Clinical trials: Genetic Diseases, Inborn
Osteogenesis Imperfecta
Effects of a Physical Rehabilitation Program Using the Nintendo Wii on Children With Osteogenesis Imperfecta (OI)
Children with osteogenesis imperfecta are described as extremely sedentary and therefore fatigable, which strongly impacts their daily activities.
- Trial name
- NCT02542540
- Testing
- Training with Nintendo Wii console
- Where
- France
- Volunteers
- 20 people
- Sponsor
- Centre Hospitalier Universitaire de Saint Etienne
Hypobetalipoproteinemias
Study of the Absorption of Vitamin E Water-soluble Form (Pegylated) in the Familial Hypocholesterolemia With Chylomicron Retention
To evaluate the kinetics of intestinal absorption of vitamin E water-soluble form from the classical lipid-soluble form in a population of patients with intestinal malabsorption (hypocholesterolemias family by retention of…
- Trial name
- VEDROP (NCT01457690)
- Testing
- Tocofersolan, tocopherol alpha, Tocofersolan and tocopherol alpha
- Where
- France
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Myotonic Dystrophy 1
Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy
The purpose of this study is to determine whether Tideglusib is safe and efficacious in the treatment of adolescents and adults with congenital and juvenile-onset Myotonic Dystrophy.
- Trial name
- NCT02858908
- Testing
- Tideglusib
- Where
- United Kingdom
- Volunteers
- 16 people
- Sponsor
- AMO Pharma Limited
Cystic Fibrosis, Cystic Fibrosis Liver Disease
Real World Clinical Outcomes With Novel Modulator Therapy Combinations in People With CF (RECOVER)
RECOVER is a prospective, multicenter observational study designed to measure the real world clinical effectiveness of elexacaftor/tezacaftor/ivacaftor (ETI) triple combination therapy in people with cystic fibrosis initially…
- Conditions
- Cystic Fibrosis, Cystic Fibrosis Liver Disease, Cystic Fibrosis in Children, Adherence, Medication
- Trial name
- RECOVER (NCT04602468)
- Testing
- Elexacaftor/Tezacaftor/Ivacaftor
- Where
- 7 sites in Ireland, United Kingdom
- Volunteers
- 206 people
- Sponsor
- Royal College of Surgeons, Ireland
Pituitary Tumor, Endocrine Neoplasia
Epidemiology of Pituitary Tumours: Prevalence of Associated Neoplasia
The study aims to update current knowledge about the epidemiology of pituitary tumours (PiT), based on the wide body of scientific literature on new familial and/or syndromic forms.
- Conditions
- Pituitary Tumor, Endocrine Neoplasia, Hyperparathyroidism, Solid Tumor
- Trial name
- EpidemioPIT (NCT03973450)
- Testing
- Registration of familial forms and associated neoplasia
- Where
- Italy
- Volunteers
- 400 people
- Sponsor
- Neuromed IRCCS
Asthma, Asthma in Children
Allergy, Asthma, and Atopic Eczema in Finland
The summary is available at --> https://www.finnatopy.fi/summary
- Conditions
- Asthma, Asthma in Children, Allergy, Rhinitis, Allergic
- Trial name
- FinnATOPY (NCT06330974)
- Testing
- No intervention, No Intervention: Observational Cohort
- Where
- Finland
- Volunteers
- 1,600,000 people
- Sponsor
- Tampere University
Hereditary Angioedema Type I and II
Global Registry to Gather Data on Natural History of Patients With Hereditary Angioedema Type I and II
The objective of this international hereditary angioedema (HAE) register is to collect homogeneous clinical and laboratory data on patients with HAE type I and II gathering better information on the natural course of the disease…
- Trial name
- HGR (NCT03828279)
- Testing
- functional and antigenic C1 inhibitor
- Where
- Italy
- Volunteers
- 220 people, healthy volunteers welcome
- Sponsor
- HAE Global Registry Foundation
Diabetes Mellitus, Heart Disease
Deferoxamine for the Treatment of Hemochromatosis
When patients receive repeated blood transfusions the level of iron in the patient s blood can rise. When iron is processed in the body a protein known as hemosiderin can begin collecting in the organs.
- Conditions
- Diabetes Mellitus, Heart Disease, Hemochromatosis, Thalassemia
- Trial name
- NCT00001203
- Where
- United States
- Volunteers
- 151 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Osteogenesis Imperfecta, Brittle Bone Disorders
Pregnancy in Osteogenesis Imperfecta (OI) Registry
The purpose of this study is to learn about pregnancy outcomes in osteogenesis imperfecta (OI). Patients enrolled in the Brittle Bone Disorders (BBD) Contact Registry (CR) will be invited via email to participate in this study.
- Trial name
- NCT03072303
- Testing
- Web-based Survey
- Where
- United States
- Volunteers
- 170 people
- Sponsor
- University of South Florida
Anemia, Sickle Cell
Establishing a Repository of Blood and DNA Samples From People With Sickle Cell Disease (Comprehensive Sickle Cell Centers Collaborative Genotype-Phenotype Database and Sample Repository)
Sickle cell disease (SCD), also known as sickle cell anemia, is an inherited blood disease that can cause intense pain episodes.
