Glycogen Storage Disease

Researchers are studying glycogen storage disorders (GSDs), a group of inherited metabolic conditions affecting glycogen production or breakdown, primarily involving the liver and muscles in children. This observational study aims to establish a comprehensive Indian GSD registry to describe the spectrum of genetic defects, natural course, genotype-phenotype correlations, outcomes, and responses to medical therapy in Indian children with hepatic GSDs. The study's results will provide important data to guide individual patient management and policy decisions for diagnosis and treatment across India. The study is a multicentric retrospective and prospective registry enrolling genetically confirmed pediatric hepatic GSD cases from various centers. Retrospective data, including past clinical information and genetic details, will be collected and analyzed between May 2024 and April 2025, with ongoing follow-up data gathered every 6 to 12 months. New centers can join and contribute data at any time, and prospective data collection will continue for newly diagnosed patients. Participants will be monitored over time through clinical data collection, genetic analysis, and long-term follow-up, including outcomes after liver transplantation if applicable. Researchers will evaluate clinical presentations and long-term survival with native liver or post-transplant, and assess genetic variations and their relationship to clinical features. The study duration extends up to five years, with continuous data collection to better understand disease progression and treatment outcomes.

Researchers are evaluating the effects of Diaberine, a berberine-based nutraceutical, on blood sugar regulation and metabolism in adults with metabolism disorder. This randomized, triple-blind, placebo-controlled trial will study 80 participants aged 18 to 70 over 24 weeks to assess how well this dietary supplement may aid in these health areas. Participants will be randomly assigned to one of two groups. One group will take Diaberine capsules containing Vitamin B12, berberine, magnesium citrate, cinnamon bark extract, chromium, and other ingredients three times daily, 15 minutes before meals. The other group will take placebo capsules with similar appearance but without the active ingredients. Both treatments will continue for 24 weeks with regular monitoring. During the study, participants will have their blood sugar regulation and metabolism measured at baseline, week 12, and week 24. Additionally, quality of life and weight changes will be tracked at multiple points throughout the 24 weeks. Participants will be monitored through questionnaires, blood tests, and weight assessments to evaluate the supplement's effects and tolerance over time.

This research is a global, multicenter, prospective observational registry studying patients with Pompe disease, including both late-onset (LOPD) and infantile-onset (IOPD) forms. It enrolls both untreated patients and those receiving approved therapies to better understand the long-term safety, real-world effectiveness, and quality of life impacts of treatments for Pompe disease. The study also aims to describe the natural history of untreated Pompe disease. Participants include groups receiving different enzyme replacement therapies such as Cipaglucosidase alfa with Miglustat, other approved ERTs like Alglucosidase alfa or Avalglucosidase alfa, as well as untreated individuals who are not on any medical therapy for Pompe disease. No experimental treatments are given as this is an observational study tracking real-world treatment use and outcomes. During the study, participant data on adverse events, treatment effectiveness, quality of life, and patient-reported outcomes will be collected over a period of at least five years. Researchers will monitor safety through the frequency of adverse events and serious adverse events. Participants' health and treatment impacts will be regularly evaluated to provide long-term insights into Pompe disease management and outcomes.

This observational study follows patients diagnosed with Pompe disease who are receiving or preparing to receive enzyme replacement therapy. The research aims to monitor long-term outcomes and the overall health of these patients over an extended period, providing valuable information about the disease progression and treatment experience. Participants will be observed prospectively without any investigational treatments assigned by the study. All enrolled individuals are those already receiving enzyme replacement therapy or preparing to begin it, and the study collects data on their health and treatment outcomes over time. During the study, patients will be regularly monitored for all-cause morbidities over a 10-year period. Researchers will collect health information to understand the long-term effects of enzyme replacement therapy in Pompe disease. Participation involves ongoing health assessments, and the study extends until December 2026, providing extensive long-term outcome data.

Researchers are studying how metabolism relates to body composition and body surface area (BSA) in a wide range of people, including healthy individuals and those with conditions like diabetes, obesity, kidney disease, or cancer. They aim to find more accurate ways to measure metabolism and understand how measured BSA compares to estimates based on height and weight. This observational natural history study is sponsored by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). Participants will spend 2 days and 1 night in the hospital for testing. They will provide medical history and information about their activity, diet, and lifestyle, and consume a special diet during the stay. Tests include lying under a clear hood to measure breath gases, body scanning while lying down and standing, measuring electrical signals through the body, hand strength tests, and providing blood and urine samples after drinking salty water. Participants may return for up to 8 such visits per year, with at least 2 weeks between visits. During the study, researchers will monitor resting energy expenditure, body composition, and BSA through these tests and questionnaires. They will track differences between measured and predicted BSA and how BSA relates to energy use. Safety and ability to complete tests are monitored, and the total participation time depends on the number of visits. This detailed assessment helps understand metabolism across health and disease states.

