Clinical trials: Genetic Conditions
- Condition Genetic Conditions
- Funder type Industry (pharma, biotech, devices)
- Age group Children (under 18)
Wound; Rupture, Surgery, Cesarean Section, Postpartum Hemorrhage
HEMOLEVEN® Expanded Access Program Prevention of Surgical/Postpartum Hemorrhage Severe Inherited Factor XI Deficiency
The objective of the Expanded Access Program is to provide HEMOLEVEN, a replacement coagulation factor XI, to patients with severe inherited factor XI deficiency where, in the opinion of the treating physician, the benefits of…
- Conditions
- Wound; Rupture, Surgery, Cesarean Section, Postpartum Hemorrhage, Surgery
- Trial name
- EAP (NCT01701947)
- Testing
- Hemoleven
- Where
- United States
- Sponsor
- Laboratoire français de Fractionnement et de Biotechnologies
Retinitis Pigmentosa, Usher Syndromes
Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa
This study is aimed to characterize Russian population of Retinitis Pigmentosa
- Trial name
- RU-RP (NCT03901391)
- Testing
- Whole Exome Sequencing
- Where
- 2 sites in Russia
- Volunteers
- 130 people
- Sponsor
- Sensor Technology for Deafblind
Cancer, Breakthrough Pain
Efficacy/Safety Study of ACTIQ® for Opioid-Tolerant Children and Adolescents With Breakthrough Pain (BTP)
The primary objective of the study is to evaluate the efficacy of ACTIQ treatment for the management of breakthrough pain (BTP) compared to placebo treatment in children with cancer and non-cancer pain who are receiving…
- Trial name
- NCT00236041
- Testing
- ACTIQ®
- Where
- 31 sites in United States, Puerto Rico
- Volunteers
- 38 people
- Sponsor
- Cephalon
Farber Disease, Farber's Disease
Farber Disease Natural History Study
The primary objective of this study is to establish the natural history of Farber disease (acid ceramidase deficiency) through the collection and analysis of retrospective and prospective data on patients diagnosed with Farber…
- Conditions
- Farber Disease, Farber's Disease, Farber Lipogranulomatosis, Acid Ceramidase Deficiency
- Trial name
- NCT03233841
- Where
- 15 sites in United States, Argentina and 7 more
- Volunteers
- 45 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
Congenital Adrenal Hyperplasia
Safety, Pharmacokinetics and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia
This is a Phase 1, multicenter, open-label, single-dose study to evaluate the safety and tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of NBI-77860 in subjects with congenital adrenal hyperplasia (CAH).
- Trial name
- NCT02349503
- Testing
- NBI-77860
- Where
- 2 sites in United States
- Sponsor
- Neurocrine Biosciences
Urea Cycle Disorders
To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs)
This was an open-label, long-term safety study of HPN-100 (RAVICTI; glycerol phenylbutyrate) in participants with a urea cycle disorder (UCD) who completed the safety extensions of HPN-100-005 (NCT00947544; HPN-100-005SE)…
- Trial name
- NCT01257737
- Testing
- HPN-100
- Where
- 16 sites in United States, Canada
- Volunteers
- 88 people
- Sponsor
- Amgen
Fragile-X Syndrome
EXPLAIN -FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes
This prospective observational study (registry) on Fragile X syndrome (FXS) is designed to evaluate characteristics, management and patient and caregiver-related outcomes the quality of life of Families and patients with FXS and…
- Trial name
- EXPLAIN (NCT01711606)
- Where
- Germany
- Volunteers
- 75 people
- Sponsor
- Novartis Pharmaceuticals
Rett Syndrome
A Novel, Regulated Gene Therapy (NGN-401) Study for Females With Rett Syndrome
This study will evaluate the efficacy and safety profiles of the investigational gene therapy, NGN-401, in females with typical Rett syndrome.
- Trial name
- NCT05898620
- Testing
- NGN-401
- Where
- 16 sites in United States, Australia and 1 more
- Volunteers
- 33 people
- Sponsor
- Neurogene Inc.
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
Generalized Lipodystrophy
A Study of the Safety of Mibavademab in Pediatric and Adult Participants Switching From Metreleptin to Mibavademab for the Treatment of Generalized Lipodystrophy (GLD)
This study is researching an experimental drug called mibavademab. The study is focused on participants with GLD who have been on metreleptin treatment for at least 6 months with no change in dose for the last 3 months.
- Trial name
- NCT06548100
- Testing
- mibavademab
- Where
- 2 sites in United States
- Volunteers
- 9 people
- Sponsor
- Regeneron Pharmaceuticals
Spinal Muscular Atrophy, SMA
A Study to Evaluate How Apitegromab Works in Subjects Who Are Less Than 2 Years Old and Have Spinal Muscular Atrophy
This double-blind, Phase 2, multiple-dose study will be conducted to evaluate the PK/PD, efficacy, safety, and tolerability of apitegromab in subjects <2 years old with 5q autosomal recessive SMA who have delayed motor milestones…
- Conditions
- Spinal Muscular Atrophy, SMA, Spinal Muscular Atrophy Type 2, Spinal Muscular Atrophy Type 3
- Trial name
- OPAL (NCT07047144)
- Testing
- Apitegromab, Nusinersen, Risdiplam
- Where
- 23 sites in United States, Belgium and 5 more
- Volunteers
- 52 people
- Sponsor
- Scholar Rock, Inc.
