Clinical trials: Chronic Neurological Deficiency
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Hypophosphatemia, Hypophosphatemic Rickets
Open Label Trial Assessing Safety and Efficacy of Burosumab (KRN23), in a Patient With ENS and Hypophosphatemic Rickets
A 52 week, open label trial to assess the safety and efficacy of KRN23, an investigational antibody to FGF23, in a single pediatric patient with Epidermal Nevus Syndrome(ENS) and associated hypophosphatemic rickets A 26 weeks…
- Conditions
- Hypophosphatemia, Hypophosphatemic Rickets, Pain, Chronic
- Trial name
- NCT03581591
- Testing
- Burosumab
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Redwood Dermatology Sciences
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes
Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT
The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant…
- Conditions
- Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias
- Trial name
- HSCT+RIC (NCT01962415)
- Testing
- Hydroxyurea, Alemtuzumab, Fludarabine
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Paul Szabolcs
Scoliosis, Spinal Deformity
Bilateral Bi-level Erector Spine Plane Block as a Component of General Anesthesia in Surgical Correction of Spinal Deformations
Improving the anesthesiology management for surgical correction of spinal deformations with introducing the diagnostic methods and treatment strategy of acute pain, preventing the evolution of chronic pain.
- Conditions
- Scoliosis, Spinal Deformity, Acute Pain, Chronic Pain
- Trial name
- BBESPB (NCT04697498)
- Testing
- Bilateral bi-level Erector spine plane block, General anaesthesia
- Where
- Ukraine
- Volunteers
- 150 people
- Sponsor
- Lviv National Medical University
Bone Marrow Failure Syndrome, Thalassemia
Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
In this study, the investigators test 2 dose levels of thiotepa (5 mg/kg and 10 mg/kg) added to the backbone of targeted reduced dose IV busulfan, fludarabine and rabbit anti-thymocyte globulin (rATG) to determine the minimum…
- Conditions
- Bone Marrow Failure Syndrome, Thalassemia, Sickle Cell Disease, Diamond Blackfan Anemia
- Trial name
- NCT03513328
- Testing
- Thiotepa--single daily dose, Thiotepa--escalated dose
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of Florida
Mitochondrial Disorders, Mitochondrial Genetic Disorders
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.
- Conditions
- Mitochondrial Disorders, Mitochondrial Genetic Disorders, Mitochondrial Diseases, Disorder of Mitochondrial Respiratory Chain Complexes
- Trial name
- NAMDC (NCT01694940)
- Where
- 17 sites in United States, Canada
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes
Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC
This is a data collection study that will examine the general diagnostic and treatment data associated with the reduced-intensity chemotherapy-based regimen paired with simple alemtuzumab dosing strata designed to prevented graft…
- Conditions
- Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias
- Trial name
- PRO-RIC (NCT04528355)
- Testing
- data collection
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Paul Szabolcs
Cerebral Palsy, Genetic Disease
Genetic Etiology in Patients With Cerebral Palsy
Cerebral palsy (CP) is a permanent disorder of movement or posture due to non-progressive impairments of the developing brain. Current estimates indicate that as many as 30% of CP cases may be genetic in nature.
- Conditions
- Cerebral Palsy, Genetic Disease, Developmental Delay, Metabolism, Inborn Errors
- Trial name
- GenCP (NCT05123768)
- Testing
- NGS
- Where
- Slovenia
- Volunteers
- 150 people
- Sponsor
- University Medical Centre Ljubljana
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Organic, Including Symptomatic, Mental Disorders, Substance Use
Exploring the Comorbidity Between Mental Disorders and General Medical Conditions
Mental disorders have been shown to be associated with a number of general medical conditions (also referred to as somatic or physical conditions).
- Conditions
- Organic, Including Symptomatic, Mental Disorders, Substance Use, Schizophrenia, Mood [Affective] Disorders
- Trial name
- COMO-GMC (NCT03847753)
- Testing
- Organic Disorders, Substance Use Disorders, Schizophrenia Disorders
- Volunteers
- 5,940,299 people
- Sponsor
- University of Aarhus
Chronic Pain, Chronic Pain Syndrome
Outcomes Mandate National Integration With Cannabis as Medicine
This will be a multistate, multicenter clinical study to determine the efficacy and safety of medical cannabis for a wide variety of chronic medical conditions.
- Conditions
- Chronic Pain, Chronic Pain Syndrome, Chronic Pain Due to Injury, Chronic Pain Due to Trauma
- Trial name
- OMNI-Can (NCT03944447)
- Testing
- Cannabis, Medical, RYAH-Medtech Inhaler
- Where
- 17 sites in United States
- Volunteers
- 200,000 people, healthy volunteers welcome
- Sponsor
- OMNI Medical Services, LLC
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Mitochondrial Diseases, Kearns-Sayre Syndrome
Global Registry and Natural History Study for Mitochondrial Disorders
The main goal of the project is provision of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome…
- Conditions
- Mitochondrial Diseases, Kearns-Sayre Syndrome, MIDD, SANDO
- Trial name
- GENOMIT (NCT05554835)
- Where
- 34 sites in Austria, Germany and 1 more
- Volunteers
- 6,000 people
- Sponsor
- LMU Klinikum
Systemic Juvenile Idiopathic Arthritis, Hereditary Periodic Fevers
A Study of Canakinumab in Patients With Systemic Juvenile Idiopathic Arthritis or Hereditary Periodic Fevers Who Participated in the CACZ885G2301E1, CACZ885G2306 or CACZ885N2301 Studies
The objective of this extension protocol is to collect safety data (serious and non-serious adverse events) and to provide continuous canakinumab to patients in France who completed study CACZ885G2301E1(NCT00891046), CACZ885G2306…
- Trial name
- NCT02334748
- Testing
- canakinumab
- Where
- 3 sites in France
- Volunteers
- 31 people
- Sponsor
- Novartis Pharmaceuticals
End Stage Renal Disease, Restless Legs Syndrome
Biotin Deficiency and Restless Legs Syndrome
Restless Leg Syndrome (RLS) is a common neuropathic disorder in patients with end stage renal disease (ESRD). Study Design: Because micronutrient depletion has been associated with RLS in ESRD and because the vitamin biotin is…
- Trial name
- NCT02011191
- Testing
- Biotin Supplementation, Sugar Pill
- Volunteers
- 49 people
- Sponsor
- Heidi Moretti, MS, RD