Clinical trials: Genetics
Gaucher Disease, Type 1
Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to the deficiency of functional GCB, glucocerebroside accumulates within macrophages leading to cellular…
- Trial name
- NCT00553631
- Testing
- velaglucerase alfa, imiglucerase
- Where
- 11 sites in United States, Argentina and 7 more
- Volunteers
- 34 people
- Sponsor
- Shire
Atopic Dermatitis
Indigo Naturalis in Treating Atopic Dermatitis Topically
Atopic dermatitis (AD) is a chronic inflammatory skin disorder that most commonly occurs in children. The aims of this project are: 1. To evaluate the efficacy of indigo naturalis ointment in treating AD topically; 2.
- Trial name
- NCT02669888
- Testing
- Indigo naturalis ointment
- Where
- 3 sites in Taiwan
- Volunteers
- 48 people
- Sponsor
- Chang Gung Memorial Hospital
Hemophilia A
A Study to Test a Medicine (Fitusiran) for Preventing Bleeds in People With Severe Hemophilia Who Previously Received Preventive Treatment With Emicizumab
This is an exploratory, single group, Phase 4, study to assess treatment with fitusiran prophylaxis after switching from emicizumab prophylaxis.
- Trial name
- NCT06145373
- Testing
- Fitusiran (SAR439774), Clotting factor concentrates (CFC) or bypassing agents (BPA), Antithrombin concentrate (ATIIIC)
- Where
- 3 sites in United States, Taiwan
- Volunteers
- 20 people
- Sponsor
- Sanofi
Hunter Syndrome
An Extension Study of HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Idursulfase-IT in Conjunction With Elaprase in Pediatric Participants With Hunter Syndrome and Cognitive Impairment
This extension study of HGT-HIT-045 is designed to collect long-term safety data in pediatric participants with Hunter syndrome and cognitive impairment who are receiving intrathecal (IT) idursulfase-IT and intravenous (IV)…
- Trial name
- NCT01506141
- Testing
- Idursulfase-IT, Elaprase
- Where
- 9 sites in United States, Canada and 1 more
- Volunteers
- 15 people
- Sponsor
- Takeda
Atopic Dermatitis
An Observational Study to Assess Change in Disease Activity and Use of Upadacitinib Tablets in Adolescent and Adult Participants With Moderate to Severe Atopic Dermatitis in Real World
Atopic dermatitis (AD) is a skin condition that may cause a rash and itching due to inflammation of the skin. This study will assess how effective upadacitinib is in treating AD. Upadacitinib is an approved drug for treating AD.
- Trial name
- UPDATE (NCT05669794)
- Where
- 59 sites in France
- Volunteers
- 300 people
- Sponsor
- AbbVie
Congenital Bleeding Disorder, Haemophilia A
Safety and Efficacy of Turoctocog Alfa in Haemophilia A Subjects
This trial is conducted in Asia, Europe, and North and South America. The trial consists of a main trial and a sub-trial. The main trial investigates safety and efficacy of turoctocog alfa (recombinant factor VIII, rFVIII (N8))…
- Trial name
- guardian™1 (NCT00840086)
- Testing
- turoctocog alfa
- Where
- 63 sites in United States, Brazil and 16 more
- Volunteers
- 150 people
- Sponsor
- Novo Nordisk A/S
Mucopolysaccharidosis I, Mucopolysaccharidosis II
Clinical Trial of Growth Hormone in MPS I, II, and VI
The purpose of this study is to determine whether growth hormone is a safe and effective treatment for short stature in children with Mucopolysaccharidosis type I, II, and VI.
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis VI
- Trial name
- NCT00748969
- Testing
- Somatropin (DNA origin)
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Hemophilia B with Inhibitor, Hemophilia B
A Study of SerpinPC in Participants with Hemophilia B (HemB) with Inhibitors
The purpose of the study is to evaluate the efficacy, safety, tolerability and pharmacokinetic (PK) profile of prophylactic SerpinPC in participants with Hemophilia B with inhibitors, as part of the SerpinPC registrational…
- Trial name
- PRESent-3 (NCT05789537)
- Testing
- SerpinPC
- Where
- 20 sites in United States, Armenia and 9 more
- Volunteers
- 3 people
- Sponsor
- ApcinteX Ltd
CLN3, Batten Disease
Gene Therapy for Children With CLN3 Batten Disease
This is a phase 1/2, open-label, single dose, dose-escalation clinical trial to evaluate the safety and efficacy of CLN-301 (previous NCH Code: scAAV9.P546.CLN3) delivered intrathecally into the lumbar spinal cord region of…
- Trial name
- NCT03770572
- Testing
- Low dose CLN-301, High dose CLN-301
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Neela Therapeutics
Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease
Long-term Follow-up (LTFU) Study of Participants in Any iECURE Protocol Using an Investigational Product (IP)
This LTFU is being conducted to assess long-term safety and durability of response in participants dosed with IP in a parent protocol, and to collect longitudinal natural history in enrolled but not dosed participants who also…
- Conditions
- Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease, Urea Cycle Disorders, Inborn
- Trial name
- NCT06805695
- Testing
- No Intervention
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 13 people
- Sponsor
- iECURE, Inc.
