Clinical trials: Inherited Genetic Conditions (Diagnosis)
Prader-Willi Syndrome, Hyperphagia
Oxytocin vs. Placebo for the Treatment Hyperphagia in Children and Adolescents With Prader-Willi Syndrome
The investigators propose a randomized double-blind 8 week treatment trial of intranasal oxytocin (IN-OXT) vs. placebo in 24 subjects aged 5 to 18 years with PWS in order to assess IN-OXT's affect on (1) Eating behaviors (2)…
- Trial name
- OXT-PWS (NCT02629991)
- Testing
- Intranasal Oxytocin (IN-OXT)
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Montefiore Medical Center
Abnormalities, Blood Coagulation Disorder
Study of Abnormal Blood Clotting in Children With Stroke
Effective treatment and prevention strategies for childhood stroke and porencephaly can only be developed once the causes are understood.
- Conditions
- Abnormalities, Blood Coagulation Disorder, Brain Disease, Cerebrovascular Accident
- Trial name
- NCT00001927
- Where
- United States
- Volunteers
- 130 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Colorectal Cancer, Precancerous Condition
Celecoxib in Preventing Colorectal Cancer in Young Patients With a Genetic Predisposition for Familial Adenomatous Polyposis
RATIONALE: Chemoprevention is the use of certain drugs to keep cancer from forming. The use of celecoxib may keep polyps and colorectal cancer from forming in patients with familial adenomatous polyposis.
- Trial name
- NCT00685568
- Testing
- celecoxib
- Where
- 4 sites in United States
- Volunteers
- 22 people
- Sponsor
- M.D. Anderson Cancer Center
Unverricht-Lundborg Disease
Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease in Adolescents and Adults
The study will compare the efficacy and safety of brivaracetam with placebo in patients with Unverricht-Lundborg disease.
- Trial name
- NCT00357669
- Testing
- Brivaracetam 25 mg, Brivaracetam 50 mg
- Where
- 13 sites in Finland, France and 5 more
- Volunteers
- 50 people
- Sponsor
- UCB Pharma SA
Fabry Disease, Chronic Kidney Disease, Stage IV (Severe)
Severe Renal Disease Study in Fabry Patients Treated With Fabrazyme
This study was designed to determine appropriate treatment with Fabrazyme at a biweekly dose of either 1 mg/kg or 3 mg/kg in a population of patients with severe renal disease burden.
- Trial name
- NCT00837824
- Testing
- Fabrazyme (agalsidase beta)
- Where
- 9 sites in United States
- Volunteers
- 20 people
- Sponsor
- Genzyme, a Sanofi Company
Prader-Willi Syndrome
Study of Tesomet With Open-label Extension in Subjects With Prader-Willi Syndrome
This study will evaluate the safety and efficacy of Tesomet (tesofensine + metoprolol) in subjects with PWS.
- Trial name
- PWS (NCT05198362)
- Testing
- Tesomet
- Where
- United States
- Sponsor
- Saniona
Duchenne Muscular Dystrophy
Tele-assessment of Functional Performance and Quality of Life in Patients With Duchenne Muscular Dystrophy: Validity and Reliability Study
Thanks to tele-assessment methods, it may be possible to evaluate DMD patients without traveling to clinical centers. In recent years, the applicability of remote assessment methods in DMD patients, as in many populations, is…
- Trial name
- NCT06295718
- Where
- Turkey (Türkiye)
- Volunteers
- 20 people
- Sponsor
- Sahra Şirvan
Multiple Osteochondroma, Osteogenesis Imperfecta
Resilience and Coping in a Rare Skeletal Disease Population to Face Coronavirus (COVID-19) Outbreak Distress: a Longitudinal Study
In the COVID-19 outbreak context, people living with rare diseases have been highly troubled with anxiety, loneliness, and depression.
- Conditions
- Multiple Osteochondroma, Osteogenesis Imperfecta, Ollier Disease, Maffucci Syndrome
- Trial name
- RELOAD (NCT04844697)
- Where
- Italy
- Volunteers
- 15 people
- Sponsor
- Istituto Ortopedico Rizzoli
Smith-Magenis Syndrome (SMS)
Natural History Study of Smith-Magenis Syndrome
This study will examine how a rare disease called Smith-Magenis syndrome (SMS) affects people and how they change over time. SMS is caused by a small chromosome 17p11.2 deletion (missing piece).
