# The Inherited Neuropathy Consortium (INC) RDCRC- Overall

> **NIH NIH U54** · UNIVERSITY OF IOWA · 2021 · $1,433,827

## Abstract

Abstract
The Inherited Neuropathy Consortium (INC) RDCRC is a network of clinical investigators dedicated to
developing the infrastructure necessary to evaluate therapies for patients with heritable peripheral
neuropathies, collectively known as Charcot-Marie-Tooth disease (CMT). Supplemental funding from the
Muscular Dystrophy Association (MDA) and Charcot Marie Tooth Association (CMTA), two of our five Patient
Advocacy Groups (PAGs), has allowed the INC to expand from 6 to 20 sites. The >90 genes that cause CMT
can be divided into three major groups - dominantly inherited demyelinating neuropathies (CMT1), dominantly
inherited axonal neuropathies (CMT2), and recessively inherited neuropathies (CMT4). These are the groups
of disorders we investigate. The INC has enrolled > 10,000 participants into our protocols including > 5,000
patients into our natural history projects. We have developed CMT specific clinical outcome assessments
(COA) used to measure disability in adults and children with CMT, including both functional and patient
reported outcomes (PRO). INC investigators have identified biomarkers including MRI imaging that correlate
with our COA in CMT1A, the most common form of CMT. INC investigators have just been awarded a U01
award to “Accelerate Clinical Trials in CMT (ACTCMT) for CMT1A. We have relationships with pharmaceutical
and academic partners to share clinical data for trial readiness. We have had a Critical Path Innovation
Meeting (CPIM) meeting with the FDA. However, we need to complete longitudinal and biomarker studies in
CMT1A and the other common forms of CMT to be truly clinical trial ready for common and rare forms of CMT.
The INC has also been actively involved in identifying novel genetic causes of CMT including 23 during the
past five years. We have utilized GWAS to identify SIPA1L2 as the first genetic modifier for CMT1A and shown
that this gene is a potential therapeutic target. We have initiated the CMT Variant Browser which promotes
international sharing of genetic information on CMT and developed GENESIS software to share exome data
internationally. We are now poised to expand these studies into phenotypic sharing and whole genome
analysis. The INC Website has also allowed us to directly interact with > 3600 participants who constitute the
INC Contact Registry who have helped us develop the CMT Health Index, a PRO measure of disease burden,
among other publications. We have developed the CMT-International Database (CMT-ID), a group of national
registries from around the world that use the same CMT Minimal Dataset that is used by the INC. We have
successfully trained 11 young investigators who have all obtained faculty positions in fields related to CMT. We
propose to extend and expand our efforts in the upcoming RDCRN cycle by (1) ensuring our COA and
Biomarkers are clinical trial ready, (2) Developing and utilizing an INC Pilot/Feasibility Core, (3) Continuing to
train the next generation of INC investigators, ...

## Key facts

- **NIH application ID:** 10254262
- **Project number:** 5U54NS065712-14
- **Recipient organization:** UNIVERSITY OF IOWA
- **Principal Investigator:** MICHAEL E. SHY
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $1,433,827
- **Award type:** 5
- **Project period:** 2009-09-30 → 2024-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10254262

## Citation

> US National Institutes of Health, RePORTER application 10254262, The Inherited Neuropathy Consortium (INC) RDCRC- Overall (5U54NS065712-14). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10254262. Licensed CC0.

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