Tourette Syndrome, Tic Disorder, Chronic Motor or Vocal
Open-label MNS for Tourette Syndrome
A recent report (Morera Maiquez et al 2020) described reduced tic severity in people with Tourette syndrome during 1-minute epochs of median nerve stimulation (MNS) at 10 Hz.
- Trial name
- NCT05016765
- Testing
- Active, self-directed electrical stimulation of the median nerve
- Where
- United States
- Volunteers
- 31 people
- Sponsor
- Washington University School of Medicine
Afibrinogenemia, Congenital
Quality of Life in Patients With Congenital Afibrinogenemia
The aim of this observational study is to evaluate the quality of life in patients with congenital afibrinogenemia using the Haemo-QoL SF for kids and the Haem-A-QoL for adult patients.
- Trial name
- QualyAFIB (NCT03484065)
- Testing
- Questionnaire quality of life
- Where
- 28 sites in United States, Algeria and 19 more
- Volunteers
- 250 people
- Sponsor
- University Hospital, Geneva
Atopic Dermatitis
Insulin Resistance in Atopic Dermatitis Patients
The aim of the study is to determine the relationship between insulin resistance and disease duration and severity of atopic dermatitis.
- Trial name
- NCT05904509
- Where
- Turkey (Türkiye)
- Volunteers
- 32 people
- Sponsor
- Bezmialem Vakif University
Aplasia Cutis Congenita
Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)
The goal of this research study is to identify genes and regulatory elements on chromosomes that cause ACC. The investigators also study tissue samples from patients to learn about the processes that lead to this disorder.
- Trial name
- ACC (NCT01630421)
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- UConn Health
Sickle Cell Disease, Thalassemia
Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells
This is a clinical trial of bone marrow transplantation for patients with the diagnosis of a genetic disease of blood cells that do not have an HLA-matched sibling donor.
- Conditions
- Sickle Cell Disease, Thalassemia, Anemia, Granuloma
- Trial name
- NCT00730314
- Testing
- Hematopoietic stem cell transplantation
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Children's Hospital Los Angeles
Sickle Cell Disease
Hydroxyurea Adherence for Personal Best in Sickle Cell Disease (HABIT): Efficacy Trial
Many youth with chronic disease have difficulty taking medication every day and therefore do not receive full benefit from treatment.
- Trial name
- NCT03462511
- Testing
- HABIT Intervention, Standard of Care, Education materials
- Where
- 4 sites in United States
- Volunteers
- 50 people
- Sponsor
- Columbia University
Wilson Disease
Description of Renal Involvement in Wilson's Disease
Wilson's disease (WD) is a rare genetic disorder that leads to copper accumulation in various tissues, including the liver, nervous system, heart, and kidneys.
- Trial name
- WILKID (NCT07075393)
- Testing
- full renal workup
- Where
- France
- Volunteers
- 150 people
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
Osteosarcoma, Ewing Sarcoma
Neoadjuvant Dual Checkpoint Inhibition and Cryoablation in Relapsed/Refractory Pediatric Solid Tumors
The is a phase II, single arm, open-label, multi-site trial studying the combination of cryoablation therapy and dual checkpoint inhibition with nivolumab (anti-PD-1) and ipilimumab (anti-CTLA-4) given at the recommended phase 2…
- Conditions
- Osteosarcoma, Ewing Sarcoma, Rhabdomyosarcoma, Relapsed Pediatric Solid Tumor
- Trial name
- NCT05302921
- Testing
- Cryoablation Therapy, Nivolumab, Ipilimumab
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Children's National Research Institute
Duchenne Muscular Dystrophy (DMD)
A Study to Evaluate the Safety and Tolerability of RAG-18 in Pediatric Patients With Duchenne Muscular Dystrophy
This is an open-label, single-arm, dose-escalation trial to evaluate the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD), and preliminary efficacy of RAG-18 in pediatric patients with Duchenne Muscular…
- Trial name
- NCT07282652
- Testing
- RAG-18
- Where
- China
- Volunteers
- 12 people
- Sponsor
- Peking Union Medical College Hospital
Muscular Dystrophies, Muscular Dystrophy, Duchenne
A Study of Deramiocel (CAP-1002) in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
HOPE-3 is a two cohort, Phase 3, multi-center, randomized, double-blind, placebo-controlled clinical trial evaluating the efficacy and safety of a cell therapy called deramiocel (CAP-1002) in study participants with Duchenne…
- Conditions
- Muscular Dystrophies, Muscular Dystrophy, Duchenne, Muscular Disorders, Atrophic, Muscular Diseases
- Trial name
- HOPE-3 (NCT05126758)
- Testing
- Deramiocel (CAP-1002)
- Where
- 20 sites in United States
- Volunteers
- 106 people
- Sponsor
- Capricor Inc.
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