Clinical trials: Rare Disorders
Rare Diseases
NICUSeq: A Trial to Evaluate the Clinical Utility of Human Whole Genome Sequencing (WGS) Compared to Standard of Care in Acute Care Neonates and Infants
Prospective, multi-site, study to evaluate the clinical utility of cWGS in a proband. One group will receive cWGS and a clinical report approximately 15 days after blood samples are received, while the other group will continue…
- Trial name
- NICU-Seq (NCT03290469)
- Testing
- clinical whole genome sequencing (cWGS)
- Where
- 5 sites in United States
- Volunteers
- 355 people
- Sponsor
- Illumina, Inc.
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
Aspergillosis, Invasive Fungal Infections
Isavuconazole in the Treatment of Renally Impaired Aspergillosis and Rare Fungi
The purpose of this study is to investigate the efficacy and safety of isavuconazole in the treatment of renally impaired participants with invasive fungal infections caused by Aspergillus and participants with invasive fungal…
- Trial name
- VITAL (NCT00634049)
- Testing
- isavuconazole
- Where
- 96 sites in United States, Argentina and 17 more
- Volunteers
- 149 people
- Sponsor
- Astellas Pharma Inc
Pompe Disease
Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)
The purpose of this study is to evaluate the safety, pharmacodynamics (PD), and exploratory clinical efficacy of S-606001 in adult participants with LOPD as an add-on to ERT.
- Trial name
- NCT07123155
- Testing
- S-606001
- Where
- 28 sites in United States, Belgium and 7 more
- Volunteers
- 45 people
- Sponsor
- Shionogi
Atherosclerotic Disease, Carotid
Post-Approval Study of the Guidant Carotid Stent Systems and Embolic Protection Systems: CAPTURE
This purpose of this study is to collect data on the FDA-approved ACCULINK(TM) Carotid Stent System and FDA 510(k)-cleared ACCUNET(TM) Embolic Protection System for the treatment of patients with atherosclerotic disease, when…
- Trial name
- NCT00180492
- Testing
- RX ACCULINK(TM) Carotid Stent System and RX ACCUNET(TM) Embolic Protection System
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- Abbott Medical Devices
Cystinosis
Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis
This was a long-term, open-label study of the safety, tolerability and effectiveness of RP103 in cystinosis patients who were naïve to any form of cysteamine treatment.
- Trial name
- NCT01744782
- Testing
- RP103
- Where
- 2 sites in United States, Brazil
- Volunteers
- 17 people
- Sponsor
- Amgen
Fabry Disease
Dose-Ranging Study of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects With Fabry Disease (STAAR)
This is the first in human treatment with ST-920, an adeno-associated virus (AAV2/6) vector encoding the complementary deoxyribonucleic acid (cDNA) for human a-Gal A.
- Trial name
- NCT04046224
- Testing
- ST-920
- Where
- 18 sites in United States, Australia and 5 more
- Volunteers
- 36 people
- Sponsor
- Sangamo Therapeutics
Ichthyosis
Phase III Study of Monolaurin Cream Therapy for Patients With Congenital Ichthyosis
OBJECTIVES: I. Compare the safety and efficacy of monolaurin cream versus a placebo vehicle cream in suppressing the signs of nonbullous congenital ichthyosiform erythroderma. II.
- Trial name
- NCT00004690
- Testing
- monolaurin cream
- Volunteers
- 90 people
- Sponsor
- Cellegy Pharmaceuticals
Huntington Disease
A Study to Evaluate the Safety and Efficacy of PTC518 in Participants With Huntington's Disease (HD)
The primary goal of this study is to evaluate the safety and pharmacodynamic effects of PTC518 compared with placebo in participants with HD.
- Trial name
- NCT05358717
- Testing
- PTC518
- Where
- 28 sites in United States, Australia and 9 more
- Volunteers
- 159 people
- Sponsor
- Novartis Pharmaceuticals
Pustular Psoriasis (PP), Generalized Pustular Psoriasis (GPP)
Evaluating Legit.Health Plus Support for Improving Diagnosis of Generalized Pustular Psoriasis and Other Skin Conditions Among Primary Care Physicians and Dermatologists
This study aims to determine if an artificial intelligence (AI) medical device can help healthcare professionals more accurately diagnose rare and complex skin conditions.
- Conditions
- Pustular Psoriasis (PP), Generalized Pustular Psoriasis (GPP), Eczema Atopic Dermatitis, Acute Generalized Exanthematous Pustulosis
- Trial name
- LegitHealth BI (NCT07428915)
- Testing
- AI-based medical device for aided diagnosis in Dermatology
- Where
- Spain
- Volunteers
- 15 people
- Sponsor
- AI Labs Group S.L
Mucopolysaccharidosis Type 7
An Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of Study Drug UX003 Recombinant Human Beta-glucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7)
UX003-CL201 is an open-label Phase 1/2 study to assess the safety, efficacy, and dose of UX003 in MPS 7 patients via intravenous (IV) administration every other week (QOW) for 36 weeks with up to an additional 36 weeks from the…
- Trial name
- NCT01856218
- Testing
- UX003
- Where
- United Kingdom
- Volunteers
- 3 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
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.
Spinal Muscular Atrophy
A Real-World Medical Chart Review of Spinal Muscular Atrophy Patients Treated With Onasemnogene Abeparvovec in Saudi Arabia
The aim of this retrospective medical chart review is to describe the clinical outcomes, clinical characteristics, and demographics of patients with spinal muscular atrophy (SMA) type 1 treated with onasemnogene abeparvovec (OA)…
- Trial name
- SMA-REAL (NCT07737756)
- Volunteers
- 6 people
- Sponsor
- Novartis Pharmaceuticals
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.
Hypertension
COOL-BP Study: Continuous Versus Occasional Blood Pressure Study
The COOL-BP study is part of the Remote Hypertension Program and will investigate the data provided by Aktiia Bracelet (a cuffless Blood Pressure monitor at the wrist) when integrated into the Remote Hypertension Program.
- Trial name
- NCT05211648
- Testing
- Aktiia Bracelet
- Where
- United States
- Volunteers
- 55 people
- Sponsor
- Aktiia SA
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.
Rare Diseases
A Multi-Site Leukopak Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives
To collect, preserve, and distribute annotated leukopak biospecimens and associated medical data to institutionally approved, investigator-directed biomedical research to discover and develop new treatments, diagnostics, and…
- Trial name
- NCT05794217
- Testing
- This is a non-interventional study
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Sanguine Biosciences
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
Duchenne Muscular Dystrophy (DMD)
A Study to Assess Safety/Tolerability, pk, Effects on Histology, Clinical Parameters of Givinostat in Children With DMD
The primary objective of Parts 1 and 2 of the study were to establish the histologic effects of givinostat administered chronically at the selected daily dose.
- Trial name
- NCT01761292
- Testing
- Givinostat
- Where
- 4 sites in Italy
- Volunteers
- 20 people
- Sponsor
- Italfarmaco