Novel findings of a new common type of CMT2 that might be the 1st step to a treatment: SORD gene deficiency, the most common autosomal-recessive type of CMT

by | Jun 7, 2020 | 7 comments

Dr. Stephan Züchner and colleagues at the University of Miami (Drs. Andrea Cortese, Grace Zhai, Andriana Rebelo), along with the Inherited Neuropathies Consortium (INC) – a group of CMT  academic experts led by Dr. Michael Shy at the University of Iowa – has discovered a new type of Charcot-Marie-Tooth (CMT): a mutation in the SORD gene that may may affect 60,000 patients worldwide and appears to be the most common autosomal-recessive form.  HNF is a member of the INC and Dr. Zuchner is a collaborator with HNF’s Therapeutic Research in Accelerated  Discovery (TRIAD) Program.

SORD, sorbitol dehydrogenase, is a protein coding gene. CMT patients affected with this mutation show elevated levels of sorbitol sugar in tissue and blood causing axonal peripheral motor neuropathy. Fortunately, there is a class of drugs called aldose reductase inhibitors that have been used to reduce sorbitol levels in diabetic neuropathy.

As shown in the scientific study, these drugs can normalize sorbitol levels in patient cells and prevent symptoms in a fruit fly model of the disease.

The hope is that clinical trials can get underway relatively fast to bring this potential therapy, the first for CMT, to patients who carry the SORD mutation.

HNF is excited about this ground-breaking discovery and will continue to support Dr.  Züchner’s research in accelerating this potential treatment.

In addition to these findings, HNF works closely with Dr. Züchner and The Genesis Project – a large scale genomic data aggregation platform – to collect and curate the Global Registry for Inherited Neuropathies (GRIN) patients and families genomic data. HNF has added the SORD gene to its natural history studies and encourages all patients with SORD and other types of CMT, even if unknown, to join GRIN.

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7 Comments

  1. TyKiah Wright

    I have CMT2 how can I be kept uptodate regarding this clinical trial ?

    Reply
    • Patsy Gearhart

      How do you find out with CMT if you have the Sorb deficiency?

      Reply
  2. Romilda Williams

    Thought I was type 1B however very little information what’s new W

    Reply
  3. Robbins

    I never see anything about CMT 2 Z anywhere. Does anyone know about it?
    Thanks

    Reply
    • ANITA RAMBIN

      I am writing to you in the hope of some direction for My 17 Year Old Grandson .

      We are in a continuing process of a neuromuscular workup on him to get a diagnosis.

      His symptoms include deficits lower extremities, bilateral leg weakness, spasticity,
      Achilles tendon contractures, abnormal gait, falls, toe walks and foot drop.


      Because of these physical difficulties, He can not always walk as fast as needed,
      has difficulty climbing stairs, participating in PE , Etc

      He is a typical 16 year old , he is embarrassed, he is frustrated with these physical changes .

      Dr. Manu Bhargava, Pediatrician, Pineville,LA
      Dr. Jeffrey Traina, Orthopedic Surgeon, Leesville,LA
      Shriners Hospital Shreveport,LA
      Emily Jewell NP
      Dr. Lalaina Schexnayder ,Pediatric Neurology in Baton Rouge,LA

      Dr. Duane Superneau, Geneticist in Baton Rouge,LA

      Our journey has seem to come to a halt with Multiple DNA Samples done at INVITAE
      with ‘’No Proven Result’’.

      Can you give us any suggestions

      We live in Pineville ,LA.
      His Insurance is Louisiana Healthcare Connections

      Thanks for Your help,

      Reply
      • Courtney

        We can help with Genetic testing visit cmtgenie.org.

        Reply

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