Clinical trials: Rare Disease
X-linked Hypophosphatemia
A First-in-human Study of KK8123 in Adults With X-linked Hypophosphatemia
A first-in-human study of KK8123 in adults with X-linked hypophosphatemia.
- Trial name
- NCT06525636
- Testing
- KK8123
- Where
- 10 sites in United States, Canada and 3 more
- Volunteers
- 39 people
- Sponsor
- Kyowa Kirin Co., Ltd.
Microvillus Inclusion Disease, Congenital Disorders
Ascending Doses of Crofelemer Powder for Oral Solution in Pediatric Microvillus Inclusion Disease (MVID)
A study that will evaluate the safety, tolerability and preliminary efficacy of multiple ascending doses of crofelemer, compared to placebo, using a randomized cross-over design within each dose level, when administered to…
- Conditions
- Microvillus Inclusion Disease, Congenital Disorders, Rare Diseases
- Trial name
- NCT06721871
- Testing
- Crofelemer Powder for Oral Solution
- Where
- 3 sites in United States, Italy and 1 more
- Volunteers
- 6 people
- Sponsor
- Napo Pharmaceuticals, Inc.
Niemann-Pick Disease Type C, GM2 Gangliosidosis
Long-Term Safety and Tolerability of Nizubaglustat in Participants With Rare Lysosomal Disorders
This is an open-label extension trial to evaluate the long-term safety and tolerability of nizubaglustat (AZ-3102) in participants with rare lysosomal disorders who have participated in a previous nizubaglustat trial and wish to…
- Conditions
- Niemann-Pick Disease Type C, GM2 Gangliosidosis, GM1 Gangliosidosis, Gaucher Disease Type 3
- Trial name
- HARBOR (NCT07885917)
- Testing
- AZ-3102
- Volunteers
- 218 people
- Sponsor
- Azafaros B.V.
MECP2 Duplication Syndrome
A First-in-Human Clinical Trial to Evaluate the Safety, Tolerability, and Efficacy of a Novel CRISPR RNA-editing Therapy in Patients with Mecp2 Duplication Syndrome, a Rare Orphan Disease (HERO)
Methyl-CpG binding protein 2 (MECP2) is a dosage-sensitive, X-linked gene critical for central nervous system development and functional maintenance, which gain-of-function causes MECP2 duplication syndrome (MDS).
- Trial name
- HERO (NCT06615206)
- Testing
- HG204
- Where
- China
- Volunteers
- 6 people
- Sponsor
- HuidaGene Therapeutics Co., Ltd.
Mitochondrial Disease, Chronic Kidney Disease
Expanded Access Program for R007 (Probucol) Tablets in Adults With Mitochondrial Disease and Chronic Kidney Disease
The purpose of this expanded access program is to enable access to R007 (probucol) tablets for the compassionate treatment of adults with mitochondrial disease who also have chronic kidney disease.
- Trial name
- NCT06931834
- Testing
- Probucol
- Where
- United States
- Sponsor
- RiboNova Inc.
Non-small Cell Lung Cancer
Study to Assess the Efficacy and Safety of Adjuvant Osimertinib in NSCLC With Uncommon EGFRm
This is an open-label, multi-centre, single-arm study assessing the efficacy and safety of osimertinib as adjuvant treatment in stage IB-IIIB (8th AJCC) NSCLC with uncommon EGFRm after receiving complete surgical resection with…
- Trial name
- NCT05546866
- Testing
- Osimertinib
- Where
- 10 sites in China
- Volunteers
- 51 people
- Sponsor
- AstraZeneca
Gaucher Disease
Implementation and Evaluation of a Rare Disease Algorithm to Identify Persons at Risk of Gaucher Disease Using Data From Electronic Health Records (EHRs) in the United States (Project Searchlight)
This is a three-phase study comprising both retrospective and prospective components, as follows: Phase I: Deployment of Rare Disease Algorithm: A diagnostic screening algorithm was developed using advanced analytical methods to…
- Trial name
- NCT05908656
- Testing
- Investigational procedure
- Where
- 3 sites in United States
- Volunteers
- 13 people
- Sponsor
- Sanofi
Cystinosis
Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis
Cystinosis is an inheritable disease that if untreated, results in kidney failure as early as the first decade of life. The current marketed therapy is Cystagon® (cysteamine bitartrate) which must be taken every six hours for the…
- Trial name
- NCT00872729
- Testing
- Cystagon®, RP103
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Amgen
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
Advanced or Metastatic NSCLC Harboring Epidermal Growth Factor Receptor (EGFR) Exon 20 Insertion (ex20ins) Mutations
A Study of Zipalertinib in Patients With Advanced Non-Small Cell Lung Cancer With Epidermal Growth Factor Receptor (EGFR) Exon 20 Insertions or Other Uncommon Mutation.
