Research

Our Studies

Before any treatment can be tested in a form of CMT, someone has to document how that form actually behaves over time: how fast it moves, what it damages first, and which measurements track it reliably. That work is called a natural history study, and for most CMT subtypes nobody has done it. These are the studies HNF runs to close that gap, one gene at a time.

Why studies are organized by gene

CMT is not one disease. More than 100 genes can cause it, and a treatment aimed at one gene will do nothing for another. That is why our studies are built around a specific genetic cause rather than around CMT in general. It also means the single most useful thing you can do is find out which gene is behind your CMT. If you do not know yet, CMT Genie helps you and your provider get tested.

Studies now open

GDAP1

Open, enrolling

The SPARK Study

CMT4A (biallelic GDAP1)

A prospective, genotype-defined natural history study for people with two-copy (recessive) GDAP1 mutations, the most severe form of GDAP1-related CMT. Runs through the GRIN Registry with at-home biospecimen collection and annual in-person assessment at the CMT Clinical Trial Readiness Summit.

Who it is for: People with genetically confirmed biallelic GDAP1 mutations causing CMT4A, all ages.

Read about The SPARK Study

GARS1, YARS1, AARS1, HARS1, WARS1, MARS1, KARS1, SARS1

Open, enrolling

The CHARGE Study

aaRS-linked CMT (CMT2D, CMTDIC, CMT2N, CMT2W, dHMN-9, CMT2U, CMTRIB and related)

A natural history study covering the whole aminoacyl-tRNA synthetase gene family in one coordinated effort. These eight genes are the largest single group linked to CMT and they break in the same place, so evidence gathered across all of them can support a treatment that helps all of them.

Who it is for: People with CMT caused by a change in any of the eight aaRS genes.

Read about The CHARGE Study

Not seeing your subtype?

More studies are in development. The fastest way to make one possible for your gene is to be counted: GRIN, HNF's patient registry, is where every study on this page starts. When enough people with the same genetic cause are registered and characterized, a study for that subtype stops being hypothetical.

You can also read about the wider programs these studies feed: the TRIAD model, the CMT Biobank, our disease models, and clinical trial readiness.

Take part

Every study here begins in the same place. Joining GRIN and completing your patient journey profile is what makes the rest possible, whatever your subtype.

Join GRIN, HNF's patient registry Browse CMT types and subtypes