SLC13A5 Deficiency Natural History Study - United States Only
Conditions: Citrate Transporter Deficiency; Epilepsy; Rare Diseases; Movement Disorders; Genetic Disorder; SLC13A5 Deficiency; EIEE25; Kohlschutter-Tonz Syndrome (Non-ROGDI); Citrate Transporter Disorder; DEE25 Sponsors: TESS Research Foundation; Stanford University; Brown University; University of Texas Southwestern Medical Center Recruiting (Source: ClinicalTrials.gov)
Source: ClinicalTrials.gov - November 22, 2023 Category: Research Source Type: clinical trials
Canadian Continuation of Roll-over Study in Patients With Endogenous Cushing's Syndrome
Conditions: Endogenous Cushing Syndrome Interventions: Drug: Intervention/Treatment Sponsors: Centre hospitalier de l ' Universit é de Montréal (CHUM); Recordati Rare Diseases Active, not recruiting (Source: ClinicalTrials.gov)
Source: ClinicalTrials.gov - November 14, 2023 Category: Research Source Type: clinical trials
Investigational Drug Restores Parathyroid Function in Rare Disease
Friday, October 13, 2023 -- An investigational drug, encaleret, restored calcium levels in people with autosomal dominant hypocalcemia type 1 (ADH1), a rare genetic disorder marked by an imbalance of calcium in the blood and urine, as well as... (Source: Drugs.com - Clinical Trials)
Source: Drugs.com - Clinical Trials - October 13, 2023 Category: Pharmaceuticals Source Type: clinical trials
Structural Chromosome Rearrangements and Brain Disorders
Conditions: Rare Diseases; Genetic Disease; Chromosome Abnormality Sponsors: Karolinska Institutet; Karolinska University Hospital Enrolling by invitation (Source: ClinicalTrials.gov)
Source: ClinicalTrials.gov - October 9, 2023 Category: Research Source Type: clinical trials
SciSparc Initiated Its Clinical Trial with SCI-210 in Pediatrics with Autism Spectrum Disorder
TEL AVIV, Israel, Sept. 29, 2023. SciSparc Ltd. ( " Company " or " SciSparc " ), a specialty clinical-stage pharmaceutical company focusing on the development of therapies to treat disorders and rare disease of the central nervous system, today announced... (Source: Drugs.com - Clinical Trials)
Source: Drugs.com - Clinical Trials - September 29, 2023 Category: Pharmaceuticals Source Type: clinical trials
SciSparc Announces Initiation of Randomized Phase IIb Clinical Trial of its Proprietary SCI-110 for Tourette Syndrome
TEL AVIV, Israel, Sept. 08, 2023. SciSparc Ltd. ( " Company " or " SciSparc " ), a specialty clinical-stage pharmaceutical company focusing on the development of therapies to treat disorders and rare diseases of the central nervous system, today... (Source: Drugs.com - Clinical Trials)
Source: Drugs.com - Clinical Trials - September 9, 2023 Category: Pharmaceuticals Source Type: clinical trials
Developing a Pipeline to Employ RNA-Seq as a Complementary Diagnostic Tool in Rare Diseases
Conditions: Atypical Hemolytic Uremic Syndrome; Membranoproliferative Glomerulonephritis; Autosomal Dominant Polycystic Kidney; Healthy Intervention: Procedure: Skin biopsy Sponsor: Mario Negri Institute for Pharmacological Research Not yet recruiting (Source: ClinicalTrials.gov)
Source: ClinicalTrials.gov - August 18, 2023 Category: Research Source Type: clinical trials
Genomic Uniformed-Screening Against Rare Disease In All Newborns
Condition: Early Onset Genetic Conditions With Near Complete Penetrance Intervention: Other: Genome sequencing-based newborn screening Sponsors: Columbia University; Illumina, Inc.; GeneDx; New York State Department of Health Recruiting (Source: ClinicalTrials.gov)
Source: ClinicalTrials.gov - August 14, 2023 Category: Research Source Type: clinical trials
