Clinical trials: Rare Genetic Disorders
Rare Diseases of Genetic Origin, Rare Forms of Common Diseases Suspected of Being Genetic in Origin
Identification of the Molecular and/or Pathophysiological Bases of Rare Diseases of Genetic Origin (or Rare Forms of Frequent Diseases Suspected of Being of Genetic Origin).
Rare diseases are conditions affecting a small number of people, requiring specific and often multidisciplinary medical care. There are over 7,000 rare diseases, around 80% of which are genetic in origin.
- Trial name
- DISCOVERY (NCT03287193)
- Testing
- Blood and/or tissue sampling, high-throughput sequencing
- Where
- France
- Volunteers
- 850 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
Rare Diseases
Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power
The project aims to improve the understanding of a significant group of rare diseases both from a genetic/diagnostic and clinical/experimental point of view and aims to develop one or more diagnostic protocols.
- Trial name
- NCT04152876
- Where
- Italy
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Neuromed IRCCS
Attention, Visual Perceptual Weakness
Result of tDCS in ASD Children With Comorbidities Like PANDAS, Rare Genetic Diseases or Autoimmune Disorders
Results of the application of 100 sessions of tDCS for 12 months in children between 6 and 11 years old with autism spectrum disorder with rare diseases, genetic problems or PANDAS
- Conditions
- Attention, Visual Perceptual Weakness, Social Behavior, Fluency Disorder
- Trial name
- tDCS&ASD (NCT06368726)
- Testing
- tDCS or Transcranial Direct Current Stimulation, Risperidone
- Where
- United States
- Volunteers
- 180 people
- Sponsor
- Spanish Foundation for Neurometrics Development
Epilepsy
Open-Label PoC Trial of Ganaxolone in Children With PCDH19 Female Pediatric Epilepsy and Other Rare Genetic Epilepsies
To evaluate the efficacy of open-label ganaxolone as adjunctive therapy for uncontrolled seizures in female children with PCDH19 mutation and other rare genetic epilepsies in an open-label proof-of-concept study.
- Trial name
- NCT02358538
- Testing
- Ganaxolone
- Where
- 10 sites in United States, Italy
- Volunteers
- 30 people
- Sponsor
- Marinus Pharmaceuticals
Familial Hypercholesterolemia
Phase I Study of Ex Vivo Liver-Directed Gene Therapy for Familial Hypercholesterolemia
OBJECTIVES: I. Develop an approach for treating patients with homozygous familial hypercholesterolemia using gene therapy with autologous hepatocytes transduced with a normal low-density lipoprotein receptor gene.
- Trial name
- NCT00004809
- Testing
- gene therapy
- Volunteers
- 5 people
- Sponsor
- National Center for Research Resources (NCRR)
Spinocerebellar Ataxia
Coordination Training With Complete Body Video Games in Children and Adults With Degenerative Ataxias
Exergame training might offer a novel treatment approach even in largely nonambulatory subjects with multisystemic degenerative spinocerebellar ataxia.
- Trial name
- Move'n Fun (NCT02874911)
- Testing
- General training
- Volunteers
- 10 people
- Sponsor
- University Hospital Tuebingen
Fragile X Syndrome
CTH120 First-in-Human Study: Single and Multiple Ascending Doses and Potential Food Interaction
The purpose of this First-in-Human Phase I study is to investigate the safety, tolerability and pharmacokinetics of CTH120 in adult healthy volunteers.
- Trial name
- FIH-CTH120 (NCT06480968)
- Testing
- CTH120
- Where
- Spain
- Volunteers
- 76 people, healthy volunteers welcome
- Sponsor
- Connecta Therapeutics, S.L.
Erythropoietic Protoporphyria
Study of Cysteine Hydrochloride for Erythropoietic Protoporphyria
OBJECTIVES: I. Determine the efficacy of cysteine hydrochloride in preventing or decreasing photosensitivity in patients with erythropoietic protoporphyria.
- Trial name
- NCT00004831
- Testing
- cysteine hydrochloride
- Volunteers
- 20 people
- Sponsor
- FDA Office of Orphan Products Development
Osteopetrosis
Phase III Randomized Study of Interferon Gamma in Children With Severe, Congenital Osteopetrosis
OBJECTIVES: I. Compare the rate of treatment failure in osteopetrosis patients receiving interferon gamma in combination with calcitriol to the rate of treatment failure in patients receiving calcitriol alone. II.
- Trial name
- NCT00004402
- Testing
- calcitriol, interferon gamma
- Volunteers
- 30 people
- Sponsor
- FDA Office of Orphan Products Development
Fabry Disease
Quality of Life in Adults With Untreated Fabry Disease in Sweden (QoLUF)
Fabry disease is a rare, inherited condition that can affect multiple organs, including the heart, kidneys, and nervous system. Many people with Fabry disease live for a period of time without receiving disease-specific…
- Trial name
- QoLUF (NCT07560956)
- Testing
- Qualitative Interview
- Where
- Sweden
- Volunteers
- 35 people
- Sponsor
- Vastra Gotaland Region
Phenylketonuria
Announcement of Rare Metabolic Diseases in Systematic Newborn Screening: the Phenylketonuria Experience.
