Clinical trials: Congenital Diseases
Sickle Cell Disease
GBT021601-022: A Study of GBT021601 in Participants With Sickle Cell Disease (SCD)
An Open-label Extension Study of GBT021601 in Participants with Sickle Cell Disease
- Trial name
- NCT05632354
- Testing
- Osivelotor
- Where
- 9 sites in United States, Nigeria
- Volunteers
- 47 people
- Sponsor
- Pfizer
Retinitis Pigmentosa
Acupuncture for the Treatment of Vision Loss Due to Retinitis Pigmentosa
Retinitis Pigmentosa (RP) patients are interested in trying alternative therapies to attempt to slow, halt or reverse the retinal disease process, and claim success with some approaches such as acupuncture, but this potential…
- Trial name
- NCT01604356
- Testing
- Electro-acupuncture
- Where
- United States
- Volunteers
- 19 people
- Sponsor
- Johns Hopkins University
Cystic Fibrosis, Infection, Bacterial
Manuka Honey Sinus Rinse Study
A trial investigating the effect of a sinus rinse in people with CF
- Trial name
- NCT04589897
- Testing
- Manuka honey sinus rinse, Standard sinus rinse
- Where
- United Kingdom
- Volunteers
- 18 people
- Sponsor
- Swansea University
Solid Tumors
Dose Escalation of RMC-4630 Monotherapy in Relapsed/Refractory Solid Tumors
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetic (PK), and pharmacodynamic (PD) profiles of escalating doses of RMC-4630 monotherapy in adult participants with relapsed/refractory solid tumors…
- Trial name
- NCT03634982
- Testing
- RMC-4630
- Where
- 12 sites in United States
- Volunteers
- 133 people
- Sponsor
- Revolution Medicines, Inc.
Neonatal Thrombocytopenia
Impact of Thrombocytopenia and Platelet Transfusions on Neonatal Bleeding and Inflammation
This is a prospective observational study that was designed with the following two Specific Aims: 1. To determine whether the Immature Platelet Fraction percentage (IPF%) and the Immature Platelet Count (IPC) are better…
- Trial name
- NCT03848923
- Where
- 2 sites in United States
- Volunteers
- 160 people
- Sponsor
- Boston Children's Hospital
Hemophilia B
Evaluation of the Safety and Efficacy of Hemophilia B Gene Therapy Drug
This is a multi-center, Phase 1/2/3, single-arm, open-label, single-dose treatment clinical study to evaluate the safety, tolerability and efficacy of BBM-H901 injection in Hemophilia B subjects with ≤2 International unit per…
- Trial name
- NCT05203679
- Testing
- Single dose intravenous injection of BBM-H901
- Where
- 9 sites in China
- Volunteers
- 32 people
- Sponsor
- Shanghai Xinzhi BioMed Co., Ltd.
Mucopolysaccharidosis IVA, Morquio A Syndrome
Safety and Exercise Study of Two Doses of BMN 110 for Morquio A Syndrome
The primary objective of this study was to evaluate the safety of a 2.0 mg/kg/week and a 4.0 mg/kg/week of BMN 110 in patients with Morquio A syndrome for up to 196 weeks.
- Conditions
- Mucopolysaccharidosis IVA, Morquio A Syndrome, MPS IVA
- Trial name
- NCT01609062
- Testing
- BMN 110
- Where
- 11 sites in United States, Canada and 2 more
- Volunteers
- 25 people
- Sponsor
- BioMarin Pharmaceutical
Retinitis Pigmentosa
Computer-Assisted Rehabilitation Environment Training After Argus Retinal Prosthesis
The goal of the current project is to fill the unmet clinical needs around the objective assessment of visual function and develop outcome-oriented visual rehabilitation approach using the computer assisted rehabilitation…
- Trial name
- NCT03444961
- Testing
- CAREN system training
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- The Cleveland Clinic
Fetal Growth Retardation
Non-invasive Placental Chromosome Exploration of Intrauterine Growth Restriction
The objective of this project is the non-invasive prenatal detection of placenta-limited aneuploidies, in patients whose fetuses have a intrauterine growth restriction below 3rd percentile, in parallel with an amniocentesis.
- Trial name
- DPNI-RCIU (NCT05023161)
- Testing
- Blood samples
- Where
- 3 sites in France
- Volunteers
- 300 people
- Sponsor
- University Hospital, Bordeaux
Alpha1-Antitrypsin Deficiency
Study to Learn About the Safety of Fazirsiran and if it Can Help People With Alpha-1 Antitrypsin Liver Disease With Mild Liver Scarring (Fibrosis)
The liver produces a protein called alpha-1 antitrypsin (AAT). AAT is normally released into the bloodstream. In some people, the liver makes an abnormal version of the AAT protein, called Z-AAT.
- Trial name
- NCT06165341
- Testing
- Fazirsiran Injection
- Where
- 41 sites in United States, Austria and 11 more
- Volunteers
- 50 people
- Sponsor
- Takeda
Connective Tissue Disease, Dissecting Aneurysm
Study of Heritable Connective Tissue Disorders
The purposes of this study are to identify the genes responsible for inherited connective tissue disorders and learn about the range of medical problems they cause.
