Ignite Creation Date:
2024-05-05 @ 11:08 AM
Last Modification Date:
2024-10-26 @ 9:05 AM
Study NCT ID:
NCT00005909
Status:
RECRUITING
Last Update Posted:
2024-07-12
First Post:
2000-06-13
Brief Title:
Study of Alkaptonuria
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Clinical Biochemical and Molecular Investigations Into Alkaptonuria
Status:
RECRUITING
Status Verified Date:
2024-07-11
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
The purpose of this study is to gain a better understanding of alkaptonuria and collect medical data on patients who may later participate in new drug trials for this rare genetic disease In alkaptonuria a pigment called homogentisic acid collects in bone and connective tissue causing arthritis and eventually bone fractures and also causes discoloration in the ears and whites of the eyes Some patients also develop kidney stones and heart valve problems Alkaptonuria has not been studied for decades and scientists expect to gain comprehensive clinical information using current medical techniques
Patients with alkaptonuria who are at least two years of age may be eligible for this study Participants will be evaluated at NIH s Clinical Center for 3 to 5 days every 2 to 3 years They will have a medical history physical examination routine blood and urine tests Blood may also be collected to measure a type of collagen that indicates new bone formation and to analyze DNA for genetic studies 24-hour urine collections will be done to measure organic acids and homogentisic acid excretion assess overall kidney function and evaluate bone metabolism A total of 895 ml about 6 tablespoons of blood will be drawn for these studies in adults and 51 ml about 3 tablespoons in children
Patients will may also have bone X-rays kidney ultrasound brain and chest computerized tomography CT scans magnetic resonance imaging MRI scans of affected joints electrocardiograms echocardiogram lung function tests and a hearing test Photographs of the face and full body with underwear on will be taken
As medically indicated patients will also have consultations with dentistry and ophthalmology with physical therapy and rehabilitation medicine for arthritis management and with cardiology for heart valve evaluation When appropriate patients may also have dermatology pulmonology and neurology consultations
The information from this study will enable doctors to better advise patients with alkaptonuria about their disease and treatment options It will also prepare the way for clinical studies of a new drug that blocks production of homogentisic acid
Patients with alkaptonuria who are at least two years of age may be eligible for this study Participants will be evaluated at NIH s Clinical Center for 3 to 5 days every 2 to 3 years They will have a medical history physical examination routine blood and urine tests Blood may also be collected to measure a type of collagen that indicates new bone formation and to analyze DNA for genetic studies 24-hour urine collections will be done to measure organic acids and homogentisic acid excretion assess overall kidney function and evaluate bone metabolism A total of 895 ml about 6 tablespoons of blood will be drawn for these studies in adults and 51 ml about 3 tablespoons in children
Patients will may also have bone X-rays kidney ultrasound brain and chest computerized tomography CT scans magnetic resonance imaging MRI scans of affected joints electrocardiograms echocardiogram lung function tests and a hearing test Photographs of the face and full body with underwear on will be taken
As medically indicated patients will also have consultations with dentistry and ophthalmology with physical therapy and rehabilitation medicine for arthritis management and with cardiology for heart valve evaluation When appropriate patients may also have dermatology pulmonology and neurology consultations
The information from this study will enable doctors to better advise patients with alkaptonuria about their disease and treatment options It will also prepare the way for clinical studies of a new drug that blocks production of homogentisic acid
Detailed Description:
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 prostate 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 300 alkaptonuria patients particularly adults every 2-3 years during 3-5 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 work to identify suitable clinical outcome measures that may be useful for future trials The present protocol does not include treatment with nitisinone Instead we will examine patients measure baseline excretion of homogentisic acid on 24-hour urine and characterize the signs and symptoms of alkaptonuria at different ages
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 00-HG-0141 | None | None | None |