Clinical trials: Hereditary Diseases
Advanced Solid Tumors, Metastatic Solid Tumors
Phase 1b Trial of BGJ398/BYL719 in Solid Tumors
To study the safety and efficacy of the combination of BGJ398 with BYL719 in patients whose tumors express mutations to PIK3CA with or without alterations to FGFR 1-3.
- Trial name
- NCT01928459
- Testing
- BGJ398, BYL719
- Where
- 22 sites in United States, Australia and 10 more
- Volunteers
- 62 people
- Sponsor
- Novartis Pharmaceuticals
Alzheimer Disease, Down Syndrome
Hero: A Study to Evaluate the Safety, Tolerability, and Pharmacokinetics (PK) and Pharmacodynamics (PD) of ION269 in Participants With Down Syndrome (DS) at Risk for Alzheimer's Disease (AD)
The primary purpose of this study is to evaluate the safety and tolerability of ION269 in adults with Down syndrome with evidence of brain amyloid positivity.
- Trial name
- NCT06673069
- Testing
- ION269
- Where
- 6 sites in United States, Spain
- Volunteers
- 1 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Leber's Hereditary Optic Neuropathy (LHON)
Post Authorisation Safety Study With Raxone in LHON Patients
This study is a multicentre, prospective, non-interventional post-authorisation safety study (PASS) of the clinical outcomes for patients with LHON treated with Raxone®. No medication will be provided as part of this study.
- Trial name
- PAROS (NCT02771379)
- Testing
- Idebenone
- Where
- 26 sites in Austria, France and 4 more
- Volunteers
- 229 people
- Sponsor
- Santhera Pharmaceuticals
Infantile Colic
Study to Evaluate the Efficacy of a Probiotic in Infantile Colic Symptoms Relief
This study evaluates the efficacy of single strain probiotic administered in a form of a sachet in the treatment of infant colic in infants 3-12 weeks old.
- Trial name
- PIXAR (NCT05432479)
- Testing
- Probiotic
- Where
- 2 sites in United States, India
- Volunteers
- 101 people
- Sponsor
- The Archer-Daniels-Midland Company
Transthyretin Amyloid Cardiomyopathy (ATTR-CM)
A Study to Learn About the Use of Acoramidis in Patients With a Heart Condition Called Transthyretin Amyloid Cardiomyopathy (ATTR-CM) in a Real-world Setting
Transthyretin Amyloid Cardiomyopathy (ATTR-CM) is a serious and life-threatening condition where a protein called transthyretin (TTR) misfolds and builds up as amyloid fibrils in the heart muscle.
- Trial name
- ACO-REAL (NCT07235462)
- Testing
- Acoramidis (356 mg film-coated tablets)
- Where
- 17 sites in Austria, Belgium and 15 more
- Volunteers
- 2,000 people
- Sponsor
- Bayer
Gout, Hyperuricemia
Safety and Efficacy Study of Intravenous Uricase-PEG 20
The purpose of this study is to assess the safety, pharmacokinetics and pharmacodynamics of single intravenous doses of Uricase-PEG 20.
- Trial name
- NCT01021241
- Testing
- Uricase-PEG 20
- Where
- 2 sites in United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- EnzymeRx
Wilson Disease
Efficacy and Safety of ALXN1840 Administered for 48 Weeks Versus Standard of Care in Participants With Wilson Disease
The study will evaluate the efficacy and safety of ALXN1840 (formerly called WTX101) administered for 48 weeks compared to standard of care (SoC) in Wilson Disease (WD) participants aged 12 and older in the Primary Evaluation…
- Trial name
- NCT03403205
- Testing
- ALXN1840, SoC Therapy
- Where
- 56 sites in United States, Australia and 20 more
- Volunteers
- 214 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Atopic Dermatitis
Bioequivalence of Two Tacrolimus 0.1% Topical Ointment Formulations in Patients With Atopic Dermatitis
The primary objectives are to establish the therapeutic equivalence of tacrolimus ointment 0.1%, manufactured by Taro Pharmaceuticals Inc.
- Trial name
- NCT00833079
- Testing
- Tacrolimus 0.1% manufactured by Taro, Protopic - Tacrolimus 0.1%, Tacrolimus Vehicle manufactured by Taro
- Volunteers
- 500 people
- Sponsor
- Sun Pharmaceutical Industries, Inc.
Dermatitis, Atopic
Treatment of Atopic Dermatitis by a Full-Body Blue Light Device
Multicentric, placebo-controlled, double-blinded, three-armed, prospective, randomized controlled trial.150 patients diagnosed with atopic dermatitis will be randomized to arm 1 (irradiation for 30min at 415nm wavelength), arm 2…
- Trial name
- AD-Blue (NCT03085303)
- Testing
- Full Body Blue Light Device
- Where
- 3 sites in Germany, Switzerland
- Volunteers
- 87 people
- Sponsor
- Philips Electronics Nederland BV
Osteogenesis Imperfecta
An Exploratory Study of BPS804 Treatment in Adult Patients With Type I, III or IV Osteogenesis Imperfecta
The purpose of this study is to investigate the effect of BPS804 on strength/quality of bone in patients with Type I, III or IV Osteogenesis imperfecta using a special type of CT scanner. Participants will be treated for 1 year.
- Trial name
- Meteoroid (NCT03216486)
- Testing
- BPS804
- Where
- 2 sites in United States
- Sponsor
- Ultragenyx Pharmaceutical Inc
Microcephaly, Congenital Infection
Surveillance of Zika-related Microcephaly in Sub-Saharan Africa and Asia
This study will explore whether ZIKV is currently responsible for neurological complications, and particularly microcephaly, in Aedes-infested regions of Sub-Saharan Africa (SSA) and Asia.