- Trial name
- Gen/Phen (NCT00528203)
- Where
- 13 sites in United States
- Volunteers
- 3,640 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Epidermolysis Bullosa Dystrophica, Recessive, Ulcer
A Comparative Study of the Healing of Chronic Ulcers of Recessive Epidermolysis Bullosa : Dressing vs Amniotic Membrane
Skin wounds of Recessive Epidermolysis Bullosa Dystrophica (REBD) involve pain, superinfection, protein-losing, inflammation, and joint contractures are the bed of squamous cell carcinoma.
- Trial name
- MABUL (NCT02286427)
- Testing
- Amniotic Membrane
- Where
- France
- Volunteers
- 22 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Primary Hyperoxaluria
Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Patients With Primary Hyperoxaluria
The purpose of this study is to determine if Oxalobacter formigenes is effective at lowering urinary oxalate levels in patients with primary hyperoxaluria.
- Trial name
- NCT02012985
- Testing
- Oxabact OC5 capsules
- Where
- 8 sites in France, Germany and 1 more
- Volunteers
- 28 people
- Sponsor
- OxThera
Mucopolysaccharidosis I, Mucopolysaccharidosis VI
Stem Cell Transplantation for Hurler
The purpose of this study is to determine the safety and engraftment of donor hematopoietic cells using this conditioning regimen in patients undergoing a hematopoietic (blood forming) cell transplant for Hurler syndrome…
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis VI, Mannosidosis, Mucolipidosis Type II (I-cell Disease)
- Trial name
- NCT00176917
- Testing
- Stem Cell Transplant, Busulfan, Cyclophosphamide, ATG
- Where
- United States
- Volunteers
- 41 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Retinitis Pigmentosa
Retinitis Pigmentosa Clinical Measures and Repeatability Testing of Potential Outcome Measures
Background: Retinitis pigmentosa (RP) is a group of blinding eye diseases. It is caused mostly by mutations in photoreceptor-expressed genes. RP affects about 2 million people globally.
- Trial name
- NCT03845218
- Where
- United States
- Volunteers
- 49 people
- Sponsor
- National Eye Institute (NEI)
Angelman Syndrome
Study to Evaluate the Efficacy and Safety of Minocycline in Angelman Syndrome
RANDOMIZED CLINICAL TRIAL, PLACEBO COMPARED TO EVALUATE THE EFFICACY AND SAFETY OF MINOCYCLINE IN ANGELMAN SYNDROME (A-MANECE STUDY)
- Trial name
- A-MANECE (NCT02056665)
- Testing
- MINOCYCLINE
- Where
- Spain
- Volunteers
- 32 people
- Sponsor
- Puerta de Hierro University Hospital
Cystic Fibrosis
High Flow Nasal Oxygen for Children With Cystic Fibrosis Presenting With Respiratory Failure - a Randomized Controlled Study
Respiratory exacerbations are frequent among cystic fibrosis patients and supplemental oxygen is usually required. We will compare a new high flow nasal cannula system with Venturi masks for oxygen supplementation to patients…
- Trial name
- HIFLOWCF (NCT01810536)
- Testing
- Hi-flow nasal cannula, Venturi mask
- Where
- Brazil
- Volunteers
- 4 people
- Sponsor
- University of Sao Paulo
Pancreatic Insufficiency, Cystic Fibrosis
Efficacy and Tolerability of NM-BL in Patients With Exocrine Pancreatic Insufficiency Due to Cystic Fibrosis
The purpose of this Randomized, Double-blind, Multicenter, Two-period Crossover Study is to Assess the Efficacy and Tolerability of Burlulipase (NM-BL) in Patients with Exocrine Pancreatic Insufficiency due to Cystic Fibrosis
- Conditions
- Pancreatic Insufficiency, Cystic Fibrosis, Digestive System Diseases, Lung Diseases
- Trial name
- NCT01710644
- Testing
- Burlulipase
- Where
- 9 sites in United States
- Volunteers
- 35 people
- Sponsor
- Nordmark Arzneimittel GmbH & Co. KG
Tuberous Sclerosis Complex
Adjunctive GNX Treatment Compared With Placebo in Children and Adults With TSC-related Epilepsy
This is a Phase 3, global, double-blind, randomized, placebo-controlled study of adjunctive GNX treatment in children and adults with TSC-related epilepsy.
- Trial name
- NCT05323734
- Testing
- Ganaxolone
- Where
- 63 sites in United States, Australia and 8 more
- Volunteers
- 129 people
- Sponsor
- Marinus Pharmaceuticals
Spinal Muscular Atrophy Type I
Study of Safety, Tolerability and Efficacy of GB221 in Infants With Spinal Muscular Atrophy Type 1
GB221 is a gene therapy that delivers a working SMN1 gene to the motor neurons of people with spinal muscular atrophy (SMA) Type 1. This study will evaluate the safety, tolerability and efficacy of GB221 in two groups: 1.
- Trial name
- NCT07070999
- Testing
- GB221
- Where
- Brazil
- Volunteers
- 22 people
- Sponsor
- Gemma Biotherapeutics
Multiple Anomalies, Dysmorphic Features
Evaluating Face-Recognition Technology in Syndrome Diagnosis
Birth defects are relatively common, occurring in 1 in 40 live born babies. They can be single, or multiple. They may occur as part of multiple malformation syndromes, often in association with growth disturbance or intellectual…
- Conditions
- Multiple Anomalies, Dysmorphic Features, Inborn Errors of Metabolism
- Trial name
- NCT04709965
- Testing
- Face2Gene
- Where
- United Kingdom
- Volunteers
- 111 people
- Sponsor
- Manchester University NHS Foundation Trust
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