ORPHA:99945
Autosomal dominant Charcot-Marie-Tooth disease type 2L
Also known as: CMT2L
Publications
96
55th percentile
Trials
0
Interventional, condition-specific
Researchers
529
Distinct authors in sample
Gene link
HSPB8
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor . In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012096
- OMIM:608673
- UMLS:C1837552
Additional Mondo synonyms (3)
Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB8 · HSPB8 Charcot-Marie-Tooth disease type 2 · autosomal dominant Charcot-Marie-Tooth disease type 2L
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — HSPB8
- LiteraturePresent
96 matched papers (55 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 42 for broader category Charcot-Marie-Tooth disease
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (HSPB8).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
96
96 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
96 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
55 in the last 10 years · high confidence · 55th percentile (publications denominator)
Phrase hits: 96 · MeSH hits: 0
Who's working on it?
529
Distinct author names in 96 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Timmerman V12 papers · 2025
Peripheral Neuropathy Research Group, Department of Biomedical Sciences, University of Antwerp, Antwerpen, Belgium.
Papers in Europe PMC - 02Asselbergh B7 papers · 2025
VIB Center for Molecular Neurology, University of Antwerp, Antwerpen, Belgium.
Papers in Europe PMC - 03De Winter V7 papers · 2025
Peripheral Neuropathy Research Group, Department of Biomedical Sciences and Institute Born Bunge, University of Antwerp, Universiteitsplein 1, 2610, Antwerpen, Belgium.
Papers in Europe PMC - 04Tang BS7 papers · 2012
National Laboratory of Medical Genetics of China, Central South University, 410078 Changsha, Hunan, People's Republic of China. bstang7398@yahoo.com.cn
Papers in Europe PMC - 05Luo W6 papers · 2017
Department of Neurology, The Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou 310009, China.
Papers in Europe PMC - 06Shy ME6 papers · 2023Papers in Europe PMC
- 07Xia K6 papers · 2006Papers in Europe PMC
- 08Zhao GH6 papers · 2006Papers in Europe PMC
- 09Udd B5 papers · 2023
Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, FI-00290 Helsinki, Finland.
Papers in Europe PMC - 10Zhang FF5 papers · 2012
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 42 trials are registered for Charcot-Marie-Tooth disease, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
42 interventional trials matched Charcot-Marie-Tooth disease, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: Charcot-Marie-Tooth disease
42
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT07140614·RECRUITING·A First in Human Study to Assess the Safety, Tolerability, and Pharmacokinetics of EDK060 in Adults With CMT1A.
Conditions: Charcot-Marie-Tooth Disease, Type 1A·Matched via name phrase
- NCT07726043·RECRUITING·Clinical Trial Evaluating the Impact of an Intensive Rehabilitation Program Combined With Tendon Vibratory Stimulation on Functional Balance in Individuals With Charcot-Marie-Tooth Disease Type 1A
Conditions: Charcot-Marie-Tooth Disease Type 1A·Matched via name phrase
- NCT07226297·ENROLLING BY INVITATION·Personalized Antisense Oligonucleotide for A Single Participant With GARS1 Gene Mutation Associated With Charcot-Marie-Tooth Disease Type 2D (CMT2D)
Conditions: Charcot-Marie-Tooth Disease Type 2D·Matched via name phrase
- NCT07447557·RECRUITING·Study of Intrathecal ELP-02 for Charcot-Marie-Tooth Disease Type 4J (CMT4J)
Conditions: Charcot-Marie-Tooth Disease Type 4J·Matched via name phrase
- NCT07136844·RECRUITING·Gait Analysis Parameter and Upper Limb Evaluation in Adult Patients With Neurological or Metabolic Pathology
Conditions: Neuromuscular Diseases · Obesity (Disorder) · Myotonic Dystrophy 1 · Myasthenic Syndrome·Matched via name phrase
- NCT06881979·RECRUITING·High-Tech Rehabilitation Pathway for Chronic Adult Neuromuscular Diseases - Fit4MedRob-Chronic MND Project
Conditions: Amyotrophic Lateral Sclerosis · Chronic Inflammatory Demyelinating Neuropathy · Charcot-Marie-Tooth Disease·Matched via name phrase
- NCT06708468·RECRUITING·Personalized Training for People With Rare Neuromuscular Disorders
Conditions: Neuromuscular Diseases (NMD) · Charcot Marie Tooth Disease (CMT) · Facioscapulohumeral Muscular Dystrophy · Myotonic Dystrophy Type 1 (DM1)·Matched via name phrase
- NCT07478172·RECRUITING·Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Conditions: Neuromuscular Diseases (NMD) · Amyotrophic Lateral Sclerosis · Myasthenia Gravis · Lambert-eaton Myasthenic Syndrome·Matched via name phrase
- NCT07188415·RECRUITING·CMT Gait, Mobility, Balance - AOFAS Grant
Conditions: Charcot Marie Tooth Disease (CMT)·Matched via name phrase
- NCT07152197·RECRUITING·Effects of Resistance Exercises in Hereditary Sensory-Motor Neuropathy (Charcot-Marie-Tooth Disease)
Conditions: Polyneuropathy · Charcot Marie Tooth Disease (CMT)·Matched via name phrase
- NCT06328712·RECRUITING·Evaluate the Safety and Efficacy of EN001 in Patients With Charcot-Marie-Tooth Disease Type 1A(CMT1A) (Phase 1b: Open-label, Dose-escalation, Single-center; Phase 2a: Randomized, Double-blind, Placebo-controlled, Multicenter)
Conditions: Charcot-Marie-Tooth Disease Type 1A·Matched via name phrase
- NCT07049588·RECRUITING·Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease
Conditions: Charcot-Marie-Tooth Disease Type 1A·Matched via name phrase
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT05902351·RECRUITING·Natural History Study for Charcot Marie Tooth Disease
Conditions: Charcot-Marie-Tooth Disease · Charcot-Marie-Tooth · Charcot-Marie-Tooth Disease, Type IA · Charcot-Marie-Tooth Disease Type 2A·Matched via recall expansion
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Autosomal dominant Charcot-Marie-Tooth disease type 2L" OR "CMT2L" OR "Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB8" OR "HSPB8 Charcot-Marie-Tooth disease type 2"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant Charcot-Marie-Tooth disease type 2L" OR "CMT2L" OR "Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB8" OR "HSPB8 Charcot-Marie-Tooth disease type 2" OR "HSPB8" OR "Charcot-Marie-Tooth disease type 2"
Recall-expansion terms: HSPB8, Charcot-Marie-Tooth disease type 2
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Charcot-Marie-Tooth disease"
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T06:44:14.172Z