The purpose of this study is to evaluate the safety, efficacy and pharmacokinetics (PK) of zipalertinib in participants with locally advanced or metastatic Non-Small Cell Lung Cancer (NSCLC) harboring EGFR ex20ins mutations and…
- Trial name
- REZILIENT2 (NCT05967689)
- Testing
- TAS6417, CYP Cocktail, Transporter Cocktail
- Where
- 80 sites in United States, Australia and 10 more
- Volunteers
- 220 people
- Sponsor
- Taiho Oncology, Inc.
Transient Insomnia
A Study of the Safety of Gabapentin in a Potential Over-the-Counter Population With Occasional Sleeplessness
The purpose of this study is to assess the safety of gabapentin, as compared to placebo, in a potential over-the-counter population with reports of occasional sleeplessness
- Trial name
- NCT00666575
- Testing
- Gabapentin
- Where
- 23 sites in United States
- Volunteers
- 2,105 people
- Sponsor
- Pfizer's Upjohn has merged with Mylan to form Viatris Inc.
Cystinosis
Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis
Cystinosis is an inherited disease that if untreated, results in kidney failure as early as the first decade of life. The current marketed therapy is Cystagon® (cysteamine bitartrate) which must be taken every six hours for the…
- Trial name
- NCT01000961
- Testing
- Cystagon® (Cysteamine Bitartrate), Cysteamine Bitartrate Delayed-release Capsules (RP103)
- Where
- 8 sites in United States, France and 1 more
- Volunteers
- 43 people
- Sponsor
- Amgen
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
Insomnia, Sleeplessness
Evaluation of Vestibular Stimulation to Help Occasional Sleeplessness
The purpose of this study is to determine whether a small electrical current to the vestibular nerve (balance organ) will decrease the time it take for participants to fall asleep.
- Conditions
- Insomnia, Sleeplessness, Transient Insomnia
- Trial name
- VSOM (NCT00594022)
- Testing
- Electric stimulation of the Vestibular Nerve - "VirtuSom"
- Where
- 6 sites in United States
- Volunteers
- 349 people, healthy volunteers welcome
- Sponsor
- Philips Respironics
Osteogenesis Imperfecta
Post-market Observational Study on JTIN Telescopic Nail in Osteogenesis Imperfecta Pediatric Patients
This study has been planned as part of the Orthofix Srl post-market active surveillance plan for the collection of data on both the clinical performance and the safety profile of the JTIN.
- Trial name
- JTIN (NCT05612139)
- Testing
- JTIN implantation surgery
- Where
- France
- Volunteers
- 14 people
- Sponsor
- Orthofix s.r.l.
Sly Syndrome, MPS VII
Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of Age
The primary objective was to evaluate the effect of UX003 treatment in pediatric MPS VII participants less than 5 years of age on safety, tolerability, and efficacy as determined by the reduction of urinary glycosaminoglycans…
- Conditions
- Sly Syndrome, MPS VII, Mucopolysaccharidosis, Mucopolysaccharidosis VII
- Trial name
- NCT02418455
- Testing
- UX003
- Where
- 5 sites in United States, Portugal and 1 more
- Volunteers
- 8 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Alpha-Thalassemia, Beta-Thalassemia
FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases
FLOWER is a completely virtual, nationwide, real-world observational study to collect, annotate, standardize, and report clinical data for rare diseases.
- Conditions
- Alpha-Thalassemia, Beta-Thalassemia, Amyloidosis, Amyotrophic Lateral Sclerosis
- Trial name
- NCT06539169
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- xCures
Fragile X Syndrome (FXS), Fragile X Syndrome
Safety, Tolerability, and Preliminary Effectiveness of CTH120 in Fragile X Syndrome
The purpose of this Phase IIa study is to evaluate the safety, tolerability, and effectiveness of CTH120 in adult males with Fragile X syndrome.
- Trial name
- FXS-CTH120-01 (NCT07654114)
- Testing
- CTH120
- Where
- 2 sites in Spain
- Volunteers
- 30 people
- Sponsor
- Connecta Therapeutics, S.L.
Alpha 1-Antitrypsin Deficiency, Emphysema
A 12-week Study Treating Participants Who Have alpha1-antitrypsin-related COPD With Alvelestat (MPH966) or Placebo.
The purpose of this study is to investigate the effect of alvelestat (an oral neutrophil elastase inhibitor) on blood and sputum biomarkers in patients with PiZZ, null or rare variant phenotype/genotype alpha-1 anti-trypsin…
- Conditions
- Alpha 1-Antitrypsin Deficiency, Emphysema, COPD
- Trial name
- ASTRAEUS (NCT03636347)
- Testing
- Alvelestat oral tablet - dose 1, Alvelestat oral tablet - dose 2
- Where
- 26 sites in United States, Belgium and 6 more
- Volunteers
- 99 people
- Sponsor
- Mereo BioPharma
Mucopolysaccharidosis II, MPS II
Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II
The purpose of the study is to evaluate the safety, tolerability and effect on leukocyte and plasma Iduronate 2-Sulfatase (IDS) enzyme activity of ascending doses of SB-913.
- Trial name
- NCT03041324
- Testing
- SB-913
- Where
- 5 sites in United States
- Volunteers
- 9 people
- Sponsor
- Sangamo Therapeutics