Clinical trials: Rare Genetic Disease
Tourette Syndrome
Phase III Randomized, Double-Blind, Placebo-Controlled Study of Guanfacine for Tourette Syndrome and Attention Deficit Hyperactivity Disorder
OBJECTIVES: I. Evaluate the safety and efficacy of the alpha-2 adrenergic agonist guanfacine in children and adolescents with Tourette syndrome or other chronic tic disorder, and attention deficit hyperactivity disorder.
- Trial name
- NCT00004376
- Testing
- guanfacine
- Volunteers
- 35 people
- Sponsor
- National Center for Research Resources (NCRR)
Chediak-Higashi Syndrome, Graft Versus Host Disease
Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders
OBJECTIVES: I. Determine the efficacy of unrelated donor hematopoietic stem cell transplantation in the treatment of patients with life threatening hemophagocytic disorders. II.
- Conditions
- Chediak-Higashi Syndrome, Graft Versus Host Disease, X-Linked Lymphoproliferative Syndrome, Familial Erythrophagocytic Lymphohistiocytosis
- Trial name
- NCT00006056
- Testing
- anti-thymocyte globulin, busulfan, cyclophosphamide
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Fairview University Medical Center
Autism, Autism Spectrum Disorder
Autism Genomics Sweden - Genetic Guidance and Information Trial
This observational clinical trial aims to evaluate whether providing genetic information about the origins of autism and related psychiatric disorders enhances understanding, well-being, and empowerment in adolescents and young…
- Conditions
- Autism, Autism Spectrum Disorder, ADHD - Attention Deficit Disorder With Hyperactivity, Depression Anxiety Disorder
- Trial name
- AuGeS-GV (NCT06740760)
- Testing
- Genetic counselling, Leaflet
- Where
- Sweden
- Volunteers
- 63 people
- Sponsor
- Karolinska Institutet
Rett Syndrome
Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome
OBJECTIVES: I. Evaluate electrocardiographic parameters, including QT and PR intervals and QRS morphology/duration, across clinical stages in patients with Rett syndrome. II.
- Trial name
- NCT00004773
- Volunteers
- 95 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Haemoglobinopathies
Observational Study for Patients With Hemoglobinopathies and Rare Inherited Anemia and Covid 19
The COVID-19 pandemic is causing many deaths around the world, putting a strain on health services. Patients with pre-existing chronic conditions are most affected by the SARS-COV2 infection.
- Trial name
- NCT04746066
- Where
- 2 sites in Italy
- Volunteers
- 10,000 people
- Sponsor
- Società Italiana Talassemie ed Emoglobinopatie
Hyperaldosteronism
Study of Prevalence and Clinical Phenotype in Patients With Glucocorticoid-Remediable Aldosteronism
OBJECTIVES: I. Determine the prevalence of glucocorticoid-remediable aldosteronism (GRA) in various hypertensive populations and screen at risk members of GRA pedigrees. II.
- Trial name
- NCT00004354
- Where
- United States
- Sponsor
- National Center for Research Resources (NCRR)
Mucopolysaccharidosis Type 7
An Open-Label Treatment Protocol With UX003 rhGUS Enzyme Replacement Therapy for an Advanced Stage MPS 7 Patient
Emergency access granted to treat a single patient with advanced Mucopolysaccharidosis Type 7 with UX003 Recombinant Human Beta-glucuronidase (rhGUS) Enzyme Replacement Therapy via IV administration every other week (QOW) for up…
- Trial name
- NCT02097251
- Testing
- UX003
- Where
- United States
- Sponsor
- Joyce Fox
Myotonic Muscular Dystrophy
Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic Dystrophy
OBJECTIVES: I. Examine the interrelationships between muscle wasting (phenotype), the degree of myotonic dystrophy (DM) gene expression (genotype) in patients with DM. II. Characterize the insulin resistance in these patients.
- Trial name
- NCT00004769
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- University of Rochester
Cardiac Amyloidosis
AI Echocardiographic Screening of Cardiac Amyloidosis
Recent advances in machine learning and image processing techniques have shown that machine learning models can identify features unrecognized by human experts and accurately assess common measurements made in clinical practice.
- Trial name
- NCT06664866
- Testing
- EchoNet-LVH Assessment
- Where
- 4 sites in United States
- Volunteers
- 500 people
- Sponsor
- Cedars-Sinai Medical Center
Fabry Disease, Fabry Disease, Cardiac Variant
Long-Term Follow-up of Subjects Who Were Treated With ST-920
Long-term follow-up of subjects who received ST-920 in a previous trial (ST-920-201) and completed at least 52 weeks post-infusion follow-up in their primary protocol.
- Trial name
- NCT05039866
- Testing
- ST-920
- Where
- 13 sites in United States, Australia and 3 more
- Volunteers
- 32 people
- Sponsor
- Sangamo Therapeutics
Rare Diseases
European Registry on Rare Neurological Diseases
The recent implementation of European Reference Networks for Rare Diseases (ERNs) is an unprecedented move to improve the care of patients suffering from rare health disorders by transnational collaboration.