The aims of this collaborative, interdisciplinary research project are to understand and describe the psychological impact of the announcement of a rare, serious disease present since birth and detected in the context of the…
- Trial name
- ANNPHE (NCT06289348)
- Testing
- socio-psychological questionnaire, revised event impact scale (IER-S), Non directive interview
- Where
- France
- Volunteers
- 80 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Behcet's Disease, Idiopathic Inflammatory Myopathies
Drug Rediscovery for Rare Immune Mediated Inflammatory Diseases
Research into novel therapies for rare, immune-mediated inflammatory diseases (IMIDs) is limited due to small patient populations.
- Conditions
- Behcet's Disease, Idiopathic Inflammatory Myopathies, IgG4-related Disease
- Trial name
- DRIMID (NCT06285539)
- Testing
- Filgotinib
- Where
- 6 sites in Netherlands
- Volunteers
- 60 people
- Sponsor
- UMC Utrecht
Beta-Thalassemia
Phase II Study of Arginine Butyrate With or Without Epoetin Alfa in Patients With Thalassemia Intermedia
OBJECTIVES: I. Determine whether arginine butyrate with or without epoetin alfa can stimulate gamma-globin chain production to a degree that decreases anemia and results in hematologic improvement in patients with thalassemia…
- Trial name
- NCT00006136
- Testing
- arginine butyrate, epoetin alfa
- Where
- 7 sites in United States, United Kingdom
- Volunteers
- 15 people
- Sponsor
- Boston University
Hereditary Hemorrhagic Telangiectasia, Ectasia
Phase II Pilot Study of Octreotide, a Somatostatin Octapeptide Analog, for Gastrointestinal Hemorrhage in Hormone-Refractory Hereditary Hemorrhagic Telangiectasia and Senile Ectasia
OBJECTIVES: I. Evaluate the efficacy of octreotide, a somatostatin octapeptide analog, in decreasing gastrointestinal bleeding in patients with hormone-refractory hereditary hemorrhagic telangiectasia or senile ectasia.
- Trial name
- NCT00004327
- Testing
- octreotide
- Volunteers
- 8 people
- Sponsor
- National Center for Research Resources (NCRR)
Epidermolysis Bullosa Acquisita
Phase II Pilot Study of Extracorporeal Phototherapy for Epidermolysis Bullosa Acquisita
OBJECTIVES: I. Evaluate immunomodulation with extracorporeal photochemotherapy (ECP) in patients with epidermolysis bullosa acquisita. II. Investigate the effect of ECP on lymphocyte activity.
- Trial name
- NCT00004359
- Testing
- methoxsalen
- Volunteers
- 10 people
- Sponsor
- National Center for Research Resources (NCRR)
Obesity
Study to Investigate Genetic Causes of Severe Early Childhood Onset Obesity.
This study aims to investigate genetic causes of early childhood obesity. The investigators will enroll children and adults with severe early onset obesity (BMI > 99th percentile) diagnosed prior to 6 years of age.
- Trial name
- GECO (NCT01998750)
- Where
- 2 sites in United States
- Volunteers
- 500 people
- Sponsor
- Columbia University
Alpha Mannosidosis
The Natural History of Alpha-Mannosidosis
The natural history study of the rare lysosomal disease alpha-mannosidosis will answer the question; why the rare disease develops as it does?
- Trial name
- HUE-MAN (NCT00498420)
- Where
- 4 sites in Czechia, Germany and 2 more
- Volunteers
- 45 people
- Sponsor
- Zymenex A/S
Mitochondrial Diseases, Barth Syndrome
An Intermediate Size Expanded Access Protocol of Elamipretide
Choosing to participate in an expanded access program is an important personal decision. Talk with your doctor to learn more about this program.
- Trial name
- NCT04689360
- Testing
- elamipretide
- Sponsor
- Stealth BioTherapeutics Inc.
Obesity Associated With Defects in Leptin-melanocortin Pathway
Open-Label Extension Study of Setmelanotide
This is an open-label extension study designed to evaluate the long-term safety and tolerability of continued setmelanotide treatment in male and female patients ≥2 years of age who have completed or transitioned from a previous…
- Trial name
- NCT06596135
- Testing
- Setmelanotide
- Where
- 13 sites in United States
- Volunteers
- 28 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Haemophilia
Defeat Rare Disease in Asia and Pacific (APAC) DRDA - Haemophilia
This study will help to better understand the course of disease in people with haemophilia (A or B [with or without inhibitors]) and the haemophilia care scenario in the selected countries and the experience so far in dealing…
- Trial name
- NCT07163260
- Testing
- No treatment given
- Where
- 4 sites in India, Malaysia and 2 more
- Volunteers
- 244 people
- Sponsor
- Novo Nordisk A/S