Clinical trials: Malformations
Epilepsy, Bipolar Disorder
Lamotrigine Pregnancy Registry (LAM05)
Antiepileptic drugs (AEDs) are not indicated for use in pregnancy. However, women with epilepsy, and other approved indications including bipolar disorder, may require or be unintentionally exposed to AEDs during pregnancy.
- Trial name
- NCT01064297
- Testing
- Lamotrigine monotherapy, Lamotrigine polytherapy including valproate, Lamotrigine polytherapy without valproate
- Volunteers
- 3,416 people
- Sponsor
- GlaxoSmithKline
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
Tuberous Sclerosis Complex
Clinical Study of NPC-12Y Gel in Patients With Skin Lesions Associated With TSC
The purpose of this study is to investigate the efficacy and safety of NPC-12Y gel compared with placebo for skin lesions associated with tuberous sclerosis.
- Trial name
- NCT05495425
- Testing
- NPC-12Y gel
- Where
- 5 sites in Japan
- Volunteers
- 43 people
- Sponsor
- Nobelpharma
Hypothalamic Obesity, Multiple Pituitary Hormone Deficiency Genetic Form
A Trial of Setmelanotide in Patients With Congenital Hypothalamic Obesity (Sub-study of NCT05774756)
This is a sub-study of Study RM-493-040 (NCT05774756). The goal of this sub-study is to learn how well Setmelanotide works to improve weight reduction, hunger, and quality of life in patients 4 years of age and older with…
- Conditions
- Hypothalamic Obesity, Multiple Pituitary Hormone Deficiency Genetic Form, Septo-Optic Dysplasia, Optic Nerve Hypoplasia
- Trial name
- NCT06760546
- Testing
- Setmelanotide
- Where
- 11 sites in United States, United Kingdom
- Volunteers
- 39 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Tuberous Sclerosis Complex, Seizures
An Open-label Extension Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6)
This trial consists of 2 parts: a double-blinded phase and an open-label extension phase. The open-label extension phase only will be described in this record. All participants will receive the same dose of GWP42003-P.
- Trial name
- NCT02544750
- Testing
- GWP42003-P
- Where
- United States
- Volunteers
- 199 people
- Sponsor
- Jazz Pharmaceuticals
Charcot-Marie-Tooth Disease, Hereditary Motor and Sensory Neuropathy IV
A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)
Charcot-Marie-Tooth 4J (CMT4J) is a rare inherited peripheral neuropathy often characterized by rapidly progressive, asymmetrical upper and lower extremity weakness, muscle atrophy leading to loss of ambulation, respiratory…
- Trial name
- CMT4J (NCT03810508)
- Where
- 2 sites in United States
- Volunteers
- 21 people
- Sponsor
- Neurogene Inc.
PIK3CA-Related Overgrowth Spectrum (PROS)
Retrospective Chart Review Study of Patients With PIK3CA-Related Overgrowth Spectrum Who Have Received Alpelisib
The study was a site-based retrospective non-interventional medical chart review of pediatric and adult male and female patients with PIK3CA-Related Overgrowth Spectrum (PROS) who initiated alpelisib at least 24 weeks before the…
- Trial name
- EPIK-P1 (NCT04285723)
- Testing
- alpelisib
- Where
- 7 sites in United States, Australia and 3 more
- Volunteers
- 57 people
- Sponsor
- Novartis Pharmaceuticals
Asthma
WEUSRTP4850: Phase II: ICS/LABA Use in Pregnancy and Outcomes
Asthma is reported to affect between 3-14% of pregnancies making asthma medicines one of the most commonly used classes of medicines during pregnancy.
- Trial name
- NCT01681979
- Testing
- Fluticasone propionate (with and without concurrent salmeterol)
- Volunteers
- 1 people
- Sponsor
- GlaxoSmithKline
Microcystic Lymphatic Malformation
SELVA: A Phase 3 Study Evaluating QTORIN 3.9% Rapamycin Anhydrous Gel in the Treatment of Microcystic Lymphatic Malformations
SELVA: A Multicenter, Phase 3 Baseline-Controlled Study Evaluating the Safety and Efficacy of QTORIN 3.9% Rapamycin Anhydrous Gel in the Treatment of Microcystic Lymphatic Malformations The main purpose of this study is to assess…
- Trial name
- SELVA (NCT06239480)
- Testing
- QTORIN 3.9% Rapamycin Anhydrous Gel
- Where
- 15 sites in United States
- Volunteers
- 51 people
- Sponsor
- Palvella Therapeutics, Inc.
Lennox Gastaut Syndrome, Dravet Syndrome
Assessment of Potential for Chronic Liver Injury in Participants Treated With Epidiolex (Cannabidiol) Oral Solution
This study will monitor for potential chronic liver injury and liver fibrosis, in participants treated with cannabidiol oral solution.
- Conditions
- Lennox Gastaut Syndrome, Dravet Syndrome, Tuberous Sclerosis Complex
- Trial name
- NCT05044819
- Testing
- Cannabidiol
- Where
- 26 sites in United States
- Volunteers
- 154 people
- Sponsor
- Jazz Pharmaceuticals
Spina Bifida
Establishing the Preliminary Utility of a Novel Pediatric Manual Mobile Standing Wheelchair
To establish the preliminary utility of a novel pediatric manual mobile standing wheelchair (PedMMSWC).
