Last reviewed · How we verify
NCT01193088: INC-6602
Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT
trial in Charcot-Marie-Tooth Disease, Type Ia (Disorder) in 1,050 participants. Currently enrolling.
1 December 2026
Quick facts
| Lead sponsor | University of Iowa |
|---|---|
| Status | Recruiting now |
| Study type | OBSERVATIONAL |
| Enrollment | 1,050 |
| Start date | 1 May 2010 |
| Primary completion | 1 December 2026 |
| Estimated completion | 1 December 2026 |
| Sites | 22 locations across United States, Australia, Canada, Italy, United Kingdom |
Conditions studied
- Charcot-Marie-Tooth Disease, Type Ia (Disorder) — all drugs for Charcot-Marie-Tooth Disease, Type Ia (Disorder) →
- HMSN — all drugs for HMSN →
Sponsor
University of Iowa
Who can join
Eligibility, any sex, with Charcot-Marie-Tooth Disease, Type Ia (Disorder) or HMSN. Healthy volunteers can join.
What's being measured
Primary outcomes are the specific endpoints the trial is designed to prove or disprove.
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Charcot Marie Tooth disease type 1A (CMT1A) gene modifiers
Time frame: once
While the same genetic change - an extra copy of PMP22 - causes CMT1A by definition, it is unclear why some people have more severe symptoms and some have less severe. We are looking for genetic modifiers - changes in the DNA that may be causing the differences in symptoms. -
New genetic causes of CMT
Time frame: Once
At least 33% of people with CMT have an unknown or genetically un-found form of the condition. We are looking for additional genes that cause CMT when mutated.
Sponsor's own description
This project includes two projects. One is looking for new genes that cause Charcot Marie Tooth disease (CMT). The other is looking for genes that do not cause CMT, but may modify the symptoms a person has.
Publications & conference data
3 peer-reviewed publications reference this trial (live from Europe PMC):
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Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
Record CJ, Pipis M, Skorupinska M, Blake J, et al · · 2024 · cited 29× · PMID 38481354 · DOI 10.1093/brain/awae064 -
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ, Skorupinska M, Laura M, Rossor AM, et al · · 2023 · cited 24× · PMID 37284795 · DOI 10.1093/brain/awad187 -
Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13.
Bertini A, Reilly MM, Pisciotta C, Previtali SC, et al · · 2025 · cited 1× · PMID 39943887 · DOI 10.1111/ene.70084
Verify or expand the search:
- PubMed search for NCT01193088
- Europe PMC full search
- ASCO Meeting Library
- ESMO Meeting Library
- bioRxiv preprints
- medRxiv preprints
- Google Scholar
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Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT01193088 (US National Library of Medicine, public domain)
- Publications: Europe PMC API search by NCT ID, retrieved 10 June 2026
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by University of Iowa
- Last refreshed: 1 October 2025
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT01193088.
Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing