5-day admissions, to define the disorder using current medical techniques. We will use our expertise in this disease to advise the population in terms of prognosis and therapy. Mutation analysis with correlation of genotype and phenotype, will be performed as a secondary goal. Finally, we will use this protocol to recruit patients into protocol 05-HG-0076. "Long-term Clinical Trial of Nitisinone in Alkaptonuria." Nitisinone is a very promising drug which inhibits the formation of homogentisic acid. The present protocol does not include treatment with nitisinone. Instead, we will examine patients, measure baseline excretion of homogentisic acid on repeated 24-hour urines, and characterize the signs and symptoms of alkaptonuria at different ages.
Tarih
Son Doğrulandı: | 08/19/2020 |
İlk Gönderilen: | 06/12/2000 |
Tahmini Kayıt Gönderildi: | 06/12/2000 |
İlk Gönderilen: | 06/13/2000 |
Son Güncelleme Gönderildi: | 08/25/2020 |
Son Güncelleme Gönderildi: | 08/26/2020 |
Fiili Çalışma Başlangıç Tarihi: | 06/20/2000 |
Durum veya hastalık
Evre
Kol Grupları
Kol | Müdahale / tedavi |
---|---|
Alkaptonuria Patients with confirmed or suspected alkaptonuria |
Uygunluk kriterleri
Çalışmaya Uygun Yaşlar | 2 Years İçin 2 Years |
Çalışmaya Uygun Cinsiyetler | All |
Örnekleme yöntemi | Non-Probability Sample |
Sağlıklı Gönüllüleri Kabul Ediyor | Evet |
Kriterler | - INCLUSION CRITERIA: All patients entering this study will carry the diagnosis of alkaptonuria, although we will confirm this diagnosis during the admission. EXCLUSION CRITERIA: Patients will be excluded if they cannot travel to the NIH due to their medical condition, are less than two years old, or are in imminent danger of death due to, e.g., cardiac involvement. |
Sonuç
Birincil Sonuç Ölçütleri
1. To delineate the clinical and laboratory findings of alkaptonuria, using state-of-the-art medical terminology such as cardiac CT, MRI, and echocardiograms [ongoing]
İkincil Sonuç Ölçütleri
1. To understand the natural history and rates of progression to identify suitable outcome measures for future studies [ongoing]