Clinical trials: Rare Disease
Choroideremia
Natural Disease Progression in Participants With Choroideremia
The primary objective of this study is to quantify disease progression measured by best corrected visual acuity (BCVA) in the real-world setting among Choroideremia (CHM) participants.
- Trial name
- NCT04795206
- Testing
- No Intervention
- Where
- United States
- Volunteers
- 1,178 people
- Sponsor
- Biogen
Epilepsy, Dravet Syndrome (DS)
A Study of Soticlestat in Adults and Children With Rare Epilepsies
The main aim is to assess the long-term safety and tolerability of soticlestat when used along with other anti-seizure treatment. Participants will receive soticlestat twice a day.
- Conditions
- Epilepsy, Dravet Syndrome (DS), Lennox-Gastaut Syndrome (LGS)
- Trial name
- Endymion 1 (NCT03635073)
- Testing
- Soticlestat
- Where
- 59 sites in United States, Australia and 6 more
- Volunteers
- 156 people
- Sponsor
- Takeda
Hereditary Transthyretin-mediated Amyloidosis With Polyneropathy, Pregnancy
TEGSEDI Pregnancy Surveillance Program
This is a worldwide safety surveillance study of pregnancy outcomes in women with hATTR-PN who may have been exposed or were not exposed to TEGSEDI prior to or during the pregnancy and of pediatric outcomes up to 1 year of age.
- Trial name
- NCT04270058
- Testing
- inotersen
- Volunteers
- 20 people
- Sponsor
- Akcea Therapeutics
Friedreich's Ataxia (FA)
A Study of SGT-212 Gene Therapy in Friedreich's Ataxia
This is a phase 1b, first in-human, open-label, dose-finding study investigating the safety and tolerability of SGT-212 in participants with Friedreich's ataxia (FA).
- Trial name
- FALCON (NCT07180355)
- Testing
- SGT-212
- Where
- 3 sites in United States
- Volunteers
- 10 people
- Sponsor
- Solid Biosciences Inc.
Rare Genetic Disorders
Collection and Storage of Human Biospecimens for Research Into Rare Diseases and Medical Conditions
The objective of this protocol is to enable collection of biospecimens to facilitate current and future multidisciplinary research in rare genetic disorders and medical conditions.
- Trial name
- NCT02365376
- Where
- United States
- Sponsor
- BioMarin Pharmaceutical
Part 1: Bladder, Biliary Tract, Cervical, Endometrial, Ovarian, Pancreatic Cancer, Rare Tumors, Any Tumor Type Excluding Breast, Gastric, Colorectal Cancer, Part 2: HER2 Expressing/Amplified Solid Tumors Excluding Breast, Gastric, Colorectal Cancer
A Phase 2 Study of T-DXd in Patients With Selected HER2 Expressing Tumors
This is an open-label, multi-center, multi-cohort, Phase 2 study to evaluate the efficacy and safety of trastuzumab deruxtecan (T-DXd) for the treatment of selected HER2-expressing tumors.
- Trial name
- DPT02 (NCT04482309)
- Testing
- Trastuzumab deruxtecan
- Where
- 89 sites in United States, Australia and 15 more
- Volunteers
- 477 people
- Sponsor
- AstraZeneca
Solid Advanced Tumor, Lymphoma
Dose-finding and Dose Expansion Study of OSE-279 in Subjects With Advanced Solid Tumors or Lymphomas
This is a phase 1/2, multicenter, dose-finding and dose expansion study of OSE-279, a PD-1 blocking monoclonal antibody, in subjects with advanced solid tumors or lymphomas.
- Conditions
- Solid Advanced Tumor, Lymphoma, NSCLC (Non-small Cell Lung Cancer)
- Trial name
- NCT05751798
- Testing
- Part A: OSE-279 100mg, Part A: OSE-279 300mg, Part A: OSE-279 600mg
- Where
- 11 sites in Belgium, France and 1 more
- Volunteers
- 41 people
- Sponsor
- OSE Immunotherapeutics
Transfusional Iron Overload, β-thalassemia Major
A 4-year Extension Study to Core 1-year Study of Iron Chelation Therapy With Deferasirox in β-thalassemia Major Pediatric Patients With Transfusional Iron Overload.
In this 4-year extension study the safety, efficacy and and pharmacokinetics of deferasirox in regularly transfused pediatric patients with β-thalassemia major was assessed.
- Conditions
- Transfusional Iron Overload, β-thalassemia Major, Pediatric Rare Anemia
- Trial name
- NCT00390858
- Testing
- Deferasirox
- Where
- 4 sites in France, Italy
- Volunteers
- 40 people
- Sponsor
- Novartis Pharmaceuticals
Amyotrophic Lateral Sclerosis
GM604 Phase 2A Randomized Double-blind Placebo Controlled Pilot Trial in Amyotrophic Lateral Disease (ALS)
GM604 is an endogenous human embryonic stage neural regulatory and signaling peptide that controls the development, monitoring and correction of the human nervous system.
