If You Have Familial ALS, You Might Help Us Develop the First Human Cell Lines

Title: Generation and Characterization of Cell Lines for Amyotrophic Lateral Sclerosis
PI: Nicholas Maragakis, M.D.
Study #: NA_00033726

Johns Hopkins, in conjunction with the NIH, is carrying out a research project to understand more about the causes of familial ALS. The project involves growing skin cells, taken from familial ALS patients, and changing them into motor neurons to study in the laboratory. The project team is looking for people with confirmed familial ALS who are well enough to travel to Johns Hopkins for a skin biopsy. A skin biopsy is a simple procedure involving a small amount of skin being removed (a 2mm circle), usually from the forearm. Before the biopsy is taken, we will numb the area with an anesthetic (lidocaine) to minimize your discomfort.

The team is collecting samples from patients with familial ALS, i.e. people diagnosed with ALS that have also had a family member with the disease, such as a parent, sibling or other blood relative. Some people with familial ALS might have been diagnosed because they have had a positive genetic test for a SOD1 mutation.
Participants will be asked to travel to Johns Hopkins (all expenses paid) to have the skin biopsy performed. Patients who live in the state of Maryland may be able to arrange a home visit for the procedure. The entire visit will be about one hour, and you will not incur any out-of-pocket expenses.

For more information or to see if you are eligible to enroll in this study, please contact Betsy Mosmiller: 410-502-0495 or emosmil1@jhmi.edu