The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) is sponsoring an ongoing research study entitled “Clinical Biomarkers in Alpha-Mannosidosis” at the NIH in Bethesda, Maryland. This study is seeking participants between 5 and 60 years of age who have been diagnosed with alpha-mannosidosis. Most especially, the study is seeking participants under 10 years old to study the early progress of the disease. Bone marrow transplantation does not disqualify persons from participation. Minors will need permission from their parents.
There is no treatment or cure for this rare lysosomal disease at present. The primary outcome measure of this research study is identification of cerebrospinal fluid biomarkers that could serve as candidate surrogate markers of treatment effect in a future clinical trial. Such information is required and is essential for conducting any future clinical trials of treatments for alpha-mannosidosis. The investigators have written that “if the pre-clinical components of this proposal prove promising, the prospect of a recombinant adeno-associated viral gene therapy trial involving a brain-directed (intrathecal) approach for alpha-mannosidosis would be possible within 3 years.”
Participants will have three outpatient study visits, about once a year for 2-3 days each time, at the NIH campus in Bethesda, Maryland. Participants will have a medical history obtained, a physical examination, laboratory tests, and samples collected. Travel and lodging are covered and there are no costs for participation or tests.
ClinicalTrials.gov provides extensive details, and questions can also be directed to Kristen Stevens at the NIH. Spread the word — and THANKS!