SSDXA-14 is a Phase 2 (feasibility/pilot) double-blind, placebo-controlled, crossover study to evaluate the efficacy and safety of sacrosidase and placebo in 25 subjects objectively diagnosed with fructan intolerance.

开始日期2023-06-05

申办/合作机构

QOL Medical LLC

NCT05480761 / Recruiting临床4期

Evaluation of a 7-Day Therapeutic Trial Dose of Commercial Sucraid® (Sacrosidase) Oral Solution for Alleviating Congenital Sucrase-Isomaltase Deficiency (CSID) Symptoms in Pediatric Subjects With Low, Moderate, and Normal Sucrase Levels

This is a Phase 4, U.S. only, multi-center study using a 7-day therapeutic response dose (TRD) of commercial Sucraid® to assess the response of treatment in 1100 symptomatic pediatric (6 months to 17 years old) subjects with low, moderate, and normal sucrase activity determined by a disaccharidase assay via EGD within 1 year of the Screening Visit. This study will also explore the relationship between known genetic CSID mutations and sucrase activities via (EGD) disaccharidase assay (low, moderate, and normal).

开始日期2022-08-01

申办/合作机构

QOL Medical LLC

NCT02784067 / Withdrawn临床4期

A Multicenter, Double-Blind, Placebo-Controlled Trial to Evaluate the Frequency of Genetic Sucrase-Isomaltase Deficiency Genotypes, and the Efficacy and Safety of Sucraid® (Sacrosidase) Oral Solution in Subjects With Chronic Diarrhea and Sucrase Deficiency

S09A is a Phase 4, multicenter, randomized, double-blind, placebo-controlled, parallel study examining the efficacy and safety of a Sucraid (sacrosidase) Oral Solution in comparison to a placebo in 150-200 subjects with chronic diarrhea possibly attributable to sucrase deficiency.

开始日期2016-05-01

申办/合作机构

QOL Medical LLC

100 项与 Sacrosidase 相关的临床结果

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100 项与 Sacrosidase 相关的转化医学

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100 项与 Sacrosidase 相关的专利（医药）

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项与 Sacrosidase 相关的文献（医药）

2024-06-02·Scandinavian journal of gastroenterology

Congenital sucrase–isomaltase deficiency in Türkiye; a single center experience

Article

作者: Çetin, Funda ; Barut, Doğan ; Çağan Appak, Yeliz ; Güven, Burcu ; Selimoğlu, Ayşe ; Kıran Taşcı, Ezgi ; Karakoyun, Miray ; Onay, Huseyin ; Kunay, Bora ; Aydoğdu, Sema ; Aksoy, Betül

BACKGROUND:

Congenital sucrase-isomaltase deficiency (CSID) is a rare inherited carbohydrate malabsorption disorder caused by sucrase-isomaltase (SI) gene variants. In CSID, an autosomal recessively inherited disease, symptoms can also be seen in individuals with heterozygous mutations.

METHODS:

The variant spectrum was evaluated retrospectively in individuals who presented with chronic diarrhea between 2014 and 2022 and had undergone genetic testing of the SI gene considering CSID due to diet-related complaints.

RESULTS:

Ten patients with chronic diarrhea were genetically evaluated with SI gene sequencing. In patients diagnosed with CSID and whose symptoms improved with enzyme replacement therapy, the genetic mutation zygosity was found to be heterozygous at a rate of 90%. In 10% of the patients, the mutation was homozygous. Limiting consuming sucrose and isomaltose foods reduced the patients' complaints, but the symptoms did not disappear completely. With the initiation of sacrosidase enzyme replacement therapy, the patient's complaints completely disappeared.

CONCLUSION:

In CSID, defined as an autosomal recessive disease, clinical symptoms can also be seen in heterozygous cases previously described as carriers, and these patients also benefit from sacrosidase enzyme replacement therapy. In light of these findings, the autosomal recessive definition of CSID does not fully characterize the disease.What is Known:CSID is a rare inherited carbohydrate malabsorption disorder caused by sucrase-isomaltase gene variants.In congenital sucrase-isomaltase deficiency, an autosomal recessively inherited disorder, symptoms can also be seen in individuals with heterozygous mutations.What is new:Severe disease symptoms can also be seen in heterozygous cases, which were thought to be carriers because the disease was previously described as autosomal recessive.Sacrosidase enzyme replacement therapy also eliminates the disease symptoms in patients with heterozygous CSID mutations.This is the second study on sucrase-isomaltase enzyme deficiency pediatric groups in Türkiye and Europe.

