Clinical trials: Genetic Condition
Hereditary Angioedema
Long-term Safety and Efficacy of CSL312 (Garadacimab) in the Prophylactic Treatment of Hereditary Angioedema Attacks
This phase 3b study will evaluate long-term safety and efficacy of CSL312 (also known as garadacimab) when administered subcutaneously (SC)
- Trial name
- NCT04739059
- Testing
- CSL312
- Where
- 44 sites in United States, Australia and 12 more
- Volunteers
- 171 people
- Sponsor
- CSL Behring
Sickle Cell Disease
Safety Evaluation of DREPADOM - Home Care Services and Hospitalizations for Sickle Cell Disease Patients
The objective of this study is to evaluate the incidence of ACS within the DREPADOM system and compare it to expected incidences of ACS (historic cohorts of PRESEV1 and PRESEV2)
- Trial name
- DREPADOM (NCT05649280)
- Where
- France
- Volunteers
- 100 people
- Sponsor
- Soutien aux Actions contre les Maladies du Globule Rouge
Leigh Syndrome
Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome
EPI-743 in Leigh syndrome participants that participated in previous EPI743-12-002 (NCT01721733) study.
- Trial name
- NCT02352896
- Testing
- EPI-743
- Where
- 4 sites in United States
- Volunteers
- 30 people
- Sponsor
- PTC Therapeutics
Fabry Disease
Home Therapy With Replagal in Fabry Disease
The purpose of this study is to proof increasing patient satisfaction and preservation of quality of life in patients with Morbus Fabry disease receiving their Enzyme Replacement Therapy with Replagal (Agalsidase alfa) at home…
- Trial name
- NCT01355146
- Where
- 22 sites in Austria, Germany
- Volunteers
- 127 people
- Sponsor
- Shire
Cystinuria
Cystine Capacity Clinical Study (CysCap)
The purpose of this study is to determine whether urinary cystine capacity, an assay used to measure the amount of cystine in the urine, can be used to predict stone recurrence in patients with cystinuria.
- Trial name
- NCT02120105
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- NYU Langone Health
Pulmonary Hypertension, Sickle Cell Disease
Glutamine Therapy for Hemolysis-Associated Pulmonary Hypertension
The primary hypothesis of this study is that glutamine supplementation will improve the erythrocyte glutamine/glutamate ratio, a biomarker of oxidative stress, hemolysis and pulmonary hypertension (PH) in sickle cell disease…
- Conditions
- Pulmonary Hypertension, Sickle Cell Disease, Thalassemia
- Trial name
- NCT01048905
- Testing
- L-Glutamine
- Where
- United States
- Volunteers
- 13 people, healthy volunteers welcome
- Sponsor
- UCSF Benioff Children's Hospital Oakland
Visual Acuity at Near, Accuracy of Accommodation
The Effect of Bifocals in Children With Down Syndrome
Visual acuity at near improves in children with Down syndrome using bifocals
- Conditions
- Visual Acuity at Near, Accuracy of Accommodation, Prevention of Strabismus, Task Readiness
- Trial name
- NCT02241356
- Testing
- bifocals, single vision glasses
- Where
- Netherlands
- Volunteers
- 120 people
- Sponsor
- Radboud University Medical Center
Fanconi's Anemia
Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi's Anemia
OBJECTIVES: I. Evaluate the toxicity of amifostine in patients with bone marrow failure related to Fanconi's anemia. II. Determine the efficacy of this treatment regimen in this patient population. III.
- Trial name
- NCT00006127
- Testing
- amifostine
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- Dana-Farber Cancer Institute
Balance, Duchenne Muscular Dystrophy
The Effect of Kinesiology Taping on Balance in Duchenne Muscular Dystrophy
Investigators investigated that the effects of kinesilogy taping on balance in patients with Duchenne Muscular Dystrophy
- Trial name
- NCT03541070
- Testing
- Kinesiology tape
- Where
- Turkey (Türkiye)
- Volunteers
- 45 people
- Sponsor
- Hacettepe University
Duchenne Muscular Dystrophy
Safety, Tolerability, and Pharmacokinetics of Single and Multiple Doses of HT-100 in Duchenne Muscular Dystrophy
The main purpose of this study is to test the safety and tolerability of different, increasing doses of an experimental medication called HT-100 in boys and young men with Duchenne muscular dystrophy (DMD).
- Trial name
- NCT01847573
- Testing
- HT-100
- Where
- 5 sites in United States
- Volunteers
- 17 people
- Sponsor
- Processa Pharmaceuticals
Sickle Cell Disease
Development and Adaptation of I-STRONG for SCD
This study develops and tests the feasibility and acceptability of an adapted intervention, Integrative Strong Body and Mind Training (I-STRONG), in adolescents with pain from sickle cell disease.
- Trial name
- NCT06110754
- Testing
- I-STRONG for SCD
- Where
- 2 sites in United States
- Volunteers
- 45 people
- Sponsor
- Emory University
Down Syndrome
Effect Of Brain Gym Exercises On Postural Stability In Children With Down Syndrome
This study will be conducted to detect the effect of brain gym exercises on postural stability in children with down syndrome .
- Trial name
- NCT05769556
- Testing
- Brain Gym Exercises, Traditional physiotherapy
- Where
- Egypt
- Volunteers
- 32 people
- Sponsor
- Aliaa Altohamy Goda
Progressive Familial Intrahepatic Cholestasis, Alagille Syndrome
A Study to Evaluate the Safety and Tolerability of Maralixibat in Infant Participants With Cholestatic Liver Diseases Including Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille Syndrome (ALGS).
This study is designed to assess whether the investigational drug maralixibat, is safe and well tolerated in children <12 months of age with Alagille Syndrome [ALGS] or Progressive Familial Intrahepatic Cholestasis [PFIC].
- Conditions
- Progressive Familial Intrahepatic Cholestasis, Alagille Syndrome, Cholestatic Liver Disease
- Trial name
- RISE (NCT04729751)
- Testing
- Maralixibat
- Where
- 14 sites in United States, Belgium and 5 more
- Volunteers
- 27 people
- Sponsor
- Mirum Pharmaceuticals, Inc.
Sickle Cell Disease, Sickle Cell Hemoglobin C
Home-based Assessment of PRO Measures in SCD Using A Smartphone App Platform: A Feasibility Study
The overarching goal of this proposal is to identify modifiable behavioral strategies based on patient-reported outcomes (PROs) and health-related quality of life (HRQOL) that will improve hydroxyurea (HU) adherence among…
- Conditions
- Sickle Cell Disease, Sickle Cell Hemoglobin C, Sickle Beta Zero Thalassemia, Sickle B+ Thalassemia
- Trial name
- NCT04678037
- Testing
- PROs assessment using sickle cell disease mobile app (SCD-app)
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Ann & Robert H Lurie Children's Hospital of Chicago
Duchenne Muscular Dystrophy (DMD)
E-monitoring of PULMonary Function in Patients With Duchenne Muscular Dystrophy at Home"
Duchenne muscular dystrophy (DMD) is the most common, progressive, irreversible muscular dystrophy. The pulmonary function is crucial for the duration of life in this disease.
- Trial name
- E-PULMoDMD (NCT05516745)
- Testing
- AioCare spirometer, telerehabiliation of the respiratory system
- Where
- Poland
- Volunteers
- 200 people
- Sponsor
- Medical University of Gdansk
Sickle Cell Disease
Peripheral Blood Stem Cell Collection From Patients With Sickle Cell Disease (SCD) Using Plerixafor
With recent advances in gene editing, gene therapy is becoming a viable curative treatment option for sickle cell disease. In order to do genetic manipulation, investigators need to collect hematopoietic stem cells from patients…
- Trial name
- NCT04817345
- Testing
- Plerixafor
- Sponsor
- St. Jude Children's Research Hospital
Retinoblastoma
Proton Beam Radiation Therapy for Intraocular and Periocular Retinoblastoma
The purpose of this trial is to evaluate proton beam radiation therapy as an alternative to external photon beam irradiation in children with retinoblastoma as a means of local tumor control and ocular retention.
- Trial name
- NCT00432445
- Testing
- Proton Beam Radiation Therapy, Ophthalmic EUA
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- M.D. Anderson Cancer Center
Sickle Cell Disease, Asthma
Inhaled Corticosteroid Use to Prevent Acute Chest Syndrome Recurrence in Children Between 1 and 4 With Sickle Cell Disease: a Feasibility Trial
Acute and chronic pulmonary complications with concomitant inflammatory response are a leading cause of morbidity and mortality in children with sickle cell disease (SCD).
- Conditions
- Sickle Cell Disease, Asthma, Acute Chest Syndrome
- Trial name
- NCT02187445
- Testing
- Budesonide inhalation suspension
- Where
- United States
- Volunteers
- 36 people
- Sponsor
- Vanderbilt University
IBS - Irritable Bowel Syndrome
The Prevalence of Irritable Bowel Syndrome Using Rome IV Criteria in Medical Student and The Related Factors
A cross-sectional study of 350 medical student Universitas Indonesia from first grade until fifth grade was done during November-December 2016. This study used stratified randomized sampling.
- Trial name
- IBS (NCT03178877)
- Testing
- No intervention
- Where
- Indonesia
- Volunteers
- 350 people, healthy volunteers welcome
- Sponsor
- Universitas Indonesia
Cystinosis
European Cystinosis Cohort
Cystinosis is a generalized lysosomal storage disease with a reported incidence of about 1:180,000 live births. There are estimated 110-140 cases in France (approximately 500 in Western Europe).
- Trial name
- RaDiCo-ECYSCO (NCT05901077)
- Where
- France
- Volunteers
- 400 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
The first 1,020 results can be paged through. Add a filter or change the sort order to reach the rest.