Researchers are studying BEAM-301, an investigational treatment, in adults with Glycogen Storage Disease Type Ia (GSDIa) who have a specific genetic variant (G6PC1 c.247C>T). This Phase 1/2 trial aims to evaluate the safety, tolerability, and effectiveness of BEAM-301 and to find the best dose for treatment. The study is open-label and involves multiple centers. Participants will receive a single intravenous dose of BEAM-301, which contains messenger RNA and guide RNA formulated in lipid nanoparticles designed to correct the genetic mutation causing GSDIa. This dose-exploration study will assess how the treatment behaves in the body and its effects over a 24-month period. During the study, participants will be monitored for treatment-emergent adverse events and dose-limiting toxicities. Researchers will also evaluate changes in episodes of low blood sugar, metabolic stability during fasting, starch supplementation needs, and blood levels of glucose and other metabolic markers. Pharmacokinetic parameters such as peak concentration, area under the curve, and half-life of BEAM-301 will be measured. The total study duration for each participant spans up to 24 months after treatment.

Researchers are conducting a study to systematically screen newborns in the Normandy region for lysosomal storage diseases such as Mucopolysaccharidosis type I and Pompe disease. This observational study aims to evaluate the occurrence and epidemiology of these diseases using dried blood samples collected from newborns. The study is based on previous pilot work and seeks to include about 100,000 newborns over a period of three years. All newborns born in Normandy maternity hospitals who are participating in the national neonatal screening program will have additional blood samples collected on blotting paper for this study. The screening occurs within the first few days after birth, typically from day 2 to day 4. The study will continue until the target number of participants is reached. Participants will have blood samples collected as part of routine neonatal screening, with extra samples taken specifically for this research. The main outcome measured is the number of newborns screened relative to the number of samples collected. Secondary outcomes include the number of positive cases detected for Mucopolysaccharidosis type I and Pompe disease. The study involves parental consent and monitors newborns during these early days, with no further intervention or long-term follow-up described.

Researchers are evaluating the effectiveness of low volume Transanal Irrigation (TAI) using the Qufora IrriSedo MiniGo device combined with standard conservative treatments compared to conservative treatment alone for patients with Low Anterior Resection Syndrome (LARS). This condition affects individuals who have undergone surgery for rectal cancer. The study aims to assess improvements in clinical symptoms of LARS over a three-month period. Participants are divided into two groups: one receiving low volume TAI with the MiniGo device plus standard conservative care, which includes dietary management, counseling, and prescribed medications excluding suppositories and physiotherapy; and another group receiving only the standard conservative treatments. The study includes follow-ups at 6 weeks, 3 months, and up to 12 months to monitor various outcomes. During the study, participants will be regularly assessed using the LARS score to measure symptom changes, quality of life questionnaires (EORTC QLQ-C30 and QLQ-CR29), incontinence scores, patient satisfaction, treatment compliance, bowel management time, and healthcare resource usage. Data will be collected at multiple intervals including 6 weeks, 3 months, 6 months, 9 months, and 12 months to thoroughly evaluate the treatment impact and patient preferences.

Researchers are studying DNL952 in adults with late-onset Pompe disease (LOPD) to understand its safety, how the body processes it, and its effects. This Phase 1, open-label, multicenter trial focuses on evaluating safety and tolerability across different dose levels of DNL952 in participants with LOPD. The study is sponsored by Denali Therapeutics Inc. and aims to gather important information about treatment impact on this condition. The study involves giving DNL952 through repeated intravenous doses to adult participants diagnosed with LOPD. Participants are grouped into several cohorts, some of which require prior enzyme-replacement therapy with specific drugs, while others have not received such therapy recently. The study is non-randomized and open-label, meaning all participants receive the investigational drug and know the treatment they receive. Participants will be monitored for 48 weeks to assess treatment-emergent adverse events, infusion-related reactions, and pharmacokinetic parameters such as drug concentration over time. Safety and tolerability data will be collected alongside laboratory and clinical assessments. This involves tracking how the drug behaves in the body and its potential side effects. The study lasts about a year, including screening and treatment periods, with careful follow-up to understand the drug's effects in people with LOPD.

This research aims to evaluate the accuracy of two home monitoring devices—the Lactate Plus meter and the Accu-Chek Guide glucometer—in patients with Glycogen Storage Disease Types Ia, Ib, and XI. The study focuses on comparing these devices' readings with laboratory serum lactate and glucose levels to determine their reliability for this patient group. Participants will have a one-time planned hospital admission lasting about 8 hours, during which they will undergo hourly blood draws and finger-stick tests. These measurements will be used to compare the device readings against lab results throughout the 8-hour period. During the study visit, patients will have blood samples taken every hour alongside finger-stick glucose checks. Researchers will assess whether the Lactate Plus meter and Accu-Chek glucometer readings are within 20% of the laboratory values 95% of the time. This careful monitoring and comparison will help determine the accuracy of these home testing devices for managing Glycogen Storage Disease.