A Phase 2 Open-Label Study to Assess the Pharmacodynamics, Pharmacokinetics, Safety and Tolerability of AKCEA-ANGPTL3-LRx (ISIS 703802) Administered Subcutaneously to Patients With Familial Chylomicronemia Syndrome (FCS)

This is a single center, open-label study to evaluate the efficacy of AKCEA-ANGPTL3-LRx for reduction of triglyceride (TG) levels in participants with FCS.

Start Date21 Dec 2017

Sponsor / Collaborator

Akcea Therapeutics, Inc.

[+1]

CTR20160712 / CompletedPhase 1

盐酸小檗碱片在中国健康受试者和2型糖尿病患者中单次、多次给药的安全耐受性和药代动力学的I期临床研究

[Translation] Phase I clinical study on the safety, tolerability and pharmacokinetics of berberine hydrochloride tablets after single and multiple administration in Chinese healthy subjects and patients with type 2 diabetes

主要目的：评价中国健康受试者单、多次口服盐酸小檗碱片的安全性及耐受性；评价中国健康受试者和2型糖尿病患者单、多次口服盐酸小檗碱片的药代动力学。次要目的：评价中国健康受试者和2型糖尿病患者多次口服盐酸小檗碱片的肠道菌群变化特征；评价中国2型糖尿病患者单、多次口服盐酸小檗碱片的安全耐受性及药效动力学。

[Translation]

Primary objective: To evaluate the safety and tolerability of berberine hydrochloride tablets after single and multiple oral administration in healthy Chinese subjects; to evaluate the pharmacokinetics of berberine hydrochloride tablets after single and multiple oral administration in healthy Chinese subjects and patients with type 2 diabetes. Secondary objective: To evaluate the characteristics of intestinal flora changes after multiple oral administration of berberine hydrochloride tablets in healthy Chinese subjects and patients with type 2 diabetes; to evaluate the safety, tolerability and pharmacodynamics of berberine hydrochloride tablets after single and multiple oral administration in patients with type 2 diabetes in China.

Start Date22 Mar 2017

Sponsor / Collaborator

Institute of Pharmaceutical Biotechnology, Chinese Academy of Medical Sciences

[+2]

NCT02658175 / CompletedPhase 3

ISIS 304801-CS7 The APPROACH Open Label Study Volanesorsen (ISIS 304801) An Open-Label Study of Volanesorsen Administered Subcutaneously to Patients With Familial Chylomicronemia Syndrome (FCS)

An open-label study of volanesorsen (ISIS 304801) administered subcutaneously to participants with FCS.

Start Date23 Dec 2015

Sponsor / Collaborator

Akcea Therapeutics, Inc.

[+1]

100 Clinical Results associated with Familial Hyperchylomicronemia Syndrome

100 Translational Medicine associated with Familial Hyperchylomicronemia Syndrome

0 Patents (Medical) associated with Familial Hyperchylomicronemia Syndrome

Literatures (Medical) associated with Familial Hyperchylomicronemia Syndrome

07 Feb 2023·Archives of Endocrinology and Metabolism

Screening program for familial hyperchylomicronemia syndrome detection: Experience of a university health system

Article

Author: Herzkovich, Nicole ; Siniawski, Daniel ; Kerschner, Eliana ; Barbagelata, Leandro ; Fleitas, Milagros ; Rossi, Emiliano ; Masson, Walter ; Nogueira, Juan P ; Ami, María V

ObjectiveFamilial chylomicronemia syndrome (FCS) is a rare autosomal recessive metabolic disorder caused by mutations related to chylomicron metabolism. The objective of this study is to show the development and results of a screening program for FCS in Argentina.Materials and methodsA cross-sectional study was performed. All patients > 18 years with a triglyceride level ≥ 1,000 mg/dL in the period from January 1, 2017 to December 31, 2021 were included. The program was developed in three stages: (1) Review of electronic records and identification of suspected laboratory cases (triglyceride level ≥ 1,000 mg/dL); (2) Identification of suspected clinical cases (all suspected laboratory cases that had no relevant secondary factors) and application of the FCS score to define probable cases (score ≥ 10); (3) Perform genetic tests in probable cases.ResultsGlobally, 348 suspected laboratory cases (mean age of 49.9 years, 77.3% men) were included. The median triglycerides level was 1,309 mg/dL (interquartile range 1,175-1,607 mg/dL). In total, 231 patients were categorized as suspected clinical cases. After applying the FCS score, 3% of them were classified as "very likely FCS" (probable cases). Four variants of uncertain significance have been identified. No previously reported pathogenic variants were detected.ConclusionThis study shows a screening program for the detection of FCS. Although no patient was diagnosed with FCS, we believe that more programs of these characteristics should be developed in our region, given the importance of early detection of this metabolic disorder.