- Trial name
- NCT03922594
- Testing
- Differential diagnosis for infectious causes of microcephaly
- Where
- 8 sites in Cameroon, China and 3 more
- Volunteers
- 150 people
- Sponsor
- Institut Pasteur
Sickle Cell Disease
Absorption, Metabolism, and Excretion of a Single Dose of Ferriprox® in Patients With Sickle Cell Disease
The objective of this study is to evaluate the pharmacokinetics of deferiprone and its 3-O-glucuronide metabolite following administration of a single 1500 mg dose of Ferriprox in patients with sickle cell disease.
- Trial name
- NCT01835496
- Testing
- single 1500 mg dose of Ferriprox
- Where
- Canada
- Volunteers
- 8 people
- Sponsor
- ApoPharma
Retinitis Pigmentosa, Retinal Disease
A Long-Term Follow-Up Study in Subjects Who Received vMCO-I Administered Via Intravitreal Injection
This study "A Long-Term Follow-Up Study in Subjects Who Received an Adeno-Associated Viral Vector Serotype 2 Containing the Multi-Characteristic Opsin Gene (vMCO-I) Administered Via Intravitreal Injection" is an observational…
- Conditions
- Retinitis Pigmentosa, Retinal Disease, Retinal Degeneration
- Trial name
- EXTEND (NCT05921162)
- Testing
- Gene Therapy product:vMCO-I
- Where
- India
- Volunteers
- 11 people
- Sponsor
- Nanoscope Therapeutics Inc.
Homozygous Familial Hypercholesterolaemia (HoFH)
Efficacy and Safety of Lomitapide in Paediatric Patients With Homozygous Familial Hypercholesterolaemia (HoFH)
This is a single arm, open label, multi centre phase III study to evaluate the efficacy and long term safety of lomitapide in paediatric patients with HoFH receiving stable lipid lowering therapy (LLT) (including lipoprotein…
- Trial name
- NCT04681170
- Testing
- Lomitapide
- Where
- 12 sites in Germany, Israel and 4 more
- Volunteers
- 46 people
- Sponsor
- Amryt Pharma
Chronic Kidney Disease
A Study of PRT-201 Administered Immediately After Radiocephalic Arteriovenous Fistula(AVF) Creation in Patients With Chronic Kidney Disease (CKD) (PATENCY-1)
This research study is designed to assess the safety and effectiveness of an experimental drug called PRT-201 in patients both receiving or expecting to receive dialysis who have chronic kidney disease and who are undergoing…
- Trial name
- NCT02110901
- Testing
- PRT-201
- Where
- 35 sites in United States
- Volunteers
- 349 people
- Sponsor
- Proteon Therapeutics
Hemophilic Arthropathy
Rofecoxib Efficacy and Safety Evaluation Trial in Hemophilic Arthropathy
This is a multicenter, randomized, double-blind study to evaluate the efficacy and safety of TRM-201 (rofecoxib) versus Placebo in the treatment of patients with hemophilic arthropathy (HA) over a 12-week period (Part I) that is…
- Trial name
- RESET-HA (NCT04684511)
- Testing
- TRM-201 (Rofecoxib)
- Where
- 46 sites in United States, Australia and 6 more
- Volunteers
- 2 people
- Sponsor
- Tremeau Pharmceuticals, Inc.
Alpha-1 Antitrypsin Deficiency (AATD)
A Phase 1 Research Study to Evaluate Safety, Tolerability, and Pharmacokinetics of WVE-006 in Healthy Participants With Wild-type AAT Expression (RestorAATion-1)
This study is the first study in the RestorAATion clinical program. The purpose of this first-in human (FIH), double-blind, randomized, placebo-controlled, single ascending dose (SAD) and multiple-dose Phase 1 study is to assess…
- Trial name
- RestorAATion-1 (NCT06186492)
- Testing
- WVE-006
- Where
- United Kingdom
- Volunteers
- 47 people, healthy volunteers welcome
- Sponsor
- Wave Life Sciences USA, Inc.
LCA (Leber Congenital Amaurosis), RP (Retinitis Pigmentosa)
Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01)
The purpose of this study is: To evaluate the safety of up to 3 additional courses of oral QLT091001 administered once daily for 7 days in subjects treated previously with a single 7-day course of QLT091001 in Study RET IRD 01 To…
- Trial name
- NCT01521793
- Testing
- QLT091001
- Where
- 6 sites in United States, Canada and 3 more
- Volunteers
- 27 people
- Sponsor
- QLT Inc.
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Polycystic Kidney Disease 1 (PKD1) Gene Variant Groups in Autosomal Dominant Polycystic Kidney Disease
The purpose of this study is to estimate the prevalence, demographic, and clinical characteristics of PKD1/2 gene variant groups in the ADPKD population.
- Trial name
- NCT06747572
- Where
- 45 sites in United States, Belgium and 7 more
- Volunteers
- 401 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Rheumatoid Arthritis, Osteoarthritis
A Two Centre Study to Assess the Long-term Performance of the Pinnacle™ Cup With a Metal-on-Metal Bearing in Primary Total Hip Replacement
The purpose of this study is to monitor the performance and determine the metal ion release of the Pinnacle™ Cup with a metal-on-metal bearing combination in the treatment of patients with hip joint disease requiring a total hip…
- Conditions
- Rheumatoid Arthritis, Osteoarthritis, Post-traumatic Arthritis, Collagen Disorders
- Trial name
- NCT00208364
- Testing
- Pinnacle Acetabular Cup System
- Where
- 2 sites in Italy, United Kingdom
- Volunteers
- 163 people
- Sponsor
- DePuy International
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