Clinical trials: Genetic Diseases
Atopic Dermatitis
Safety and Bioequivalence of Pimecrolimus Cream 1% and Elidel R in Treatment of Mild to Moderate Atopic Dermatitis
A phase 3, double-blind, randomized, parallel-group, placebo-controlled, multicenter study to evaluate the safety and bioequivalence of Par Pharmaceutical Inc.'s Pimecrolimus Cream, 1% and Reference Listed Elidel® (Pimecrolimus…
- Trial name
- NCT03297502
- Testing
- pimecrolimus cream 1%, Elidel (pimecrolimus) cream 1%
- Volunteers
- 582 people
- Sponsor
- Par Pharmaceutical, Inc.
Junctional Epidermolysis Bullosa
Clinical Trial to Assess Safety and Efficacy of Autologous Cultured Epidermal Grafts Containing Epidermal Stem Cells Genetically Modified in Patients With JEB (HOLOGENE17)
Prospective open-label, uncontrolled clinical study to assess the safety and efficacy of autologous cultured epidermal grafts containing epidermal stem cells genetically modified with the aid of a gamma-retroviral vector carrying…
- Trial name
- HOLOGENE17 (NCT03490331)
- Testing
- Transplantation surgery of genetically corrected cultured epidermal autograft (ATMP)
- Where
- Austria
- Volunteers
- 1 people
- Sponsor
- Holostem s.r.l.
Duchenne Muscular Dystrophy
HT-100 Long-term Study in DMD Patients Who Completed HALO-DMD-02
This study, HALO-DMD-03, is a follow-on study to HALO-DMD-01 and HALO-DMD-02, and allows continued open-label access to HT-100 for subjects who have completed these studies.
- Trial name
- NCT02525302
- Testing
- HT-100
- Where
- 5 sites in United States
- Volunteers
- 10 people
- Sponsor
- Akashi Therapeutics
Hemophilia A
Evaluation of Patient and Physician Reported Reasons for Switching Factor VIII Replacement Therapies
This US study will assess hemophilia A patient characteristics, health history and reasons for switching or not switching from both patient/caregiver and physician perspectives.
- Trial name
- PARkER (NCT03405337)
- Testing
- FVIII products, Conventional FVIII replacement therapies
- Where
- United States
- Volunteers
- 160 people
- Sponsor
- Bayer
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
Von Willebrand Disease (VWD), Von Willebrand Disease (VWD), Type 1
A Study of Bleeding and Treatment in Participants With Von Willebrand Disease
The purpose of this screening study is to accumulate information regarding bleeding events, quality of life, and the social and clinical impact of bleeds in participants with Von Willebrand Disease (VWD).
- Conditions
- Von Willebrand Disease (VWD), Von Willebrand Disease (VWD), Type 1, Von Willebrand Disease (VWD), Type 2, Von Willebrand Disease (VWD), Type 3
- Trial name
- NCT06610201
- Testing
- Clinical outcomes of patients with VWD, Type 1, Clinical outcomes of patients with VWD, Type 2A, Type 2M, Type 2N, or Type 3
- Where
- 17 sites in United States, Australia and 1 more
- Volunteers
- 200 people
- Sponsor
- Hemab ApS
Down Syndrome
Inspiratory Muscle Training and Physical Fitness in Children With Down Syndrome Randomized Control Trial
The purpose of this study is to investigate the effect of inspiratory muscle training on physical fitness in Down syndrome children.
- Trial name
- NCT04767412
- Testing
- aerobic exercise training, inspiratory muscle training
- Where
- Egypt
- Volunteers
- 40 people
- Sponsor
- Cairo University
Vestibular Schwannoma, Inner Ear Disease
Vestibular Precision: Physiology & Pathophysiology
This project will investigate the role of noise in the vestibular system, and in particular its effects on the variability (precision) of vestibular-mediated behaviors.
- Conditions
- Vestibular Schwannoma, Inner Ear Disease, Dizziness, Neurofibromatosis 2
- Trial name
- NCT04890132
- Testing
- VOR precision training
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Massachusetts Eye and Ear Infirmary
Spina Bifida, Cerebral Palsy
Grand Valley State University (GVSU) Skills on Wheels
Manual wheelchairs (MWCs) are widely used by children with physical disabilities, yet many of these children are unable to use their wheelchair independently. Instead, they depend on others to push them.
- Conditions
- Spina Bifida, Cerebral Palsy, Genetic Disease, Spinal Cord Injuries
- Trial name
- NCT05339932
- Testing
- Manual Wheelchair Skills Training
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Grand Valley State University
Liver Diseases, Alagille Syndrome
Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis (LOGIC)
Cholestasis is a condition in which bile is not properly transported from the liver to the small intestine. Cholestasis can be caused by an array of childhood diseases, including the genetic diseases Alagille syndrome (ALGS)…
- Conditions
- Liver Diseases, Alagille Syndrome, Alpha 1-Antitrypsin Deficiency
- Trial name
- LOGIC (NCT00571272)
- Where
- 17 sites in United States, Canada
- Volunteers
- 1,675 people
- Sponsor
- Arbor Research Collaborative for Health
Genetic Conditions, Genetic Disorders
RNA to the RESCUE: Evaluation to Assess the Clinical Utility of RNA Sequencing in Establishing a Genetic Diagnosis or Adjudicating a Previously Established Genetic Diagnosis.
