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Clinical Biomarkers in Alpha-mannosidosis

NCT02141503 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 11

Last updated 2019-12-03

No results posted yet for this study

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.
* Participants will have a skin biopsy at the first visit only. A small area of the participant s skin will be numbed. A small circle of skin will be removed with a biopsy tool.

Conditions

  • Alpha-Mannosidosis

Sponsors & Collaborators

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

    lead NIH

Principal Investigators

  • Stephen G Kaler, M.D. · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Eligibility

Min Age
5 Years
Max Age
60 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2014-07-24
Primary Completion
2019-11-29
Completion
2019-11-29

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02141503 on ClinicalTrials.gov