2024-04-01·Journal of pediatric gastroenterology and nutrition

Genetic and acquired sucrase‐isomaltase deficiency: A clinical review

Review

作者: Danialifar, Tanaz Farzan ; Di Lorenzo, Carlo ; Chumpitazi, Bruno P. ; Mehta, Devendra I.

Abstract:

Genetic sucrase‐isomaltase deficiency (GSID) is an inherited deficiency in the ability to digest sucrose and potentially starch due to mutations in the sucrase‐isomaltase (SI) gene. Congenital sucrase‐isomaltase deficiency is historically considered to be a rare condition affecting infants with chronic diarrhea as exposure to dietary sucrose begins. Growing evidence suggests that individuals with SI variants may present later in life, with symptoms overlapping with those of irritable bowel syndrome. The presence of SI genetic variants may, either alone or in combination, affect enzyme activity and lead to symptoms of different severity. As such, a more appropriate term for this inherited condition is GSID, with a recognition of a spectrum of severity and onset of presentation. Currently, disaccharidase assay on duodenal mucosal tissue homogenates is the gold standard in diagnosing SI deficiency. A deficiency in the SI enzyme can be present at birth (genetic) or acquired later, often in association with damage to the enteric brush‐border membrane. Other noninvasive diagnostic alternatives such as sucrose breath tests may be useful but require further validation. Management of GSID is based on sucrose and potentially starch restriction tailored to the individual patients' tolerance and symptoms. As this approach may be challenging, additional treatment with commercially available sacrosidase is available. However, some patients may require continued starch restriction. Further research is needed to clarify the true prevalence of SI deficiency, the pathobiology of single SI heterozygous mutations, and to define optimal diagnostic and treatment algorithms in the pediatric population.

2021-08-01·Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation2区 · 医学

The patient journey to diagnosis and treatment of congenital sucrase-isomaltase deficiency

2区 · 医学

Article

作者: Boney, Anne ; Flood, Emuella ; Romero, Beverly ; Smith, Heather

Abstract:

Purpose:

Congenital sucrase-isomaltase deficiency (CSID) is a rare genetic disorder characterized by a deficiency of the sucrase-isomaltase (SI) enzyme complex within the brush border membrane of the small intestine. Mutations in the SI gene result in abnormal synthesis and/or incorrect transport of the SI enzyme. Patients with CSID generally have reduced sucrase activity, but levels of isomaltase activity range from absent to almost normal. This study sought to better understand the experience of patients with CSID prior to, during, and after their diagnosis and its subsequent treatment with sacrosidase.

Methods:

This was a cross-sectional interview study conducted in conjunction with a longitudinal, observational study of US patients prescribed and taking sacrosidase for at least three consecutive months as treatment for CSID. The observational study included both children and adults.

Results:

This qualitative interview study explored the experiences of 43 adult and pediatric patients (n = 8 adults and n = 35 children/adolescents) with CSID pre-, during, and post-diagnosis. Findings suggest that a CSID diagnosis is particularly problematic given the disparate range of more commonly understood gastrointestinal (GI) disorders. After diagnosis and treatment with sacrosidase, participants reported considerable improvement in symptoms and health-related quality of life (HRQL), yet symptoms persist that continue to affect daily life, indicating areas of potential unmet need.

Conclusion:

Educating clinicians about CSID may help improve the overall diagnosis experience. As this research is the first of its kind in CSID, additional research, qualitative and quantitative, will be important to furthering the understanding of HRQL impact and unmet need experienced by this population and identifying ways to best meet those needs.