The goal of this observational study is to see if ribonucleic acid (RNA) sequencing can improve the diagnostic yield and accuracy of genetic testing compared to gene sequencing alone.
- Trial name
- NCT07787975
- Testing
- RNA sequencing
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- University of California, San Francisco
Learning Disabilities
Action Medical Research
Learning disability affects 3% of the population. Severe types of learning disability are more likely to have an underlying genetic cause but diagnosis is difficult because many different genetic abnormalities may be involved.
- Trial name
- NCT02227381
- Where
- United Kingdom
- Volunteers
- 119 people
- Sponsor
- Manchester University NHS Foundation Trust
Cystic Fibrosis
Antibiotic Treatment Of Staphylococcus Aureus In Stable People With CF
This is a randomized, double-blinded study that aims to assess the effect of an oral antibiotic called Cephalexin (150 mg/kg/day) compared to placebo in clinically stable children with cystic fibrosis who have grown a bacteria…
- Trial name
- ASAP-CF (NCT04553419)
- Testing
- Cephalexin
- Where
- 2 sites in Canada
- Volunteers
- 86 people
- Sponsor
- University of British Columbia
Atopic Dermatitis, Eczema
Effects of an Emollient Containing Postbiotic Saccharomyces and Lactobacillus on Pediatric Atopic Dermatitis
The goal of this study is to investigate whether the use of emollients containing postbiotic Saccharomyces and Lactobacillus can significantly reduce the risk of atopic dermatitis (AD) recurrence in pediatric patients aged 0-6…
- Conditions
- Atopic Dermatitis, Eczema, Emollient
- Trial name
- NCT06474728
- Testing
- Treatment with an Emollient Containing Postbiotic Saccharomyces and Lactobacillus
- Where
- China
- Volunteers
- 98 people
- Sponsor
- Children's Hospital of Fudan University
Fanconi's Anemia, Myelodysplastic Syndromes
Study of Allogeneic Bone Marrow Transplantation Following Cyclophosphamide and Radiotherapy in Patients With Myelodysplastic Syndrome and Acute Leukemia Related to Fanconi's Anemia
OBJECTIVES: I. Determine the effectiveness of moderate dose cyclophosphamide and radiotherapy in terms of improving survival and reducing the morbidity following allogeneic bone marrow transplantation in patients with…
- Conditions
- Fanconi's Anemia, Myelodysplastic Syndromes, Leukemia, Nonlymphocytic, Acute, Leukemia, Lymphocytic, Acute
- Trial name
- NCT00005892
- Testing
- cyclophosphamide, Allogeneic Bone Marrow Transplantation
- Where
- United States
- Sponsor
- Fairview University Medical Center
ADNP, Helsmoortel-Van Der Aa Syndrome
ADNP Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing ADNP-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
ADNP, also known as Activity Dependent Neuroprotective Protein, is a rare neurodevelopmental disorder caused by mutations encompassing the ADNP gene on chromosome 20.
- Conditions
- ADNP, Helsmoortel-Van Der Aa Syndrome, Autism Spectrum Disorder
- Trial name
- NCT03718936
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Obesity, Genetic Obesity
EMANATE: A Study of Setmelanotide in Patients With Specific Gene Variants in the MC4R Pathway
The protocol describes a randomized, double-blind, placebo-controlled trial with independent sub-studies of setmelanotide in patients with obesity and at least one of the specific gene variants in the Melanocortin-4 Receptor…
- Trial name
- NCT05093634
- Testing
- Setmelanotide
- Where
- 56 sites in United States, Canada and 8 more
- Volunteers
- 296 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Niemann-Pick Type C Disease, GM1 Gangliosidosis
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease, GM1 Gangliosidosis or GM2 Gangliosidosis
An 18-month double-blind, randomized, placebo-controlled, multicenter, Phase 3 study to evaluate the safety and efficacy of oral nizubaglustat (AZ-3102) in late-infantile and juvenile forms of Niemann-Pick type C disease and in…
- Conditions
- Niemann-Pick Type C Disease, GM1 Gangliosidosis, GM2 Gangliosidosis
- Trial name
- NCT07054515
- Testing
- AZ-3102
- Where
- 39 sites in United States, Argentina and 15 more
- Volunteers
- 147 people
- Sponsor
- Azafaros B.V.
Hemophilia A
Evaluation of SCT800 in Prophylaxis Therapy on Previous Treated Patients With Severe Hemophilia A
This study is a multi-center, open-label, single-arm trial to evaluate the efficacy,safety and pharmacokinetics of SCT800 in regular prophylaxis and perioperative treatment in patients (≥12 years old) with severe hemophilia A who…
- Trial name
- NCT03815318
- Testing
- Recombinant Human Coagulation FVIII
- Where
- China
- Volunteers
- 73 people
- Sponsor
- Sinocelltech Ltd.
Newborn Screening
Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project
The main objective of the genetic newborn screening part of the Screen4Care-project is to shorten the path to rare disease diagnosis and to facilitate early intervention.
- Trial name
- SCREEN4CARE (NCT06549218)
- Testing
- newborn genetic screening and whole genome sequencing
- Where
- 8 sites in France, Germany and 1 more
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- University Hospital Freiburg
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