Types of Mito CMT

HNF is focused on the following mitochondrial diseases

MTRFR/C12orf65
GDAP1 (CMT4A or 2k)
MFN2 – CMT2A
CMT6

MTRFR/C12orf65

A rare axonal hereditary motor and sensory neuropathy which present with a series of diseases that cause blindness and cognitive impairment. C12or65 may result with CMT Neuropathy, Leigh’s Syndrome, Spastic Parapheligia and Ataxia.


HNF Research Initiatives:

GDAP1 (CMT4A or 2k)

Can be either a demyelination, axonal or intermediate sensorimotor neuropathy labeled as CMT4A. GDAP can also be an axonal peripheral sensorimotor polyneuropathy labeled as CMT2K.

HNF Research Initiatives:

MFN2 – CMT2A

Is axonal and caused by mutations in the MFN2 gene, which encodes Mitofusin 2, a transmembrane protein of the outer mitochondrial membrane.


HNF Research Initiatives:

CMT6

CMT6 refers to patients with dominant or recessive optic atrophy and motor sensory neuropathy.

HNF Research Initiatives:

Join GRIN!

Turning symptoms into science.

Without your participation, researchers won’t have the essential and necessary patient information to develop drugs, gene therapies, and clinical trials for Charcot-Marie-Tooth and other Inherited Neuropathies!

Genetic Testing – CMT Genie

Wish there was an easy guide for genetic testing?

Now there is with the CMT Genie!
HNF’s CMT Genie is designed to assist you and your health care provider determine what the best option is for you!

The link between CMT and Mito

CMT is linked to mitochondrial disorders but not all mitochondrial disorders are linked to CMT. In fact, CMT is not a mitochondrial disorder at all. So, how did these two get connected?

After learning of Jaxson “Jax” Flynt’s diagnosis, Lindsey, Jax’s Mom discovered there was no cure, no pharmaceutical options and no research started to lessen or cure this devastating disease. She knew she had to be a champion for her son. She met Dr. Steve Gray at UT Southwestern who introduced her to Allison Moore, CEO at Hereditary Neuropathy Foundation.

Allison and Lindsey quickly realized there were multiple types of CMT that are linked to mitochondrial diseases. With over 200 mitochondrial diseases, it is no surprise that these two disorders are linked. And, they are all inherited, progressive and drastically impact patients and their families quality of life.

 

The Focus: Optic atrophy

While a cure is our mission, it’s important to have a specific focus, and that is vision. The optic atrophy caused by MTRFR is our focus.

Optic atrophy is a condition that leads to a progressive loss of vision and is a clinical feature found among many inherited mitochondrial diseases and not just MTRFR deficiency.  In many cases, it is not known what initiates the condition, whether it be a primary problem with the optic nerve or from problems in vasculature (blood flow) of the eye.

Our approach in the MTRFR mouse model will be able to identify what specifically causes the optic atrophy, why vision is lost, and how to treat it.  We will use both a gene therapy and separately a small molecule drug to treat the clinical symptoms.  Success with gene therapy will generate a template for other inherited mitochondrial genetic disorders to follow.  Success with a small molecule opens up a significantly larger number of patients affected by mitochondrial associated optic atrophy who will benefit from our discoveries.

 

The Mission

Cure single-gene mitochondrial disorders

HNF is actively committed to increasing awareness and accurate diagnosis of Mito disorders that fall under inherited neuropathies such as MTRFR along with providing patients and families with critical information to improve quality of life. In accordance with the FDA’s patient-focused drug development guidance for enhancing the incorporation of the patient’s voice in medical product development and regulatory decision making, HNF is leading the way for single-gene mitochondrial research specifically with MTRFR. It is our goal and our hope to cure single-gene mitochondrial diseases.

Meet the Faces of Mitos

If you don’t know your CMT type, you can find out from the HNF through The CMT Genie Program.

www.cmtgenie.org