SCAR
An Exploratory Study of Genetic and Clinical Factors for Serious Skin Reactions Among Users of Eslicarbazepine Acetate
The reason for this study is to understand if people with certain genes are predisposed to develop severe skin reactions after they are administered Eslicarbazepine Acetate.
- Trial name
- NCT02520557
- Testing
- Blood or Saliva
- Where
- United States
- Volunteers
- 121 people
- Sponsor
- Sumitomo Pharma America, Inc.
Haemophilia A
Turoctocog Alfa in Haemophilic Italian Patients: Protection and Engagement in Recreational Activities
This is a study on Italian patients with haemophilia A in prophylaxis treatment with Turoctocog alfa under routine clinical conditions.
- Trial name
- THIRd (NCT04584892)
- Testing
- Turoctocog alfa
- Where
- 10 sites in Italy
- Volunteers
- 18 people
- Sponsor
- Novo Nordisk A/S
Mucopolysaccharidosis Type II (MPS II)
RGX-121 Gene Therapy in Children 5 Years of Age and Over With MPS II (Hunter Syndrome)
RGX-121 is a gene therapy which is designed to deliver a functional copy of the iduronate-2-sulfatase (IDS) gene to the central nervous system.
- Trial name
- NCT04571970
- Testing
- RGX-121
- Where
- 2 sites in United States, Canada
- Volunteers
- 6 people
- Sponsor
- REGENXBIO Inc.
Stargardt Disease, Stargardt Macular Dystrophy
A Study About the Safety of a Single ASP2020 Eye Injection and if it Helps People With Vision Loss From Stargardt-type Eye Conditions
Macular dystrophies are a group of inherited eye conditions that affect the macula. The macula is in the center of the retina, the light sensitive part at the back of the eye.
- Conditions
- Stargardt Disease, Stargardt Macular Dystrophy, Stargardt-like Macular Dystrophy
- Trial name
- DEVOTE (NCT07734064)
- Testing
- ASP2020
- Where
- 4 sites in United States
- Volunteers
- 30 people
- Sponsor
- Astellas Institute for Regenerative Medicine
Leber Congenital Amaurosis 10, Blindness
Extension Study to Study PQ-110-001 (NCT03140969)
Subjects completing participation in study PQ-110-001 (EudraCT 2017-000813-22 / NCT03140969) will be given the opportunity to enroll into the extension study for continued dosing if available data support current and/or future…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders
- Trial name
- INSIGHT (NCT03913130)
- Testing
- QR-110
- Where
- 3 sites in United States, Belgium
- Volunteers
- 9 people
- Sponsor
- Laboratoires Thea
Prader-Willi Syndrome
Study of Tesomet With Open-label Extension in Subjects With Prader-Willi Syndrome
This study will evaluate the safety and efficacy of Tesomet (tesofensine + metoprolol) in subjects with PWS.
- Trial name
- PWS (NCT05198362)
- Testing
- Tesomet
- Where
- United States
- Sponsor
- Saniona
Infantile Colics, Constipation
Randomized, Blinded, Placebo-Controlled Evaluation of BioAmicus Complete
This is a randomized, single-blind, placebo-controlled study to evaluate the efficacy of the dietary supplement BioAmicus Complete (oral drops; a mixture of 10 strains of lacto- and bifidobacteria) in managing functional…
- Conditions
- Infantile Colics, Constipation, Infantile Diarrhea, Atopic Dermatitis
- Trial name
- NCT07444008
- Testing
- BioAmicus Complete
- Where
- Russia
- Volunteers
- 140 people
- Sponsor
- NovoNatum Ltd
Chronic Myelogenous Leukemia (CML), Metastatic Gastrointestinal Stromal Tumors (GIST)
Study to Allow Access to Nilotinib for Patients Who Are on Nilotinib Treatment in a Novartis-sponsored Study
The purpose of this study was to allow continued use of nilotinib in patients who were on nilotinib treatment in a Novartis-sponsored, Oncology Clinical Development \& Medical Affairs (CD\&MA) study and were benefiting from the…
- Conditions
- Chronic Myelogenous Leukemia (CML), Metastatic Gastrointestinal Stromal Tumors (GIST), Acute Lymphoblastic Leukemia (ALL), Receptor Tyrosine Kinase (KIT) Mutated Melanoma
- Trial name
- NCT01735955
- Testing
- Nilotinib
- Where
- 33 sites in United States, Austria and 14 more
- Volunteers
- 57 people
- Sponsor
- Novartis Pharmaceuticals
Interstitial Lung Disease, COPD
Global Utilization And Registry Database for Improved preservAtion of doNor LUNGs
The objective of this registry is to collect and evaluate various clinical effectiveness parameters in patients with transplanted donor lung that were preserved and transported within the LUNGguard system, as well as…
- Conditions
- Interstitial Lung Disease, COPD, Cystic Fibrosis, Pulmonary Fibrosis
- Trial name
- GUARDIANLUNG (NCT04930289)
- Testing
- LungGuard, BAROGuard
- Where
- 15 sites in United States, Belgium
- Volunteers
- 3,500 people
- Sponsor
- Paragonix Technologies