Clinical trials: Genetic Conditions
Abdominal Pain, Functional Abdominal Pain
Epidemiological Analysis for Hereditary Angioedema Disease
An international, multicenter, epidemiological, observational study investigating the prevalence of Hereditary Angioedema (HAE) disease among participants with recurrent episodes of abdominal pain of no obvious etiology.
- Trial name
- EHA (NCT03558009)
- Where
- 35 sites in Germany, Italy and 4 more
- Volunteers
- 2,318 people
- Sponsor
- CENTOGENE GmbH Rostock
Leukodystrophy, Globoid Cell
Study of Safety, Tolerability and Efficacy of PBKR03 in Pediatric Subjects With Early Infantile Krabbe Disease
PBKR03 is a gene therapy for Krabbe Disease (Globoid cell leukodystrophy) intended to deliver a functional copy of the GALC gene to the brain and peripheral tissues.
- Trial name
- GALax-C (NCT04771416)
- Testing
- PBKR03
- Where
- 9 sites in United States, Brazil and 4 more
- Volunteers
- 24 people
- Sponsor
- Gemma Biotherapeutics
Congenital Afibrinogenemia, Congenital Hypofibrinogenemia
Pharmacokinetic, Efficacy and Safety of BT524 in Patients With Congenital Fibrinogen Deficiency
This was a prospective, open-label, multicenter, phase I/III study investigating the 14-day single-dose pharmacokinetic and pharmacodynamic properties, efficacy and safety of BT524 following intravenous administration in the…
- Trial name
- NCT02065882
- Testing
- BT524 (Part I), BT524 (Part II)
- Where
- 6 sites in Bulgaria, Egypt and 3 more
- Volunteers
- 67 people
- Sponsor
- Biotest
Alpha 1-Antitrypsin Deficiency
A Study of KB408 for the Treatment of Alpha-1 Antitrypsin Deficiency
The Sponsor is developing KB408, a replication-defective, non-integrating herpes simplex virus type 1 (HSV-1)-derived vector engineered to deliver functional full-length human SERPINA1 to the airways of people with alpha-1…
- Trial name
- Serpentine-1 (NCT06049082)
- Testing
- KB408 (Nebulization)
- Where
- 3 sites in United States
- Volunteers
- 15 people
- Sponsor
- Krystal Biotech, Inc.
Von Willebrand Disease (VWD), Heavy Menstrual Bleeding (HMB)
HMBeacon: A Phase 2 Study to Evaluate ALN-6400 in Adult and Adolescent Female Patients With VWD and HMB
The purpose of this study is to evaluate the safety, tolerability, efficacy, and pharmacodynamics (PD) of multiple doses of ALN-6400 in adult and adolescent patients with VWD and HMB
- Trial name
- HMBeacon (NCT07575308)
- Testing
- ALN-6400
- Where
- 21 sites in United States, Netherlands and 3 more
- Volunteers
- 24 people
- Sponsor
- Alnylam Pharmaceuticals
Hunter Syndrome
A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase®
Elaprase (idursulfase), a large molecular protein, is not expected to cross the blood brain barrier at therapeutic levels when administered intravenously.
- Trial name
- NCT00920647
- Testing
- Control, Idursulfase IT (1 mg), Idursulfase IT (10 mg)
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 16 people
- Sponsor
- Shire
Alpha-1 Antitrypsin Deficiency
Safety & Efficacy Study of rAAV1-CB-hAAT for Alpha-1 Antitrypsin Deficiency
Assessment of the safety and efficacy of intramuscular (IM) administration of a recombinant adenoassociated virus (rAAV) alpha-1 antitrypsin (AAT) vector (rAAV1-CB-hAAT) in AAT-deficient adults at three dosage levels [6.0 ×…
- Trial name
- NCT01054339
- Testing
- rAAV1-CB-hAAT
- Where
- 4 sites in United States, Ireland
- Volunteers
- 9 people
- Sponsor
- Beacon Therapeutics
Hypothalamic Obesity, Prader-Willi Syndrome
A Study of RM-718 in Healthy Subjects and Patients With MC4R Pathway Impairment
The purpose of this study is to evaluate the safety, tolerability, and PK of RM-718 in healthy subjects with obesity and in patients with MC4R Pathway Impairment
- Conditions
- Hypothalamic Obesity, Prader-Willi Syndrome, PWS
- Trial name
- NCT06239116
- Testing
- Part C: RM-718, Part D: RM-718
- Where
- 7 sites in United States
- Volunteers
- 111 people, healthy volunteers welcome
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Hemophilia A
A Study to Evaluate Impact of Efanesoctocog Alfa on Long-term Joint Health in Participants With Hemophilia A in Taiwan
This is a national, multicenter, retrospective/prospective, observational study in Taiwan designed to assess effectiveness, safety, and usage of efanesoctocog alfa prophylaxis treatment in hemophilia A participants.
- Trial name
- PROTECT-ALT (NCT06684314)
- Testing
- Efanesoctocog alfa
- Where
- 10 sites in Taiwan
- Volunteers
- 79 people
- Sponsor
- Sanofi
Cystic Fibrosis, Chronic Obstructive Pulmonary Disease
A Phase 1 Study to Characterize the Effect of GS-5737 Enhancement of Mucociliary Clearance (MCC) in Healthy Subjects
This is a randomized, double-blind, cross-over, vehicle-controlled study to determine whether GS-5737 in 2.8% saline accelerates mucociliary clearance (MCC) in healthy subjects, compared to vehicle of 2.8% saline alone.