项与 Sacrosidase 相关的新闻（医药）

2022-09-06

·BioSpace

QOL Medical, LLC receives FDA approval of Sucraid® (sacrosidase) Oral Solution single-use containers for patients with Congenital Sucrase-Isomaltase Deficiency (CSID)

VERO BEACH, Fla., Sept. 6, 2022 /PRNewswire/ -- QOL Medical, LLC, a ground-breaking, rare disease pharmaceutical company, announced today that the United States (U.S.) Food & Drug Administration (FDA) approved Sucraid® single-use containers for patients more than 33 lb (15 kg) with Congenital Sucrase-Isomaltase Deficiency (CSID). Currently, Sucraid® (sacrosidase) Oral Solution is the only pharmaceutical treatment for CSID in children and adults. Sucraid® is an enzyme replacement therapy for genetically determined sucrase deficiency, which is part of CSID. Sucraid® helps the breakdown and absorption of sucrose (table sugar) from the intestine, which relieve the gastrointestinal symptoms of CSID. Now Sucraid® is available in both Sucraid® multi-dose bottles and Sucraid® single-use containers. More information can be found at . "If untreated, patients living with this chronic condition suffer from debilitating symptoms. We are always looking for ways to improve their quality of life. These new single-use containers will make it easier for them to manage their medication," said Weng Tao, MD, PhD, COO of QOL Medical, LLC. "FDA's approval of Sucraid® single-use containers, with three-day room temperature stability, offer greater convenience for CSID patients on the go." People with CSID are unable to properly digest sucrose (table sugar), which is found naturally in many fruits and vegetables, as well as added to many processed foods. In adolescents and adults, CSID has been characterized by symptoms of chronic abdominal pain, gas, loose stools, and diarrhea, which overlap with common irritable bowel syndrome (IBS) symptoms. In infants, CSID classically presents as explosive watery diarrhea, failure to thrive, diaper rash, irritability, and acidic stools. Important Safety Information INDICATION Sucraid® (sacrosidase) Oral Solution is an enzyme replacement therapy for the treatment of genetically determined sucrase deficiency, which is part of congenital sucrase-isomaltase deficiency (CSID). IMPORTANT SAFETY INFORMATION FOR SUCRAID® (SACROSIDASE) ORAL SOLUTION Sucraid® may cause a serious allergic reaction. If you notice any swelling or have difficulty breathing, get emergency help right away. Sucraid® does not break down some sugars that come from the digestion of starch. You may need to restrict the amount of starch in your diet. Your doctor will tell you if you should restrict starch in your diet. Tell your doctor if you are allergic to, have ever had a reaction to, or have ever had difficulty taking yeast, yeast products, papain, or glycerin (glycerol). Tell your doctor if you have diabetes, as your blood glucose levels may change if you begin taking Sucraid®. Your doctor will tell you if your diet or diabetes medicines need to be changed. Some patients treated with Sucraid® may have worse abdominal pain, vomiting, nausea, or diarrhea. Constipation, difficulty sleeping, headache, nervousness, and dehydration have also occurred. Check with your doctor if you notice these or other side effects. Sucraid® has not been tested to see if it works in patients with secondary (acquired) sucrase deficiency. NEVER HEAT SUCRAID® OR PUT IT IN WARM OR HOT BEVERAGES OR INFANT FORMULA. Do not mix Sucraid® with fruit juice or take it with fruit juice. Take Sucraid® as prescribed by your doctor. Normally half of the dose of Sucraid® is taken before a meal or snack and the other half is taken during the meal or snack. Sucraid® should be refrigerated at 36°F-46°F (2°C-8°C) and should be protected from heat and light. You are encouraged to report negative side effects of prescription drugs to the FDA. Visit FDA.gov/medwatch or call 1-800-FDA-1088. Click here to read our full prescribing information Sucraid® PI. About QOL Medical, LLC QOL Medical is a specialty biopharmaceutical company dedicated to improving clinical outcomes and overall quality of life for patients with rare diseases. QOL Medical is a patient-centric company founded in 2003 to focus on the acquisition and commercialization of orphan and gastrointestinal products in underserved markets. Learn more at . Sucraid® is a registered trademark of QOL Medical, LLC. All rights reserved. Corporate Contact: QOL Medical, LLC 3405 Ocean Drive Vero Beach, FL 32963 Phone: 866-469-3773 Fax: 772-365-3375 Email: info@qolmed.com

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