01 Jan 2022·SAGE Open Medical Case Reports

Severe hypertriglyceridemia as a cause of necrotizing pancreatitis in a pediatric patient with familial hyperchylomicronemia syndrome: A case report

Author: Lema, Adriana ; Valenzuela-Vallejo, Laura ; Meléndrez-Vásquez, Daniela ; Rivera-Nieto, Carolina ; Fernandez, Monica ; Durán-Ventura, Paola

Familial hyperchylomicronemia syndrome is a monogenic autosomal recessive disorder that causes severe and refractory hypertriglyceridemia. This uncommon condition is challenging to diagnose and treat and can lead to comorbidities such as acute pancreatitis. Although treatment options are limited in the pediatric population, strict diets and treatments approved for other dyslipidemias may be implemented in familial hyperchylomicronemia syndrome, given the lack of pharmacological interventions available. We report a 14-year-old female presented to the emergency room with abdominal pain suggestive of acute pancreatitis. Biochemical analysis revealed a triglyceride value of 4260 mg/dL. Treatment for triglyceride reduction with a strict CHILD-2 triglyceride-lowering diet, insulin infusion, fibrates, and multiple plasmapheresis were initially insufficient. Primary hypertriglyceridemia was suspected, and genetic testing identified a homozygous pathogenic variant in the lipoprotein lipase gene, diagnosing familial hyperchylomicronemia syndrome. She was discharged with a maximum dose of fibrate, statin, omega-3 fatty acids, and a restrictive diet. At her 1-month and 9-month follow-ups, her triglyceride values were 756 and 495 mg/dL, respectively, without incident complications. Familial hyperchylomicronemia syndrome is an uncommon condition with limited available literature and treatment options, especially in the pediatric population. Acute pancreatitis secondary to severe hypertriglyceridemia is a condition with a high risk of mortality which requires prompt clinical suspicion and treatment.

01 Jun 2018·The Journal of Clinical Endocrinology & MetabolismQ2 · MEDICINE

Orlistat Therapy for Children With Type 1 Hyperlipoproteinemia: A Randomized Clinical Trial

Q2 · MEDICINE

Article

Author: Patni, Nivedita ; Quittner, Claudia ; Garg, Abhimanyu

AbstractContextPatients with type 1 hyperlipoproteinemia (T1HLP), a rare genetic disorder, have extreme chylomicronemia and recurrent episodes of acute pancreatitis. Currently, the only therapeutic option is to consume an extremely low-fat diet because the triglyceride-lowering medications are not efficacious.ObjectiveTo determine the efficacy of orlistat, a gastric and pancreatic lipase inhibitor, in reducing serum triglyceride levels in patients with T1HLP.Design and SettingWe conducted a randomized, open-label, clinical trial with a four-period, two-sequence (“orlistat” and “off orlistat” for 3 months), crossover study design.PatientsTwo unrelated young Asian Indian males (11 and 9 years old) with T1HLP due to homozygous large GPIHBP1 deletions were enrolled at the UT Southwestern Medical Center. The patients were randomized to receive 3 months of orlistat or no therapy (off), then crossed over to the other arm, and this sequence was then repeated. Fasting serum triglyceride levels, fat-soluble vitamins, and gastrointestinal side effects were assessed.ResultsCompared with the two off periods, orlistat therapy reduced serum triglycerides by 53.3% and 53.0% in patient 1 and 45.8% and 62.2% in patient 2. There was no deficiency of fat-soluble vitamin levels, and their growth continued. There were no serious adverse effects of orlistat; patient 1 had a mild increase in passage of gas and bloating, and patient 2 had constipation with mild stool leakage.ConclusionOrlistat is safe and highly efficacious in lowering serum triglycerides in children with T1HLP and should be the first-line therapy in conjunction with an extremely low-fat diet.

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