- Trial name
- NCT01793649
- Testing
- GS-5737
- Where
- United States
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Gilead Sciences
Dermatitis, Atopic
Study of Commercial and Phase 3 of PF-04965842 Formulations, Estimation of Effect of Food on Commercial Formulation
Part A To measure and compare the amount of study drug in the blood after a single 200 mg dose of study drug given as the commercial tablet formulation and the Phase 3 tablet formulation under fasting conditions To measure and…
- Trial name
- NCT04065633
- Testing
- P3-Fast, Comm-Fast, Vari-Fast
- Where
- United States
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- Pfizer
Growth Disorders
Treatment of Children and Adolescents With Growth Failure Associated With Primary IGF-1 Deficiency
This is an extension study to Tercica study MS301 (NCT00125164) and is intended to collect long term safety and efficacy data on the continued use of recombinant human insulin-like growth factor-1 (rh IGF-1) in children and…
- Trial name
- NCT00330668
- Testing
- rh IGF-1 (mecasermin)
- Where
- France
- Volunteers
- 114 people
- Sponsor
- Ipsen
Cancer, Pancreatic Cancer
9-ING-41 in Patients With Advanced Cancers
GSK-3β is a potentially important therapeutic target in human malignancies. The Actuate 1801 Phase 1/2 study is designed to evaluate the safety and efficacy of 9-ING-41, a potent GSK-3β inhibitor, as a single agent and in…
- Conditions
- Cancer, Pancreatic Cancer, Sarcoma, Renal Cancer
- Trial name
- NCT03678883
- Testing
- 9-ING-41, Gemcitabine - 21 day cycle, Doxorubicin.
- Where
- 66 sites in United States, Belgium and 5 more
- Volunteers
- 350 people
- Sponsor
- Actuate Therapeutics Inc.
Niemann-Pick Disease, Type C
Adrabetadex to Treat Niemann-Pick Type C1 (NPC1) Disease
Due to different study designs, the sponsor separated Part C into this separate registration (NCT04958642), leaving Parts A/B in NCT02534844.
- Trial name
- NCT04958642
- Testing
- Adrabetadex
- Where
- 30 sites in United States, Australia and 7 more
- Volunteers
- 66 people
- Sponsor
- Mandos LLC
Turner Syndrome, Renal Insufficiency, Chronic
Study to Define Optimal IGF-1 Monitoring in Children Treated With NutropinAq
The main purpose of this study is to establish an optimal monitoring regimen in NutropinAq treated children, using newly developed capillary blood spot IGF-1 measurement technology.
- Conditions
- Turner Syndrome, Renal Insufficiency, Chronic, Pituitary Diseases, Dwarfism
- Trial name
- OPTIMA (NCT00234533)
- Testing
- Somatropin (rDNA origin)
- Where
- 45 sites in Belgium, Czechia and 12 more
- Volunteers
- 251 people
- Sponsor
- Ipsen
HER2 Positive Breast Neoplasms, Hormone Receptor Positive Breast Neoplasms
A Safety Study of SGN-LIV1A in Breast Cancer Patients
This study will examine the safety and tolerability of ladiratuzumab vedotin (LV) in patients with metastatic breast cancer. LV will be given alone or in combination with trastuzumab.
- Conditions
- HER2 Positive Breast Neoplasms, Hormone Receptor Positive Breast Neoplasms, Triple Negative Breast Neoplasms, HER2 Mutations Breast Neoplasms
- Trial name
- NCT01969643
- Testing
- ladiratuzumab vedotin, Trastuzumab
- Where
- 38 sites in United States
- Volunteers
- 290 people
- Sponsor
- Seagen Inc.
Gout
Dose Finding Study to Evaluate Safety and Efficacy of 3 Dosages of SAP 001.
The aim of this study is to confirm the safety and pharmacological characteristics of SAP-001, evaluate its efficacy in lowering sUA and tophus burden, and identify the appropriate dose regimen for future studies in adult…
- Trial name
- NCT05690204
- Testing
- SAP-001
- Where
- 16 sites in United States, Puerto Rico
- Volunteers
- 87 people
- Sponsor
- Shanton Pharma Pte. Ltd.
Retinitis Pigmentosa, Retinitis
Non-Interventional Long Term Follow-up Study of Participants Previously Enrolled in the RESTORE Study
This study will be conducted following Good Clinical Practice (GCP) and International Conference on Harmonization (ICH) guidelines.
- Conditions
- Retinitis Pigmentosa, Retinitis, Retinal Diseases, Eye Diseases
- Trial name
- REMAIN (NCT06162585)
- Testing
- Gene Therapy product-MCO-010
- Where
- 6 sites in United States, Puerto Rico
- Volunteers
- 18 people
- Sponsor
- Nanoscope Therapeutics Inc.
Photoaging, Weight Loss
Evaluation of the Effects of a Biostimulator and Dermal Fillers for Cheek Augmentation and Contour Deficiencies
Adult subjects with a history of or currently taking glucagon-like peptide-1 (GLP-1) receptor agonist medication and moderate-to-severe cheek wrinkles and midface contour deficiencies will be treated with Sculptra correction of…
- Conditions
- Photoaging, Weight Loss, Skin Laxity, Photodamaged Skin
- Trial name
- NCT06351358
- Testing
- Sculptra treatment, Restylane Treatment
- Where
- 2 sites in United States
- Volunteers
- 41 people, healthy volunteers welcome
- Sponsor
- Galderma R&D
Alpha-1 Antitrypsin Deficiency (AATD)
A Trial Evaluating the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Efficacy of CTX460 in Adults With Emphysema Associated With Severe Alpha-1 Antitrypsin Deficiency (AATD)
A Study of CTX460 in Adults with Emphysema Associated with Severe Alpha-1 Antitrypsin Deficiency (AATD).
- Trial name
- NCT07850076
- Testing
- CTX460
- Volunteers
- 68 people
- Sponsor
- CRISPR Therapeutics