ORPHA:610573
CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
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.
Is anyone studying this?
1
1 paper have ever been indexed 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=183) is 38.
1 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
1 in the last 10 years · high confidence · 9.6th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (CLCN6).
GenCC classification: Strong.
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
Recruiting interventional trials
Trials testing a treatment 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 above — people publishing on this disease are often the practical next contact when no trial is listed.
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 below 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"
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" OR "CLCN6"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:619173 UMLS:C5543020
Query health: suspect — strategies attempted: phrase, recall-expansion; 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