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Biomarker and diagnostic research for juvenile or adult CACH syndrome has been reported in the published literature.
No clinical trials have been registered for juvenile or adult CACH syndrome.
201 publications have been identified in PubMed for juvenile or adult CACH syndrome. Kisho has analyzed 152 by research type. Research spans Epidemiology / Natural History (32%), Basic Science / Preclinical (18%), and Case Report / Case Series (16%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 48 | 32% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 2:37 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research |
27 |
18% |
Patient case studies | 25 | 16% |
Testing and diagnosis research | 20 | 13% |
Clinical study results | 16 | 11% |
Research summaries | 11 | 7% |
New treatment approaches | 5 | 3% |
Orefice NS (2026). [PMID: 41344134](https://pubmed.ncbi.nlm.nih.gov/41344134/). *J Neuroimmunol*. [Basic Science / Preclinical]
Kessler C (2026). [PMID: 40961460](https://pubmed.ncbi.nlm.nih.gov/40961460/). *Amyotroph Lateral Scler Frontotemporal Degener*. [Diagnostic / Biomarker]
Sartorelli J (2026). [PMID: 41483250](https://pubmed.ncbi.nlm.nih.gov/41483250/). *Neurol Sci*. [Epidemiology / Natural History]
Blant JC (2026). [PMID: 41719500](https://pubmed.ncbi.nlm.nih.gov/41719500/). *Neurol Neuroimmunol Neuroinflamm*. [Epidemiology / Natural History]
Wang H (2026). [PMID: 41501060](https://pubmed.ncbi.nlm.nih.gov/41501060/). *Nat Commun*. [Basic Science / Preclinical]
Gonzalez AD (2026). [PMID: 41930614](https://pubmed.ncbi.nlm.nih.gov/41930614/). *Alzheimers Dement*. [Epidemiology / Natural History]
Macaron G (2026). [PMID: 41925503](https://pubmed.ncbi.nlm.nih.gov/41925503/). *Continuum (Minneap Minn)*. [Review / Meta-Analysis]
Flanagan EP (2026). [PMID: 41925507](https://pubmed.ncbi.nlm.nih.gov/41925507/). *Continuum (Minneap Minn)*. [Review / Meta-Analysis]
Le A (2026). [PMID: 41518854](https://pubmed.ncbi.nlm.nih.gov/41518854/). *Pediatr Neurol*. [Epidemiology / Natural History]
Zhang X (2026). [PMID: 41297835](https://pubmed.ncbi.nlm.nih.gov/41297835/). *Brain Res*. [Basic Science / Preclinical]