ORPHA:610573
CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome
Publications
641
Trials
0
Interventional, condition-specific
Researchers
99
Distinct authors in sample
Gene link
CLCN6
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic neurodegenerative disease characterized by childhood-onset severe with regression, poor motor development, speech impairment and due to CLCN6 mutations. Most of the patients have vision abnormalities, respiratory system abnormalities (including chronic respiratory insufficiency that may lead to ventilator dependency and/or tracheostomy) and feeding difficulties (percutaneous endoscopic gastronomy). Skin abnormalities including hyperhidrosis can be present.
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:0030947
- OMIM:619173
- UMLS:C5543020
Additional Mondo synonyms (2)
CONRIBA · neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities
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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — CLCN6
- LiteraturePresent
641 matched papers (402 in last 10 years) Source
- Phenotype characterisedPresent
26 HPO annotations (e.g. Long philtrum; Hypertelorism; Hyperhidrosis) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (CLCN6).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
26
Associated phenotypes · MONDO:0030947
- Long philtrum
- Hypertelorism
- Hyperhidrosis
- Abnormality of temperature regulation
- Respiratory insufficiency
Showing 5 of 26 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-27
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
641
641 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
641 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
402 in the last 10 years · low confidence
Phrase hits: 1 · MeSH hits: 0
Who's working on it?
99
Distinct author names in 1 sampled paper — 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.
- 01Abi Warde MT1 paper · 2023
Service de Pédiatrie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Papers in Europe PMC - 02Akman C1 paper · 2023
Department of Neurology, Division of Child Neurology, Columbia University Irving Medical Center, New York, USA.
Papers in Europe PMC - 03Alkuraya FS1 paper · 2023
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Papers in Europe PMC - 04Armstrong R1 paper · 2023
East Anglian Medical Genetics Service, Clinical Genetics, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge, UK.
Papers in Europe PMC - 05Arpin S1 paper · 2023
Service de Génétique Clinique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.
Papers in Europe PMC - 06Bain JM1 paper · 2023
Department of Neurology, Division of Child Neurology, Columbia University Irving Medical Center, New York, USA.
Papers in Europe PMC - 07Banka S1 paper · 2023
Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Papers in Europe PMC - 08
- 09Beneteau C1 paper · 2023
Service de Génétique Médicale, CHU de Nantes, Nantes Université, Nantes, France.
Papers in Europe PMC - 10Beysen D1 paper · 2023
Department of Pediatric Neurology, University Hospital Antwerp/University of Antwerp, Edegem, Belgium.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 9 September 2026 · last trial check 9 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 24 · after dedupe 24 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 24 · dropped 0 · fetched 2026-07-27
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (24)
- ctis·2025-522227-99-00·Authorised·A randomized, placebo-controlled, double-blind Phase 3 study to evaluate the efficacy, safety and tolerability of votoplam in participants with Huntington’s Disease
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2024-518834-95-02·Authorised, ongoing·An open-label, non-randomized, extension study to further investigate the long-term efficacy, safety, and tolerability of Guanabenz in patients with early childhood onset vanishing white matter (VWM)
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2025-520794-39-00·Authorised, recruiting·SGLT2 INHIBITION FOR CARDIOVASCULAR ENDPOINT REDUCTION IN HYPERTENSION
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2024-517187-36-01·Authorised, recruiting·A Phase II/III Multicenter Randomized, Double-Blind, Placebo-Controlled, Two-Stage Adaptive Design, Platform Trial of Investigational Treatments for Primary Prevention of Disease Progression in Dominantly Inherited Alzheimer’s Disease
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2024-512536-29-00·Authorised, recruiting·A phase 2, randomized, double-blind, placebo-controlled parallel group study of VHB937 in Amyotrophic Lateral Sclerosis (ALS) over 40 weeks followed by an Open-label
Extension (ASTRALS)
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2024-518658-18-00·Expired·Phase II, Multicenter Study to Assess Safety and Efficacy
of Combination of Sargramostim with D-VCd Therapy
(Daratumumab, Cyclophosphamide, Bortezomib,
Dexamethasone) in Untreated Patients with Light
Chain Amyloidosis
