Glycogen Storage Disease

Glycogen storage disorders GSD are inherited metabolic diseases affecting glycogen production or breakdown, mainly involving the liver and muscles. These disorders vary in severity from mild to fatal in infancy. This study focuses on hepatic GSD types 0a, I, III, IV, VI, IX, and XI in Indian children. It aims to establish a comprehensive Indian GSD registry to better understand the spectrum of genetic defects, natural progression, and how genetic variations relate to disease symptoms in this population. The study is a multicenter observational effort collecting both retrospective and ongoing prospective data from genetically confirmed pediatric hepatic GSD cases. It involves analyzing clinical presentations, outcomes, and genetic variations across multiple centers in India. Retrospective data collection and analysis are planned between May 2024 and April 2025, with continued data submission from new centers and periodic follow-up every 6 months to 1 year. The registry will help guide individualized treatment decisions, including medical therapy or liver transplantation. Participants are children diagnosed genetically with hepatic GSD. The research team reviews clinical data, genetic testing results, and long-term outcomes such as native liver survival and post-transplant complications. The study measures the association between specific gene variants and clinical disease expression over a 5-year period. This ongoing project aims to improve understanding of GSD in Indian children to support better diagnosis, management, and health policies.

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 supplements 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 investigating how metabolism, body composition, and body surface area relate in both healthy individuals and those with metabolic conditions such as diabetes, obesity, renal disease, or cancer. The study aims to improve the accuracy of metabolic rate measurements, which have traditionally relied on simple formulas using height and weight, which may not work well for everyone. Participants will spend two days and one night in the hospital during each visit. They will provide medical history, answer questions about their activity, diet, and lifestyle, and consume a special diet. They will undergo various tests including breathing gas measurements while lying under a clear hood, body scanning on a padded table and with a 3D scanner, electrical signal speed testing through the body, hand strength measurement, and collection of blood and urine after drinking salty water. Participants may return up to eight times per year with at least two weeks between visits. During the study, participants will be evaluated through these tests and questionnaires to understand their resting energy expenditure and body measurements. The primary outcomes include comparing measured versus predicted body surface area and determining how measured body surface area relates to energy expenditure independent of body composition. The study will continue until July 2031, and participants health and ability to complete tests will be monitored throughout their involvement.

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 12 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 evaluating DNL952 in adult participants with late-onset Pompe disease LOPD through a Phase 1, open-label, multicenter study. The main goal is to assess the safety, tolerability, pharmacokinetics, and pharmacodynamics of DNL952 across different dose levels in participants with LOPD. This study focuses on gathering data to understand the treatments effects in this population. Participants will receive DNL952 as an intravenous repeating dose. The study includes multiple cohorts, some of which have prior enzyme replacement therapy and others who have not received such treatment recently. The trial is non-randomized and open-label, allowing observation of safety and drug behavior over time. During the study, participants will be monitored for up to 48 weeks to assess adverse events, infusion-related reactions, and the drugs concentration and elimination in the blood. Researchers will conduct various evaluations including safety assessments and pharmacokinetic measurements. The total participation duration aligns with the 48-week primary outcome measurement period.

This research aims to evaluate the accuracy of two home monitoring devicesthe Lactate Plus meter and the Accu-Chek Guide glucometerin 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.