- Conditions
- Connective Tissue Disease, Dissecting Aneurysm, Ehlers Danlos Syndrome, Marfan Syndrome
- Trial name
- NCT00001641
- Where
- United States
- Volunteers
- 900 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Non-Tuberculous Mycobacterial Pneumonia
Cellular Markers in Treated or Untreated Non-tuberculous Mycobacterial Respiratory Infection in Patients With Cystic Fibrosis
This study evaluates a diagnostic serological test for Non-Tuberculous Mycobacteria (NTM) infection in cystic fibrosis patients by measuring T cell response.
- Trial name
- MUCEM (NCT06602869)
- Testing
- Scheduled visit (V1)
- Where
- France
- Volunteers
- 76 people
- Sponsor
- University Hospital, Montpellier
Sickle Cell Disease, Hb-SS Disease With Vasoocclusive Pain
Abciximab (ReoPro) as a Therapeutic Intervention for Sickle Cell Vaso-Occlusive Pain Crisis
The purpose of this study is to determine whether giving abciximab (ReoPro) to children with sickle cell disease who are hospitalized for acute pain crisis will improve their pain and shorten the time spent in the hospital, when…
- Conditions
- Sickle Cell Disease, Hb-SS Disease With Vasoocclusive Pain, Hemoglobin SS Disease With Vasoocclusive Crisis, Other Sickle Cell Disease With Vaso-Occlusive Pain
- Trial name
- NCT01932554
- Testing
- Abciximab, Intravenous hydration, Ibuprofen
- Where
- United States
- Sponsor
- St. Louis University
Spinocerebellar Degeneration
A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
The purpose of this study is to evaluate the long-term safety, efficacy, and pharmacokinetics of KPS-0373 in SCD patients
- Trial name
- NCT01970124
- Testing
- KPS-0373, High dose, KPS-0373, Low dose
- Where
- Japan
- Sponsor
- Kissei Pharmaceutical Co., Ltd.
Facioscapulohumeral Muscular Dystrophy (FSHD)
Safety, Tolerability, Pharmacokinetics, and Biological Activity of ATYR1940 in Adult Participants With Muscular Dystrophy
The purpose of this study is to assess the safety and tolerability profile of ATYR1940 in the treatment of adult participants with molecularly defined genetic muscular dystrophies
- Trial name
- NCT02239224
- Testing
- ATYR1940
- Where
- 5 sites in United States, France and 2 more
- Volunteers
- 20 people
- Sponsor
- aTyr Pharma, Inc.
Amyloidosis
The Study of an Investigational Drug, Patisiran (ALN-TTR02), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis in Participants Who Have Already Been Treated With ALN-TTR02 (Patisiran)
The purpose of this study is to evaluate the safety and efficacy of long-term dosing with ALN-TTR02 (patisiran) in participants with transthyretin (TTR) mediated amyloidosis (ATTR).
- Trial name
- NCT02510261
- Testing
- Patisiran
- Where
- 56 sites in United States, Argentina and 19 more
- Volunteers
- 211 people
- Sponsor
- Alnylam Pharmaceuticals
Pseudohermaphroditism
Mutation Analysis of 17βhydroxysteroid Dehydrogenase 3 Deficiency
To disclose the molecular pathology of our 3 families with 17βHSD3 deficiency.
- Trial name
- NCT00173654
- Testing
- blood drawing
- Where
- Taiwan
- Volunteers
- 20 people
- Sponsor
- National Taiwan University Hospital
Congenital Hepatic Fibrosis and Autosomal Recessive Polycystic Kidney Disease in Children at Sohag University Hospital
Congenital Hepatic Fibrosis and Autosomal Recessive Polycystic Kidney Disease in Children at Sohag University Hospital
polycystic kidney disease is aherditary disorder characterized by the formation of numerous fluid filled cysts in the kidneys which can lead to progressive renal impairment PKDencompasses aspectrum of disorders with autosomal…
- Trial name
- NCT06601829
- Testing
- abdominal ultrasound
- Where
- Egypt
- Volunteers
- 30 people
- Sponsor
- Sohag University
Malocclusion, Abnormalities, Jaw
Personalized Titanium Plates vs CAD/CAM Surgical Splints in Maxillary Repositioning of Orthognathic Surgery
The purpose of this study is to determine whether personalized titanium plates can achieve better accuracy than CAD/CAM surgical splint in maxilla repositioning in orthognathic surgery, and evaluate the feasibility of this…
- Trial name
- NCT02914431
- Testing
- 3D Printing Personalized Titanium Plate
- Where
- China
- Volunteers
- 64 people
- Sponsor
- Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong University
Atopic Dermatitis, Eczema
The Role of Bathing Additives in the Treatment of Pediatric Atopic Dermatitis
To evaluate the efficacy of water bath, water + bleach, and water + vinegar (acetic acid) in the treatment of atopic dermatitis (eczema)
- Trial name
- ASPIRE (NCT03775590)
- Testing
- Water, Bleach, Acetic acid
- Where
- 2 sites in United States
- Volunteers
- 5 people
- Sponsor
- Mayo Clinic
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