Clinical Trial: Clinical Biomarkers in Alpha-mannosidosis
Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: Clinical Biomarkers in Alpha-Mannosidosis
Brief Summary:
Background:
- Alpha-mannosidosis is a rare inherited disorder. It causes problems in many organs and tissues of the body. It can occur in children and adults. Because there is no treatment for this disease, researchers want to find out more about it.
Objective:
- To learn more about Alpha-mannosidosis.
Eligibility:
- People ages 5-60 with Alpha-mannosidosis.
Design:
- Participants will be recruited from patient support organizations and medical genetics clinics.
- Participants will have 3 study visits, about once a year. A final evaluation will be made after 3 years.
- Participants will have a medical history and a physical exam.
- Blood samples and a urine sample will be collected.
- Cerebrospinal fluid will be collected. A small area of the lower back will be numbed with medicine. A thin needle will be inserted between the spine bones. About 2 tablespoons of spinal fluid will be removed.
- Brain magnetic resonance spectroscopy (MRS) scans will be done at each visit. MRS uses a strong magnetic field and radio waves to take pictures of chemicals in the brain with a scanner. The participant will lie on a table that can slide in and out of the cylinder. While in the scanner the participant will hear loud knocking noises. They will get earplugs or earmuffs to muffle the sound. Medicines might be used to keep the participant asleep during the MRS.
- Particip
