Research

Updated: January 10, 2026

Note to readers: Due to confidentiality of research solutions, I intentionally have not updated this page since January 2025. Please know that our researchers are moving mountains, and clinical trials are around the corner as a treatment for SMA-PME then downstream Farber disease as well. I will update this page when the research is made public. Please stay tuned.

What’s happening in Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME) research and treatment around the globe?

Our charity, SMA-PME Research, has its eyes on research solutions that we lump into six areas:

  1. Genetic research, especially in Europe and the United States
  2. Enzyme Replacement Therapy (ERT) in the United States
  3. ERT combined with Blood Brain Barrier (BBB) research in Japan
  4. Hematopoietic Stem Cell Transplantation (HSCT) in the United States
  5. BBB work in Italy
  6. Homeopathic treatments
  1. Genetic Research
    • Genetic research focuses on correcting the mutation in the ASAH1 gene.
    • Most researchers agree that a genetic treatment, properly dosed, will be a one-and-done treatment for SMA-PME.  Other researchers believe more analysis is needed to ascertain whether a genetic treatment can be administered once or will be needed more than once.
  2. ERT
    • ERT research focuses on delivering a protein to the patient’s circulatory system that will correct the problematic accumulation of acid ceramidase described on this website under “SMA-PME Disease.” ERT is an especially attractive area of research because a protein was developed circa 2020 by Aceragen Corporation.  This protein, at this writing, is ready for patient trials.  It has been tested on an SMA-PME mouse model.  Two companies and one laboratory are bidding on the opportunity to use this intellectual property.
  3. ERT with BBB
    • The Blood Brain Barrier (BBB) is the membrane in our bodies that separates the circulatory system from the nervous system. Epilepsy, a symptom of SMA-PME, originates in the brain.  However, ERT is injected into the circulatory system, typically through a port installed in the arm or chest.  Getting this larger protein across the BBB could be a challenge in treating SMA-PME.
    • SMA-PME Research interacted with JCR Pharmaceuticals (JCR) in Kobe, Japan.   JCR has vast experience in developing ERT solutions to other illnesses.  Moreover, JCR has a patented BBB transport mechanism called J-Cargo complex ® that will allow larger particles to cross into the brain. Other organizations in other countries are also experimenting with methods to pass medicine across the BBB.
  4. HSCT
    • HSCT reduced ceramide accumulation in all tissues investigated in two mouse models.
    • HSCT is breaking research.
  5. BBB in Italy
    • Our charity has caught wind of BBB work among some Italian researchers.
  6. Homeopathic treatments
    • SMA-PME Research has intentions to follow leads regarding the use of homeopathic remedies to treat this genetic disorder:
    • Nutrition
    • Acupuncture
    • Cannabidiol (CBD)