- Trial name
- NCT00013559
- Where
- United States
- Volunteers
- 593 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Anemia, Sickle Cell, Sickle Cell Disease
Preventing Sickle Cell Kidney Disease
Untreated hypertension and renal injury are risk factors for increased morbidity and mortality in sickle cell disease, yet early markers of progressive disease have not been identified and therapies to prevent the development of…
- Conditions
- Anemia, Sickle Cell, Sickle Cell Disease, Kidney Disease, Hypertension
- Trial name
- NCT02373241
- Testing
- Losartan
- Where
- United States
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- University of Alabama at Birmingham
Bardet-Biedl Syndrome, Visual Impairment
Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement
In this prospective pilot study without control group children and young adults (10-25 years old) diagnosed with Bardet-Biedl syndrome and treated with Metformin for their adipositas will be evaluated for a possible additional…
- Trial name
- BBS (NCT03490019)
- Testing
- Metformin
- Sponsor
- University Hospital Tuebingen
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Fanconi Anemia
Eltrombopag for Fanconi Anemia
Background: Fanconi anemia is a genetic disease. Some people with it have reduced blood cell counts. This means their bone marrow no longer works properly.
- Trial name
- NCT03206086
- Testing
- Eltrombopag
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Fragile X Syndrome (FXS), Autism Spectrum Disorder
Group CBT in Adolescents With Fragile X Syndrome and in Adolescents With Autism Spectrum Disorder
Fragile X Syndrome (FXS) is a rare genetic syndrome, caused by a mutation in the FMR1 gene located on the X chromosome. It is considered the leading hereditary cause of intellectual disability (ID) and the primary cause of Autism…
- Trial name
- NCT06677866
- Testing
- Cognitive behavioral therapy, Waiting List
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Bambino Gesù Hospital and Research Institute
Chronic Granulomatous Disease
Stem Cell Transplant Following Low-Intensity Chemotherapy to Treat Chronic Granulomatous Disease
This study will investigate the safety and effectiveness of a modified stem cell transplant procedure for treating chronic granulomatous disease (CGD) in patients with active infection.
- Trial name
- NCT00001765
- Testing
- Nexell Isolex with T-cell Depletion, Baxter isolex 300i
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Cancer
Valacyclovir in Preventing Cytomegalovirus Infection in Patients Who Are Undergoing Donor Stem Cell Transplantation
RATIONALE: Antivirals such as valacyclovir act against viruses and may be effective in preventing cytomegalovirus. It is not yet known if valacyclovir is effective in preventing cytomegalovirus in patients undergoing stem cell…
- Trial name
- NCT00045292
- Testing
- acyclovir, acyclovir sodium, valacyclovir
- Where
- 6 sites in United States
- Sponsor
- Fred Hutchinson Cancer Center
Fragile X Syndrome, Genetic Diseases
Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome
The purpose of the study is to test the efficacy of a 20 week multi-modal treatment comprised of lovastatin or placebo, and the Parent-implemented Language Intervention (PILI) in children with fragile X syndrome (FXS).
- Trial name
- NCT02642653
- Testing
- Lovastatin
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University of California, Davis
Pain, Cystic Fibrosis
Pain in Patients With Cystic Fibrosis in Rouen University Hospital
Objectif Principal To evaluate the intensity and frequency of pain episodes in patients with cystic fibrosis followed at the cystic fibrosis center of Rouen University Hospital, Normandy, France.
- Trial name
- MUCODOL (NCT04561973)
- Testing
- numerical rating scale
- Where
- France
- Volunteers
- 109 people
- Sponsor
- University Hospital, Rouen
Pruritus, Atopic Dermatitis
Blinded, Randomized Study Evaluating Aurstat Versus Control in the Treatment of Atopic Dermatitis Associated Pruritus
To demonstrate the ability of Aurstat to reduce pruritus in subjects with mild to moderate atopic dermatitis. Efficacy results will be based on subject assessment, IGA, and photographic evidence based on ordinal scales for…
- Trial name
- AUR0613 (NCT01905631)
- Testing
- Aurstat Anti-Itch Hydrogel (Aurstat)
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- The Center for Clinical and Cosmetic Research
Sickle Cell Disease, Thalassemia
RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs)
Rare Anaemia Disorders (RADs) is a group of rare diseases characterized for presenting anaemia as the main clinical manifestation.
- Conditions
- Sickle Cell Disease, Thalassemia, Hemolytic; Anemia, Hereditary, Due to Enzyme Disorder, Anemia Due to Membrane Defect
- Trial name
- RADeep (NCT06213402)
- Testing
- Data collection from EHR.
- Where
- Spain
- Volunteers
- 32,564 people
- Sponsor
- Hospital Universitari Vall d'Hebron Research Institute
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