Alström Syndrome — Research Summary
Printed from RareWays (rareways.com.au) on 24 September 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Generation of an induced pluripotent stem cell line from an Alström syndrome patient with biallelic ALMS1 pathogenic variants.
Secula Samira et al. — Stem cell research (1 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42035521/
- 2.
Prevalence and Clinical Relevance of Alström Syndrome Protein 1 Gene Variant and Feline Hypertrophic Cardiomyopathy in Sphynx Cats in Thailand.
Sussadee Metita et al. — Animals : an open access journal from MDPI (12 June 2026)
https://pubmed.ncbi.nlm.nih.gov/42353426/
- 3.
Prevalence and Clinical Relevance of Alström Syndrome Protein 1 Gene Variant and Feline Hypertrophic Cardiomyopathy in Sphynx Cats in Thailand
(1 June 2026)
https://europepmc.org/search?query=Prevalence%20and%20Clinical%20Relevance%20of%20Alstr%C3%B6m%20Syndr
- 4.
Alström syndrome presenting with life-threatening variceal bleeding in an adolescent: the youngest reported case in Türkiye
Birce İzgi Akçay et al. — Gulhane Medical Journal (21 May 2026)
https://doi.org/10.4274/gulhane.galenos.2026.26086
- 5.
[Clinical and genetic analysis of a patient with Alström syndrome presenting with paroxysmal palpitations].
Liu Yanzhi et al. — Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (10 May 2026)
https://pubmed.ncbi.nlm.nih.gov/42087736/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Recruiting — Sanford Health
https://clinicaltrials.gov/study/NCT01793168
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Alström Syndrome
Alström syndrome is a rare inherited condition caused by changes in the ALMS1 gene. It affects many parts of the body, commonly causing progressive vision and hearing loss, obesity, insulin resistance and type 2 diabetes, and problems with the heart, liver and kidneys. There is no cure, so care involves regular monitoring by a team of specialists and treating each problem as it arises.
Most Recent Research
We report on the generation of the human iPSC line (ALMS1-STBG-1) from a patient with Alström syndrome with compound heterozygote pathogenic variants in ALMS1: c.[2822T>A];[4714_4715dup], p.[(Leu941*)];[(Ser1573Thrfs*25)]. The reprogramming of primary human dermal fibroblasts was performed using the non-integrative Sendai virus method and the OSKM transcription factor cocktail. The generated ALMS1-STBG-1 iPSC line can differentiate into the three embryonic germ layers, and is genetically stable. This iPSC line represents a valuable tool for understanding the pathophysiology associated with Alström syndrome variants.
Common Questions
What is Alström Syndrome?
Alström syndrome is a rare inherited condition caused by changes in the ALMS1 gene. It affects many parts of the body, commonly causing progressive vision and hearing loss, obesity, insulin resistance and type 2 diabetes, and problems with the heart, liver and kidneys. There is no cure, so care involves regular monitoring by a team of specialists and treating each problem as it arises.
How many clinical trials are available for Alström Syndrome?
RareWays currently indexes 5 clinical trials for Alström Syndrome, of which 3 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Alström Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
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This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.