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Refsum Disease clinical trials

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NCT ID: NCT05902351 Recruiting - Clinical trials for Charcot-Marie-Tooth Disease

Natural History Study for Charcot Marie Tooth Disease

Start date: November 1, 2013
Phase:
Study type: Observational

The goal of this Natural History Study for Charcot-Marie-Tooth is to acquire, record, and analyze patient-reported data and associated genetic reports, Electronic Health Records (EHRs) and clinical notes to identify the burden, diagnostic journey, and prevalence of disease that will aid scientists in their work toward finding a cure. Participants will be asked to complete a Natural History Survey.

NCT ID: NCT03810508 Terminated - Clinical trials for Charcot-Marie-Tooth Disease

A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)

CMT4J
Start date: July 18, 2019
Phase:
Study type: Observational

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 compromise and premature death with no available treatment. The purpose of this study is to investigate the clinical characteristics and natural clinical progression of symptoms in individuals with CMT4J. This natural history study is important to better understand disease course to be able to determine clinically meaningful outcome measures for use in future clinical trials.

NCT ID: NCT03047369 Recruiting - Clinical trials for Adrenoleukodystrophy

The Myelin Disorders Biorepository Project

MDBP
Start date: December 8, 2016
Phase:
Study type: Observational [Patient Registry]

The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago. Researchers working in the biorepository hope to use these materials to uncover new genetic etiologies for various leukodystrophies, develop biomarkers for use in future clinical trials, and better understand the natural history of these disorders. The knowledge gained from these efforts may help improve the diagnostic tools and treatment options available to patients in the future.

NCT ID: NCT02699190 Active, not recruiting - Clinical trials for Adrenoleukodystrophy

LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies

Start date: January 6, 2017
Phase:
Study type: Observational

Leukodystrophies, and other heritable disorders of the white matter of the brain, were previously resistant to genetic characterization, largely due to the extreme genetic heterogeneity of molecular causes. While recent work has demonstrated that whole genome sequencing (WGS), has the potential to dramatically increase diagnostic efficiency, significant questions remain around the impact on downstream clinical management approaches versus standard diagnostic approaches.

NCT ID: NCT02435940 Recruiting - Clinical trials for Retinitis Pigmentosa

Inherited Retinal Degenerative Disease Registry

MRTR
Start date: June 2014
Phase:
Study type: Observational [Patient Registry]

The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals who register are guided to create a profile that captures their perspective on their retinal disease and its progress; family history; genetic testing results; preventive measures; general health and interest in participation in research studies. The participants may also choose to ask their clinician to add clinical measurements and results at each clinical visit. Participants are urged to update the information regularly to create longitudinal records of their disease, from their own perspective, and their clinical progress. The overall goals of the Registry are: to better understand the diversity within the inherited retinal degenerative diseases; to understand the prevalence of the different diseases and gene variants; to assist in the establishment of genotype-phenotype relationships; to help understand the natural history of the diseases; to help accelerate research and development of clinical trials for treatments; and to provide a tool to investigators that can assist with recruitment for research studies and clinical trials.

NCT ID: NCT02171104 Recruiting - Hunter Syndrome Clinical Trials

MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis

Start date: July 10, 2014
Phase: Phase 2
Study type: Interventional

This single-institution, phase II study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) using busulfan- and fludarabine-based conditioning regimens with busulfan therapeutic drug monitoring (TDM) for patients with various inherited metabolic disorders (IMD) and severe osteopetrosis (OP).

NCT ID: NCT01793168 Recruiting - Clinical trials for Retinitis Pigmentosa

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

CoRDS
Start date: July 2010
Phase:
Study type: Observational [Patient Registry]

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

NCT ID: NCT01668186 Recruiting - Clinical trials for RCDP - Rhizomelic Chondrodysplasia Punctata

Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)

Start date: January 2012
Phase:
Study type: Observational

The Peroxisome Biogenesis Disorders (PBD) are a group of inherited disorders due to defects in peroxisome assembly causing complex developmental and metabolic sequelae. In spite of advancements in peroxisome biology, the pathophysiology remains unknown, the spectrum of phenotypes poorly characterized and the natural history not yet systematically reported. Our aims are to further define this population clinically, biochemically and genetically. The investigators will prospectively follow patients from Canada, the US and internationally, and collect data from medical evaluations, blood, urine and imaging studies that would be performed on a clinical care basis. For patients who are unable to attend our clinic, we will collect all medical records and images since birth as well as subsequent records/images for the next 5 years or until the end of the study. Clinical data from medical records will be banked in our Peroxisomal Disorder Research Databank and Biobank. The investigators will use this information to identify standards of care and improve management.

NCT ID: NCT00007020 Completed - Cholestasis Clinical Trials

Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid

Start date: January 1992
Phase: Phase 3
Study type: Interventional

OBJECTIVES: I. To Evaluate the therapeutic efficacy of cholic acid during provision of compassionate treatment to patients with identified inborn errors of bile acid synthesis and metabolism II. To assess the safety and tolerability of cholic acid

NCT ID: NCT00004442 Terminated - Clinical trials for Adrenoleukodystrophy

Study of Bile Acids in Patients With Peroxisomal Disorders

Start date: n/a
Phase: N/A
Study type: Interventional

OBJECTIVES: I. Determine the effectiveness of oral bile acid therapy with cholic acid, chenodeoxycholic acid, and ursodeoxycholic acid in patients with peroxisomal disorders involving impaired primary bile acid synthesis. II. Determine whether suppression of synthesis of atypical bile acids and enrichment of bile acid pool with this regimen is effective in treating this patient population and improving quality of life.