ALLMedicine™ Alström Syndrome Center

Feb 7th, 2023 - We describe the unique case of a patient in whom two ciliopathies with autosomal recessive transmission were clinically and molecularly diagnosed: Nephronophthisis type1 (NPHP1) and Alström Syndrome (AS). NPHP1 is one of the main genetic causes of...

Jan 27th, 2023 - Alström syndrome (AS) is a rare genetic disease caused by ALMS1 mutations, characterized by short stature, and vision and hearing loss. Patients with AS develop the metabolic syndrome, long-term organ complications, and die prematurely. We explore...

Nov 13th, 2022 - Alström syndrome is a rare, multisystemic genetic disorder, and dilated cardiomyopathy occurs in approximately two-thirds of patients with this condition. Because of donor organ shortage and unfavorable prognosis of multiple organ dysfunction, hea...

Nov 11th, 2022 - Impaired cilial signalling in the melanocortin-4 receptor (MC4R) pathway might contribute to obesity in patients with Bardet-Biedl syndrome and Alström syndrome, rare genetic diseases associated with hyperphagia and early-onset severe obesity. We ...

Sep 27th, 2022 - Alström Syndrome (AS) is an autosomal recessive hereditary disease with the characteristics of multiorgan dysfunction. Due to the heterogeneity of clinical manifestations of AS, genetic testing is crucial for the diagnosis of AS. Herein, we used w...

Sep 10th, 2021 - ALMS and BBS syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus. There are to date no specific treatments available and limited information on the natural history of the...

Jul 20th, 2021 - This pivotal, phase 3 study is designed to confirm the efficacy and safety of setmelanotide, a potent melanocortin receptor type 4 (MC4R) agonist, for the treatment of obesity and hyperphagia in patients with Bardet Biedl syndrome (BBS) or Alström...

Nov 3rd, 2020 - This is a Phase 2, open-label, single-arm, multi-centre study evaluating the long term safety and tolerability of PBI-4050 in subjects with Alström Syndrome who have completed the end-of-treatment (EoT) visit in a preceding ProMetic-sponsored Alst...

Jun 21st, 2019 - The aim of the study is to characterize the clinical manifestations of ALMS within the ciliopathies to prevent complications and determine preventive and therapeutic targets. The investigators believe that the clinical consequences of mutations in...

Aug 29th, 2018 - This is a Phase 2, single-centre, single-arm, open-label study of the safety, tolerability, and effects on biomarkers of PBI-4050 in subjects with Alström syndrome. Approximately 18 subjects will be enrolled. The duration of study participation is...

Jun 21st, 2022 - The FDA approved a new indication for setmelanotide (Imcivree), a melanocortin-4 receptor (MC4R) agonist, for patients with Bardet-Biedl syndrome but rejected a new indication for Alström syndrome, Rhythm Pharmaceuticals announced. The endocrine-d...

Jun 17th, 2022 - Note that some links may require registration or subscription. The FDA issued emergency use authorizations for COVID-19 vaccines in the youngest kids: ages 6 months to 4 years for Pfizer's vaccine and 6 months to 5 years for Moderna's. The agency ...

Feb 27th, 2022 - Several medical organizations, including the Endocrine Society, are condemning the recent order by Texas Gov. Greg Abbott (R) directing the state's Department of Family and Protective Services to investigate instances of sex-change procedures in c...

Nov 21st, 2021 - The FDA accepted a priority review of a supplemental new drug application for setmelanotide (Imcivree), a melanocortin-4 receptor agonist, for the treatment of Bardet-Biedl syndrome and Alström syndrome, Rhythm Pharmaceuticals announced. The FDA a...

Sep 26th, 2021 - Eli Lilly is voluntarily recalling one lot of the glucagon emergency kit for low blood sugar with an expiration of April 2022 due to loss of potency, the FDA announced. The estimated cost to diagnose and treat women with polycystic ovary syndrome ...