Clinical trials: Inherited Metabolic Disorders, active
Pancreas Cancer, Pancreatitis
Pancreas Registry and High Risk Registry
The purpose of this study is to establish a registry of patients with pancreatic diseases. Patients included in the registry may include those with: pancreatic cancer, precancerous lesions of the pancreas, inflammatory lesions of…
- Conditions
- Pancreas Cancer, Pancreatitis, Chronic Pancreatitis, Pancreatic Cyst
- Trial name
- NCT02775461
- Where
- 2 sites in United States
- Volunteers
- 1,368 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Phenylketonuria (PKU)
A Study of MZE782 in Adults With PKU
The purpose of this study is to evaluate the safety, tolerability, and efficacy of MZE782 in adults with Phenylketonuria (PKU).
- Trial name
- CIPheR (NCT07694440)
- Testing
- MZE782
- Where
- 9 sites in United States, France and 1 more
- Volunteers
- 38 people
- Sponsor
- Maze Therapeutics
Acute Liver Failure, Wilson Disease
Daily Versus Alternate Day Plasma Exchange in Wilson Disease With Acute Liver Failure in Children
Wilson disease in children has a varied presentation. Wilson disease with acute liver failure is associated with very high mortality and morbidity.
- Trial name
- NCT06698991
- Testing
- Plasma Exchange, Standard Medical Treatment
- Where
- India
- Volunteers
- 20 people
- Sponsor
- Institute of Liver and Biliary Sciences, India
Phenylketonuria
Effect of L-carnitine Supplementation on Phenylalanine and Brain-derived Neurotrophic Factor Levels in Infants and Children With Phenylketonuria
Effect of L-carnitine supplementation on phenylalanine and brain-derived neurotrophic factor levels in infants and children with phenylketonuria L-carnitine is mainly obtained from foods such as red meat and milk that are limited…
- Trial name
- NCT06901323
- Testing
- L-carnitine
- Where
- Egypt
- Volunteers
- 176 people, healthy volunteers welcome
- Sponsor
- Mansoura University
Colorectal Cancer
FITting Non-invasive Tests in Lynch Syndrome Surveillance
The purpose of this clinical study is to evaluate the accuracy of the fecal immunochemical test (FIT) in comparison to colonoscopy in patients with Lynch Syndrome (LS) who are undergoing colonoscopy surveillance.
- Trial name
- NCT06898996
- Testing
- Fecal immunochemical test
- Where
- 3 sites in United States
- Volunteers
- 400 people
- Sponsor
- University of Chicago
Congenital Adrenal Hyperplasia, Classic Congenital Adrenal Hyperplasia
A Study in Pediatric Participants With Congenital Adrenal Hyperplasia (Balance-CAH)
The purpose of this study is to evaluate the safety, efficacy, pharmacokinetics (PK), and pharmacodynamics (PD) of atumelnant treatment in pediatric participants with classic congenital adrenal hyperplasia (CAH).
- Trial name
- NCT07159841
- Testing
- Atumelnant
- Where
- 52 sites in United States, Argentina and 11 more
- Volunteers
- 153 people
- Sponsor
- Crinetics Pharmaceuticals Inc.
Friedreich Ataxia, Cardiomyopathies
A Study to Investigate the Safety, Tolerability, and Pharmacokinetics of ATI-105 in Healthy Adults
The goal of this clinical trial is to learn how ATI-105 administered to healthy participants at works in the body at different doses and with or without food.
- Conditions
- Friedreich Ataxia, Cardiomyopathies, Central Nervous System Diseases, Neuromuscular Diseases
- Trial name
- NCT07869654
- Testing
- ATI-105
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Adjuvia Therapeutics, Inc.
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Fanconi Anemia
Eltrombopag for Fanconi Anemia
Background: Fanconi anemia is a genetic disease. Some people with it have reduced blood cell counts. This means their bone marrow no longer works properly.
- Trial name
- NCT03206086
- Testing
- Eltrombopag
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Refractory Hypercholesterolemia, Familial Hypercholesterolemia
Safety and Efficacy Study of NGGT006 in Refractory Hypercholesterolemia Patients
This is an early phase 1, open-label, single-center, dose-escalation pilot trial to evaluate the safety and efficacy of an intravenous infusion of NGGT006 in patients with refractory Hypercholesterolemia diagnosed by gene testing…
- Trial name
- NCT06293729
- Testing
- NGGT006
- Volunteers
- 9 people
- Sponsor
- Suzhou Municipal Hospital
Shwachman-Diamond Syndrome, SDS
Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform
The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share their experience living with SDS via a safe…
- Conditions
- Shwachman-Diamond Syndrome, SDS, IBMF, Congenital Neutropenia
- Trial name
- SDS-GPS (NCT06999954)
- Where
- United States
- Volunteers
- 8,000 people
- Sponsor
- Shwachman-Diamond Syndrome Alliance Inc
Glucose Metabolism Disorders in Cystic Fibrosis
Reproducibility of Continuous Glucose Monitoring (CGM) in the Assessment of Glucose Metabolism Disorders in Children With Cystic Fibrosis
Glucose metabolism disorders in cystic fibrosis (CF-GMD) are common and have a negative clinical impact. Screening currently relies on the oral glucose tolerance test (OGTT); however, this procedure is burdensome and complex for…
- Trial name
- CGMUCODIAB (NCT07851831)
- Testing
- Continuous Glucose Monitoring, Eating Habits Questionnaire, Use of an actigraphy watch
- Where
- France
- Volunteers
- 30 people
- Sponsor
- Hospices Civils de Lyon
Sickle Cell Disease, Thalassemia
RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs)
Rare Anaemia Disorders (RADs) is a group of rare diseases characterized for presenting anaemia as the main clinical manifestation.