- Trial name
- NCT07290556
- Testing
- PedMMSWC Wheelchair User Testing, PedMMSWC Simulated Home, School, Community Environment
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Optimal Mobility, Inc
Intracranial Aneurysm, Brain Arterial Disease
Safety, Performance and Usability of BALT Medical Devices: The EVIDENCE Post Marketing Clinical Follow-up Platform
BALT has designed an electronic platform to continue collecting clinical data as part of the post-marketing clinical follow-up of its devices.
- Conditions
- Intracranial Aneurysm, Brain Arterial Disease, Acute Ischemic Stroke, Peripheral Vascular Diseases
- Trial name
- EVIDENCE (NCT04927156)
- Testing
- BALT medical devices
- Where
- 12 sites in France, Germany and 1 more
- Volunteers
- 10,000 people
- Sponsor
- Balt Extrusion
Intracranial Aneurysm
Assessment of the Embolization of Neurovascular Lesions Using the Penumbra Smart Coil
The primary objective of this study is to gather post market data on the Penumbra SMART COIL® System (Smart System) in the treatment of intracranial aneurysms and other malformations.
- Trial name
- SMART (NCT02729740)
- Testing
- Penumbra Smart Coil, Penumbra Coil 400TM (PC400), Penumbra Occlusion DeviceTM(POD)
- Where
- 72 sites in United States, Canada
- Volunteers
- 995 people
- Sponsor
- Penumbra Inc.
HSP, Hereditary Spastic Paraplegia
Safety and Efficacy of AAV9/AP4B1 (BFB-101) For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47)
Safety and Efficacy of AAV9/AP4B1 For Patients with AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47): A Phase 1/2 Single-Center, Open-Label Study of Stereotactic Intra-cisterna Magna Administration.
- Conditions
- HSP, Hereditary Spastic Paraplegia, Hereditary Spastic Paraparesis, Hereditary Spastic Paraplegia Type 50
- Trial name
- NCT06948019
- Testing
- BFB-101 (AAV9-CBh-AP4B1)
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- BlackfinBio Ltd
Tuberous Sclerosis Complex
Adjunctive GNX Treatment Compared With Placebo in Children and Adults With TSC-related Epilepsy
This is a Phase 3, global, double-blind, randomized, placebo-controlled study of adjunctive GNX treatment in children and adults with TSC-related epilepsy.
- Trial name
- NCT05323734
- Testing
- Ganaxolone
- Where
- 63 sites in United States, Australia and 8 more
- Volunteers
- 129 people
- Sponsor
- Marinus Pharmaceuticals
Malformations
Varenicline Pregnancy Cohort Study
A prospective population-based cohort study to examine whether varenicline use during pregnancy is associated with an increased risk of major congenital malformations in infants above that associated with smoking during pregnancy.
- Trial name
- NCT01290445
- Testing
- varenicline, cigarette smoke from maternal smoking, Non-Exposure
- Volunteers
- 885,185 people
- Sponsor
- Pfizer
Prostatic Neoplasms
Prevalence of HRR-related Genes Mutations and Prognosis in Metastatic Castration Resistant Prostate Cancer (mCRPC) Patients in Real World Setting
The purpose of this study is to investigate the prevalence of tissue homologous recombination repair (HRR)-related gene mutations (positive/negative/Variant of uncertain significance (VUS)), clinical outcome such as…
- Trial name
- ZENSHIN (NCT04425200)
- Where
- 26 sites in Japan
- Volunteers
- 205 people
- Sponsor
- AstraZeneca
Sleep Problems
Assessment of the Pharmacokinetics of Circadin® in Children With Neurodevelopmental Disorders and Sleep Disturbances
There is increasing evidence that chronic sleep disorders in children with autism spectrum disorder (ASD), Angelman Syndrome (AS) and Smith-Magenis syndrome (SMS) are associated with disturbed melatonin secretion and melatonin…
- Trial name
- NCT01903681
- Testing
- Circadin 2 mg, Circadin 10 mg
- Where
- Netherlands
- Volunteers
- 16 people
- Sponsor
- Neurim Pharmaceuticals Ltd.
Peripheral Arterial Disease, Arterio-venous Fistula
Serranator® Alto Post Market Clinical Follow Up (PMCF) Study
The objective of this registry is to collect observational data under local standard of care and evaluate safety and performance of the Serranator® Alto in treatment of peripheral artery disease (PAD), or dysfunctional native or…
- Conditions
- Peripheral Arterial Disease, Arterio-venous Fistula, Arteriovenous Graft
- Trial name
- NCT03538392
- Testing
- Serranator® Alto
- Sponsor
- Cagent Vascular LLC
Neurogenic Detrusor Overactivity
Open-label, Long-term Safety, Efficacy, and Pharmacokinetics Study of Vibegron in Pediatric Subjects 2 Years to < 18 Years of Age With NDO and on CIC
The purpose of this study is to evaluate the safety, efficacy, and PK of Vibegron in pediatric participants with NDO who are regularly using CIC
- Trial name
- KANGUROO (NCT05491525)
- Testing
- Vibegron
- Where
- 38 sites in United States, Belgium and 14 more
- Volunteers
- 71 people
- Sponsor
- Urovant Sciences GmbH