×
About 225 results

ALLMedicine™ Alström Syndrome Center

Research & Reviews  80 results

Successful Heart Transplant in Dilated Cardiomyopathy Associated With Alström Syndrome:...
https://doi.org/10.1016/j.transproceed.2022.09.028
Transplantation Proceedings; Park JM, Shin YR et. al.

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...

Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients wi...
https://doi.org/10.1016/S2213-8587(22)00277-7
The Lancet. Diabetes & Endocrinology; Haqq AM, Chung WK et. al.

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 ...

New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9511775
BMC Ophthalmology; Cheng WY, Ma MJ et. al.

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...

Alström syndrome: Two clinical cases with two novel pathogenic variants.
https://doi.org/10.1177/11206721221123782
European Journal of Ophthalmology; Herranz-Heras JC, Barceló A et. al.

Sep 17th, 2022 - To report two clinical cases of Alström syndrome (AS) with novel pathogenic variant of the ALMS1 gene not previously reported. Patient 1 was a 6-year-old female presenting with poor vision. Ophthalmic examination only showed a visual field (VF) wi...

Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, a...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9479229
Orphanet Journal of Rare Diseases; Dedeoglu S, Dede E et. al.

Sep 16th, 2022 - Alström syndrome (ALMS) is a rare autosomal recessive genetic disorder that is caused by homozygous or compound heterozygous mutation in the ALMS1 gene. Dilated cardiomyopathy (DCM) is one of the well-recognized features of the syndrome ranging fr...

see more →

Clinicaltrials.gov  5 results

COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study
https://clinicaltrials.gov/ct2/show/NCT04461444

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...

Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Patients With Moderate to Severe Obesity
https://clinicaltrials.gov/ct2/show/NCT03746522

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...

Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome
https://clinicaltrials.gov/ct2/show/NCT03184584

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...

Clinical Study of a Single Ciliopathy: Alström Syndrome
https://clinicaltrials.gov/ct2/show/NCT02890550

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...

Safety and Tolerability of PBI-4050 and Its Effects on the Biomarkers in Subjects With Alström Syndrome
https://clinicaltrials.gov/ct2/show/NCT02739217

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...

see more →

News  5 results

New Imcivree Indication; Top Pediatric Endo Hospitals; Contrast Dye & Tots' Thyroids
https://www.medpagetoday.com/endocrinology/generalendocrinology/99345

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...

Tots' COVID Vax Authorized; Patient Info Sent to Facebook; Birx on 'What Went Wrong'
https://www.medpagetoday.com/infectiousdisease/covid19/99299

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 ...

Pushback on Anti-Trans Policy; Imcivree's Longer Review; Good COVID & Diabetes News
https://www.medpagetoday.com/endocrinology/generalendocrinology/97379

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...

Imcivree Considered for Expanded Label; Semglee Hits Shelves; Buphenyl for T2D?
https://www.medpagetoday.com/endocrinology/generalendocrinology/95785

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...

$8B Price Tag for PCOS; Tymlos Label Update; Genetic Obesity Tx Seeks New Approvals
https://www.medpagetoday.com/endocrinology/generalendocrinology/94704

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 ...

see more →