- Trial name
- ERN-RND reg (NCT04319796)
- Testing
- Data set as defined by the ERN Research Workgroup of the European Commission
- Volunteers
- 5,000 people
- Sponsor
- University Hospital Tuebingen
Multiple Osteochondroma, Ollier Disease
Ready to Sail: Evaluating Sailing's Feasibility as Ergotherapy
Background Individuals with rare skeletal disorders frequently experience psychological distress, social isolation, unmet needs, and significant challenges due to limited treatment options.
- Conditions
- Multiple Osteochondroma, Ollier Disease, Osteogenesis Imperfecta
- Trial name
- PaS (NCT06397443)
- Testing
- 5-day sailing activity
- Where
- Italy
- Volunteers
- 8 people
- Sponsor
- Istituto Ortopedico Rizzoli
Rare Fetal Genetic Diseases, Congenital Malformation
Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset
It is necessary to define reference DNA Methylation Episignatures from fetal DNA. The hypotheses are: It is possible to define reference DNA Methylation Episignatures from fetal DNA extracted from amniotic fluid or frozen tissues…
- Trial name
- FOETEPISIGN (NCT06475651)
- Testing
- Methylation analysis
- Where
- France
- Volunteers
- 63 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Hereditary Tyrosinemia, Type I
A Non-interventional, Post-Marketing Study to Describe Outcome of Nitisinone Treatment in HT-1 Patients
This is a prospective, non-interventional, non-comparative, multicenter study to collect data on HT-1 patients in China treated with Nitisinone in a routine clinical setting. No tests or examinations are mandated in the study.
- Trial name
- NCT06227429
- Testing
- Nitisinone
- Where
- 4 sites in China
- Sponsor
- Swedish Orphan Biovitrum
Metabolic Disease, Fabry Disease
Getting Global Rare Disease Insights Through Technology Study
This project is a randomized controlled trial to use a mobile health journal, called Zamplo (formerly known as MyHealthJournal or ZoeInsights), to record patient reported outcomes (PROM) in patients with metabolic disorders.
- Conditions
- Metabolic Disease, Fabry Disease, Gaucher Disease, Pompe Disease
- Trial name
- GRIT (NCT04758130)
- Testing
- Zamplo Digital Health Platform
- Where
- Canada
- Volunteers
- 150 people
- Sponsor
- M.A.G.I.C. Clinic LTD
Motor Neuron Diseases, Spinocerebellar Ataxias
Rare Disease Registry Database for Movement Disorders in Southern Anhui Province
According to the World Health Organization (WHO) definition, a rare disease is a disease affecting fewer than 6.5 people per 10,000; in China, it generally refers to diseases with a prevalence of less than 1/10,000 (i.e., with a…
- Conditions
- Motor Neuron Diseases, Spinocerebellar Ataxias, Hereditary Muscular Dystrophy, Hereditary Spastic Paraplegia
- Trial name
- W-MoSCA (NCT07838883)
- Where
- China
- Volunteers
- 180 people
- Sponsor
- First Affiliated Hospital of Wannan Medical College
Kabuki Syndrome 1
Exploiting Epigenome Editing in Kabuki Syndrome: a New Route Towards Gene Therapy for Rare Genetic Disorders
Starting from isolating primary cells from affected patients, an in vitro disease model system for KS will be developed. Using alternative strategies to obtain patient-derived mesenchymal stem cells, an integrative approach will…
- Trial name
- Epi-KAB (NCT03855631)
- Testing
- Intervention on primary cultured cells
- Where
- France
- Volunteers
- 8 people
- Sponsor
- University Hospital, Montpellier
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Simulated and Synthetic Health Data: Improving Clinical Research on Rare Diseases. A Real-World Data Simulation of Autosomal Dominant Polycystic Kidney Disease (ADPKD) Trials. A Retrospective, Observational Study
This is a no-profit, retrospective observational study involving real-world data (RWD), retrieved from ADPKD-related electronic health records stored at Mario Negri Institute IRCCS.
- Trial name
- SAILING-ADPKD (NCT07016282)
- Where
- 2 sites in Italy, Sweden
- Volunteers
- 100 people
- Sponsor
- Mario Negri Institute for Pharmacological Research
Neuromuscular Diseases, Eye Diseases
Precision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding Genomes
PARADIGM study, funded by the PNRR research grant, will focus on Eye Diseases (ED) and Neuro-Muscular Diseases (NMD) as groups of genetically heterogeneous diseases which are extensively studied by the Partners partecipating in…
- Conditions
- Neuromuscular Diseases, Eye Diseases, Genetic Disease
- Trial name
- NCT06775561
- Testing
- PARADIGM study aims to streamline the process from genomic characterization of RGD patients with ED/NMD to identification of the suitable personalized therapy.
- Where
- Italy
- Volunteers
- 100 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
GM1 Gangliosidosis, GM1 Gangliosidosis, Type I
Study of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Participants With GM1 Gangliosidosis
PBGM01 is a gene therapy for GM1 gangliosidosis intended to deliver a functional copy of the GLB1 gene to the brain and peripheral tissues.
- Conditions
- GM1 Gangliosidosis, GM1 Gangliosidosis, Type I, GM1 Gangliosidosis, Type 2, Beta-Galactosidase-1 (GLB1) Deficiency
- Trial name
- Imagine-1 (NCT04713475)
- Testing
- PBGM01
- Where
- 7 sites in United States, Brazil and 2 more
- Volunteers
- 26 people
- Sponsor
- Gemma Biotherapeutics