This study will assist in the design of clinical research trials to help test potential treatments
for Mucolipidosis Type IV. Natural history research provides a detailed understanding of how the disease exists and progresses in people with MLIV.
Before clinical trials are approved by the FDA, we must present a highly developed picture of the disease
progression at all stages and ages to the FDA, indicating to them that we understand Mucolipidosis Type
IV fully. This demonstrates that we understand how and when a treatment will be effective. For this
reason, your participation in research studies like this are crucial to the development of effective
JOIN US TO HELP PHYSICIANS GATHER CLINICAL PATIENT DATA FOR MUCOLIPIDOSIS TYPE IV. THIS
DATA IS ESSENTIAL IN ORDER TO BUILD MEANINGFUL TREATMENTS!
Children & adults of between 2 and 99 years of age with a confirmed diagnosis of Mucolipidosis Type IV
- Read and sign the consent form
- Provide past medical records to the Study Team
- Complete a questionnaire about you or your child’s development and symptoms related to
Mucolipidosis Type IV
- If you are able, you may also be asked to participate in annual neurological and
ophthalmological examination by a physician investigator during a visit to Massachusetts
General Hospital and Boston Children’s Hospital.
Our Study Team sees patients at Massachusetts General Hospital and Boston Children’s Hospital and has created a disease specific severity scale for Mucolipidosis Type IV. If you are interested in participating, please bring any copies of medical records, examination results, CDs of MRIs and other imaging with you to the site visits.
You can contact the Study Team by e-mail for details about the research:
Massachusetts General Hospital – Center for Rare Neurological Diseases Research
Clinical Research Coordinator: Anna Lynch firstname.lastname@example.org
Principal Investigator: Dr. Patricia Musolino, MD, PhD