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2024-515858-25-00·Cancelled·A PHASE 2, SINGLE-ARM STUDY OF THE BIOMARKER EFFECTS OF ALZ-801 IN SUBJECTS WITH EARLY ALZHEIMER’S DISEASE WHO ARE CARRIERS OF THE ε4 VARIANT OF THE APOLIPOPROTEIN E GENE (APOE4/4 or APOE3/4)
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2024-515058-26-00·Authorised, ongoing·Early rituximab treatment in children with idiopathic nephrotic syndrome Eng. ERICONS - Early RITUXIMAB in Childhood Onset Nephrotic Syndrome
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2024-519235-42-00·Authorised·Effects of GLP-1 analogue in multiple sclerosis
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2024-512676-36-00·Expired·LCH-IV International Collaborative Treatment Protocol for Children and Adolescents with Langerhans Cell Histiocytosis
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2024-518086-99-00·Cancelled·Young adults with early-onset obesity treated with semaglutide
-The RESETTLE study
- a randomized double blind placebo-controlled clinical trial
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2023-503320-89-00·Cancelled·A Study to Explore the Safety, Tolerability, Pharmacokinetic Profile, and Potential Efficacy of Guanabenz in Patients With Early-Childhood Onset Vanishing White Matter (VWM)
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2024-511176-32-00·Cancelled·A Phase 2a Study of TPN-101 in Patients with Aicardi-Goutières Syndrome (AGS)
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2024-516263-92-00·Expired·A Phase 3, Randomized, Open-Label, Multicenter Study to Evaluate the Safety (Compared to Iron Sucrose), Efficacy and Pharmacokinetics of Ferumoxytol for the Treatment of Iron Deficiency Anemia (IDA) in Pediatrics Subjects with Chronic Kidney Disease (CKD)
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2024-512283-65-00·Authorised, ongoing·Exploring the effect of a novel therapy on chronic intrathecal inflammation in patients with active progressive multiple sclerosis
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2024-515198-91-00·Expired·A Phase II/III Multicenter Randomized, Double-Blind, Placebo-Controlled Platform Trial of Potential Disease Modifying Therapies Utilizing Biomarker, Cognitive, and Clinical Endpoints in Dominantly Inherited Alzheimer’s Disease (DIAD)
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2024-513960-24-00·Authorised, ongoing·Effects of ozanimod on myelin dynamics and neurodegeneration in patients with relapsingremitting multiple sclerosis: correlation with disease activity, cognition, fatigue,depression and quality of life
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2023-510532-36-00·Authorised, ongoing·In vivo quantification of Hsp90 in the human brain in healthy aging and neurodegeneration using the novel PET radioligand [11C]HSP990
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2023-508637-14-00·Authorised, ongoing·Multicentric trial on the use of combined therapy of Thiamine and biotine in patients with Huntington´s disease.
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2023-505140-19-00·Authorised, recruiting·A Phase III, International, Multicenter, Randomised Open Label Study to Evaluate the Efficacy and Safety of Obinutuzumab Versus MMF in Patients With Childhood Onset Idiopathic Nephrotic Syndrome
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2023-506514-44-00·Authorised, ongoing·A PLACEBO CONTROLLED, RANDOMIZED DOUBLE-BLIND PARALLEL GROUP 12-MONTH TRIAL OF FASUDIL FOR THE TREATMENT OF EARLY ALZHEIMER’S DISEASE (FEAD)
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2023-503190-38-00·Expired·Metformin add-on clinical study in multiple sclerosis to evaluate brain remyelination and neurodegeneration: a phase IIb triple-blind placebo-controlled randomized clinical trial (MACSiMiSE-BRAIN)
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2022-501137-23-00·Cancelled·A Phase 2 Theranostic Trial Evaluating the Effects of Thiethylperazine in
Patients Diagnosed with an Early Stage of Alzheimer's disease
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2022-500197-34-01·Authorised, ongoing·A Phase II double-blind multi-center, placebo-controlled trial, to assess the efficacy and safety of alpelisib (BYL719) in pediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP)
Uncertain — At least one provider returned uncertain or parent-category.
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome — check Associations / patient organisations on that page.
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.
("CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome" OR "CONRIBA" OR "neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities") OR ("CLCN6" OR "CLCN6 syndrome" OR "CLCN6-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome" OR "CONRIBA" OR "neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
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
- Publication count (641) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T02:06:55.268Z