- Trial name
- GALS (NCT01854294)
- Testing
- GM604
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- Genervon Biopharmaceuticals, LLC
Pompe Disease
An Extension Study of S-606001 in Participants With Late-onset Pompe Disease (LOPD)
The primary purpose of this study is to evaluate the long-term safety and tolerability profile of S-606001 in participants with LOPD.
- Trial name
- NCT07750990
- Testing
- S-606001, ERT
- Volunteers
- 60 people
- Sponsor
- Shionogi
Rare Diseases, Generalized Myasthenia Gravis (gMG)
Epidemiological Study of Treatment Approaches in AChR-Antibody Positive Generalized Myasthenia Gravis in Russia
This is a multicenter, non-interventional, retrospective-prospective, single-arm observational study designed to describe real-world treatment approaches and clinical outcomes among adults with acetylcholine receptor (AChR)…
- Trial name
- NCT07247279
- Where
- 7 sites in Russia
- Volunteers
- 450 people
- Sponsor
- AstraZeneca
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
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
Hemophilia B, Mucopolysaccharidosis I
Long Term Follow-up (LTFU) of Subjects Who Received SB-318, SB-913, or SB-FIX
Long-term follow-up of subjects who received SB-318, SB-913, or SB-FIX in a previous trial and completed at least 52 weeks post-infusion follow-up in their primary protocol.
- Conditions
- Hemophilia B, Mucopolysaccharidosis I, Mucopolysaccharidosis II
- Trial name
- LTFU (NCT04628871)
- Testing
- SB-318, SB-913, SB-FIX
- Where
- 5 sites in United States
- Volunteers
- 13 people
- Sponsor
- Sangamo Therapeutics
Colic
Study to Evaluate Efficacy and Safety of Oral Doses of Hyoscine Butylbromide for the Treatment of Occasional Abdominal Pain, Cramping, and Discomfort
Study to determine whether hyoscine butylbromide can provide adequate symptomatic relief of a single episode - defined as lasting not longer than 1 day - and multiple episodes of abdominal pain or discomfort associated with…
- Trial name
- NCT02242292
- Testing
- Hyoscine butylbromide
- Volunteers
- 527 people
- Sponsor
- Boehringer Ingelheim
Tuberous Sclerosis Complex (TSC), Lymphangioleiomyomatosis (LAM)
Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM)
This study will evaluate the safety and efficacy of RAD001 in treating patients with Angiomyolipoma associated with Tuberous Sclerosis Complex or Sporadic Lymphangioleiomyomatosis.
- Trial name
- EXIST-2 (NCT00790400)
- Testing
- Everolimus (RAD001)
- Where
- 25 sites in United States, Canada and 9 more
- Volunteers
- 118 people
- Sponsor
- Novartis Pharmaceuticals
Tyrosinemia, Type I, Tyrosinemia, Type II
Acceptability/Tolerance of Protein Substitutes in Tablet Form for the Dietary Management of Rare Aminoacidopathies
The purpose of this prospective, observational study is to evaluate the tolerability and acceptability of Zero minis, a range of protein substitute tablets for use in the dietary management of children with either TYROSINAEMIA…
- Conditions
- Tyrosinemia, Type I, Tyrosinemia, Type II, Tyrosinemia, Type III, Alkaptonuria
- Trial name
- ZeroMinisMR (NCT06298292)
- Testing
- Zero minis (range of protein substitutes in tablet form)
- Volunteers
- 15 people
- Sponsor
- metaX Institut fuer Diatetik GmbH
Primary Mitochondrial Diseases
Collection of Blood and Skin Samples From Patients With Primary Mitochondrial Diseases and Healthy Volunteers
Mitochondrial diseases are a genetically diverse group of disorders, some of which are caused by mutations or deletions in the mitochondrial DNA (mtDNA) and which display a wide range of severity and phenotypes.
- Trial name
- NCT06474104
- Where
- Israel
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Minovia Therapeutics Ltd.
Anemia, Kidney Failure
Dynepo Infrequent Dosing Study
The purpose of this study is to demonstrate non-inferiority of efficacy between twice weekly and once weekly dose schedule of Dynepo in previously erythropoietin (EPO)-naive patients, as measured by haemoglobin at week 24 and…
- Trial name
- NCT00450333
- Testing
- Dynepo (Epoetin delta), Dynepo
- Where
- 53 sites in Austria, Belgium and 5 more
- Volunteers
- 407 people
- Sponsor
- Shire
Chronic Inflammatory Demyelinating Polyradiculoneuropathy
Efficacy and Safety Study of I10E in the Maintenance Treatment of Patients With CIDP: Extension of PRISM Study I10E-1302
Primary objective: To assess the efficacy of I10E administered at a reduced maintenance dose in sustaining CIDP response after an initial 6-month treatment in PRISM study. (I10E-1302).
- Trial name
- PRISM2 (NCT02317562)
- Testing
- I10E
- Where
- 30 sites in France, Italy and 4 more
- Volunteers
- 19 people
- Sponsor
- Laboratoire français de Fractionnement et de Biotechnologies