- Conditions
- Sickle Cell Disease, Thalassemia, Hemolytic; Anemia, Hereditary, Due to Enzyme Disorder, Anemia Due to Membrane Defect
- Trial name
- RADeep (NCT06213402)
- Testing
- Data collection from EHR.
- Where
- Spain
- Volunteers
- 32,564 people
- Sponsor
- Hospital Universitari Vall d'Hebron Research Institute
Lynch Syndrome, Li Fraumeni Syndrome
Video Capsule Examination in Patients With Lynch Syndrome
Surveillance for colorectal cancer (CRC) in patients predisposed to develop CRC during their lifetime has been impacted by access to colonoscopy suites and endoscopy specialists in the past couple of years.
- Conditions
- Lynch Syndrome, Li Fraumeni Syndrome, PTEN Hamartoma Syndrome, FAP
- Trial name
- PILLCAM (NCT06712095)
- Testing
- Video capsule investigation
- Where
- United Kingdom
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Royal Marsden NHS Foundation Trust
Neuro-Ophthalmology, Optic Neuropathies
Optic Nerve Head Evaluation Through Multimodal Blood Flow Analysis: a Prospective Observational, Multi-center Study
OCT-A and eco-colordoppler are technologies which enable optic nerve head (ONH) blood perfusion detection. The aim of the study is to assess ONH vascular and structural components in optic neuropathies with and without ONH edema…
- Conditions
- Neuro-Ophthalmology, Optic Neuropathies, Optic Atrophy, Hereditary, Leber, Optic Neuropathy, Anterior Ischemic
- Trial name
- FlowONH (NCT07075887)
- Volunteers
- 70 people
- Sponsor
- Barboni
Non-familial Hypercholesterolemia and Mixed Hyperlipidemia
A Study to Evaluate the Safety, Efficacy of SYH2053 in Chinese Participants With Non-familial Hypercholesterolemia and Mixed Hyperlipidemia on a Background of Lipid-lowering Therapy
The purpose of this study is to compare the effectiveness, safety of SYH2053 in participants with primary hypercholesterolemia (non-familial) or mixed dyslipidemia on a background of lipid-lowering therapy.
- Trial name
- NCT07421284
- Where
- China
- Volunteers
- 900 people
- Sponsor
- CSPC Zhongnuo Pharmaceutical (Shijiazhuang) Co., Ltd.
Cardiovascular Abnormalities, Arterial Blood Pressure
Multicenter Study on Cardiovascular and Metabolic Complications in Patients With Biochemically Silent Pheochromocytomas and Paragangliomas
The aim of the study is to characterise the cardiovascular and metabolic complications pre- and post-surgery of patients with biochemically negative PPGL and to compare them with normal individuals and patients with secreting…
- Conditions
- Cardiovascular Abnormalities, Arterial Blood Pressure, Heart Rate, Congestive Heart Failure Chronic
- Trial name
- NCT07316075
- Where
- Greece
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Laikο General Hospital, Athens
Fabry Disease
A Study of Patients With Fabry Disease (US Specific)
This is an observational study to evaluate the effects of treatment on long-term effectiveness, safety, and health-related quality of life (HRQOL) in patients with Fabry disease, with a main focus on migalastat.
- Trial name
- NCT06906367
- Testing
- migalastat HCl, ERT
- Where
- 8 sites in United States
- Volunteers
- 450 people
- Sponsor
- Amicus Therapeutics
Lynch Syndrome
CAD-EYE System for the Detection of Neoplastic Lesions in Patients With Lynch Syndrome
Lynch syndrome (LS) is the most common genetic predisposition syndrome for colorectal cancer (CRC), responsible for around 2-4% of cancers.
- Trial name
- CADLYNCH (NCT05963191)
- Testing
- Colorectal cancer screening with CAD EYE colonoscopy
- Where
- France
- Volunteers
- 272 people
- Sponsor
- PERROD Guillaume
Diamond Blackfan Anemia, Dyskeratosis Congenita
Cancer in Inherited Bone Marrow Failure Syndromes
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders.
- Conditions
- Diamond Blackfan Anemia, Dyskeratosis Congenita, Fanconi Anemia, Shwachman Diamond Syndrome
- Trial name
- NCT00027274
- Where
- 2 sites in United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
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